UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] RSS 2.0 [feed] RSS 1.0 [feed] Atom
Group by: Author | Type
Jump to: A | B | C | D | F | G | H | K | L | M | N | O | P | R | S | T | U | V | W | Y
Number of items: 216.

A

Aguirregomozcorta, M and Schwingenschuh, P and Katschnig, P and Paisan-Ruiz, C and Wood, N and Bhatia, K (2009) Familial adult-onset tremulous segmental dystonia associated with epilepsy, a new phenotype? In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 169 - 169). WILEY-BLACKWELL PUBLISHING, INC

Ahmed, S and King, C and Dorward, N and Warner, T (2009) Cerebral abscess as a complication of a halo fixation device. BMJ Case Rep , 2009 10.1136/bcr.06.2009.2024.
An open access publication

Al-Chalabi, A and Dürr, A and Wood, NW and Parkinson, MH and Camuzat, A and Hulot, JS and Morrison, KE and Renton, A and Sussmuth, SD and Landwehrmeyer, BG and Ludolph, A and Agid, Y and Brice, A and Leigh, PN and Bensimon, G and NNIPPS Genetic Study Group, (2009) Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One , 4 (9) , Article e7114 . 10.1371/journal.pone.0007114.
An open access publication. A version is also available from UCL Discovery.
file

Alafuzoff, I and Al-Sarraj, S and Arzberger, T and Bodi, I and Bogdanovic, N and Budka, H and Bugiani, O and Boluda, S and Duyckaerts, C and Ferrer, I and Gelpi, E and Gentleman, S and Giaccone, G and Graeber, MB and Holton, JL and Hortobagyi, T and Hoftberger, R and Ince, P and Kamphorst, W and Ironside, JW and Kavantzas, N and King, A and Korkolopoulou, P and Kovacs, GG and Larionov, SS and Meyronet, D and Monoranu, C and Nilsson, T and Parchi, P and Parkkinen, L and Patsouris, E and Pikkarainen, M and Roggendorf, W and Seilhean, D and Schulz-Schaeffer, W and Revesz, T and Rozemuller, A and Stadelmann-Nessler, C and Streichenberger, N and Tagliavini, F and Thal, DR and Wharton, SB and Kretzschmar, H (2009) Reproducibility in the assessment of Alzheimer's disease and Lewy body disease-related pathologies: a study by Brain Net Europe. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 12 - 13). BLACKWELL PUBLISHING

Alafuzoff, I and Thal, DR and Arzberger, T and Bogdanovic, N and Al-Sarraj, S and Bodi, I and Boluda, S and Bugiani, O and Duyckaerts, C and Gelpi, E and Gentleman, S and Giaccone, G and Graeber, M and Hortobagyi, T and Hoftberger, R and Ince, P and Ironside, JW and Kavantzas, N and King, A and Korkolopoulou, P and Kovacs, GG and Meyronet, D and Monoranu, C and Nilsson, T and Parchi, P and Patsouris, E and Pikkarainen, M and Revesz, T and Rozemuller, A and Seilhean, D and Schulz-Schaeffer, W and Streichenberger, N and Wharton, SB and Kretzschmar, H (2009) Assessment of beta-amyloid deposits in human brain: a study of the BrainNet Europe Consortium. ACTA NEUROPATHOL , 117 (3) 309 - 320. 10.1007/s00401-009-0485-4.

Andreou, A. (2009) Involvement of kainate glutamate receptors in the modulation of neuronal transmission in brain areas involved in migraine pathophysiology. Doctoral thesis, UCL (University College London).
An open access version is available from UCL Discovery
file

B

Benevieste, O and Hilton-Jones, D and Hanna, MG and Group, IBMS (2009) First international 'Institute of Myology' workshop on Inclusion Body Myositis.

Bensimon, G and Ludolph, A and Agid, Y and Vidailhet, M and Payan, C and Leigh, PN and Grp, NNIPPSS (2009) Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: The NNIPPS Study. BRAIN , 132 156 - 171. 10.1093/brain/awn291.

Bhidayasiri, R and Ling, H (2009) Treatment of Parkinson's disease in Thailand: review of the literature and practical recommendations. J Med Assoc Thai , 92 (1) 142 - 154.

Biglan, KM and Ross, CA and Langbehn, DR and Aylward, EH and Stout, JC and Queller, S and Carlozzi, NE and Duff, K and Beglinger, LJ and Paulsen, JS and Group, HS (2009) Motor Abnormalities in Premanifest Persons with Huntington's Disease: The PREDICT-HD Study. MOVEMENT DISORDERS , 24 (12) 1763 - 1772. 10.1002/mds.22601.

Blackinton, J and Kumaran, R and van der Brug, MP and Ahmad, R and Olson, L and Galter, D and Lees, A and Bandopadhyay, R and Cookson, MR (2009) Post-transcriptional regulation of mRNA associated with DJ-1 in sporadic Parkinson disease. NEUROSCI LETT , 452 (1) 8 - 11. 10.1016/j.neulet.2008.12.053.

Blom, ES and Giedraitis, V and Arepalli, S and Hamshere, ML and Adighibe, O and Goate, A and Williams, J and Lannfelt, L and Hardy, J and Wavrant-De Vrieze, F and Glaser, A (2009) Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. BMC MEDICAL GENETICS , 10 , Article ARTN 122. 10.1186/1471-2350-10-122.
An open access publication

Bras, J and Paisan-Ruiz, C and Guerreiro, R and Ribeiro, MH and Morgadinho, A and Januario, C and Sidransky, E and Oliveira, C and Singleton, A (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. NEUROBIOL AGING , 30 (9) 1515 - 1517. 10.1016/j.neurobiolaging.2007.11.016.

Bras, J and Simón-Sánchez, J and Federoff, M and Morgadinho, A and Januario, C and Ribeiro, M and Cunha, L and Oliveira, C and Singleton, AB (2009) Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet , 18 (2) 341 - 346. 10.1093/hmg/ddn340.

Bras, JM and Singleton, A (2009) Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta , 1792 (7) 597 - 603. 10.1016/j.bbadis.2008.11.008.

Brooks, J and Ding, J and Simon-Sanchez, J and Paisan-Ruiz, C and Singleton, AB and Scholz, SW (2009) Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J MED GENET , 46 (6) 375 - 381. 10.1136/jmg.2008.063917.

Bunn, LM and Giunti, P and Marsden, JF and Day, BL (2009) Vestibular processing for balance control in spino-cerebellar ataxia type 6 (SCA6). In: MOVEMENT DISORDERS. (pp. S9 - S9). WILEY-LISS

Bunn, LM and Marsden, JF and Giunti, P and Day, BL (2009) The pattern of instability and its dependence on posture in spino-cerebellar ataxia type 6 (SCA6). In: MOVEMENT DISORDERS. (pp. S8 - S9). WILEY-LISS

C

Camargos, ST and Dornas, LO and Momeni, P and Lees, A and Hardy, J and Singleton, A and Cardoso, F (2009) Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic: Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations. MOVEMENT DISORD , 24 (5) 662 - 666. 10.1002/mds.22365.

Campanella, M and Seraphim, A and Abeti, R and Casswell, E and Echave, P and Duchen, MR (2009) IF1, the endogenous regulator of the F1Fo-ATPsynthase, defines mitochondrial volume fraction in HeLa cells by regulating autophagy. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS , 1787 (5) 393 - 401. 10.1016/j.bbabio.2009.02.023.

Cantley, J and Selman, C and Shukla, D and Abramov, AY and Forstreuter, F and Esteban, MA and Claret, M and Lingard, SJ and Clements, M and Harten, SK and Asare-Anane, H and Batterham, RL and Herrera, PL and Persaud, SJ and Duchen, MR and Maxwell, PH and Withers, DJ (2009) Deletion of the von Hippel-Lindau gene in pancreatic beta cells impairs glucose homeostasis in mice. J CLIN INVEST , 119 (1) 125 - 135. 10.1172/JCI26934.

Charlesworth, G and Soryal, I and Smith, S and Sisodiya, SM (2009) Acute, localised paroxysmal pain as the initial manifestation of focal seizures: A case report and a brief review of the literature. PAIN , 141 (3) 300 - 305. 10.1016/j.pain.2008.11.005.

Chio, A and Schymick, JC and Restagno, G and Scholz, SW and Lombardo, F and Lai, SL and Mora, G and Fung, HC and Britton, A and Arepalli, S and Gibbs, JR and Nalls, M and Berger, S and Kwee, LC and Oddone, EZ and Ding, JH and Crews, C and Rafferty, I and Washecka, N and Hernandez, D and Ferrucci, L and Bandinelli, S and Guralnik, J and Macciardi, F and Torri, F and Lupoli, S and Chanock, SJ and Thomas, G and Hunter, DJ and Gieger, C and Wichmann, HE and Calvo, A and Mutani, R and Battistini, S and Giannini, F and Caponnetto, C and Mancardi, GL and La Bella, V and Valentino, F and Monsurro, MR and Tedeschi, G and Marinou, K and Sabatelli, M and Conte, A and Mandrioli, J and Sola, P and Salvi, F and Bartolomei, I and Siciliano, G and Carlesi, C and Orrell, RW and Talbot, K and Simmons, Z and Connor, J and Pioro, EP and Dunkley, T and Stephan, DA and Kasperaviciute, D and Fisher, EM and Jabonka, S and Sendtner, M and Beck, M and Bruijn, L and Rothstein, J and Schmidt, S and Singleton, A and Hardy, J and Traynor, BJ (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. HUM MOL GENET , 18 (8) 1524 - 1532. 10.1093/hmg/ddp059.

Chio, A. and Schymick, J. C. and Restagno, G. and Scholz, S. W. and Lombardo, F. and Lai, S.-L. and Mora, G. and Fung, H.-C. and Britton, A. and Arepalli, S. and Gibbs, J. R. and Nalls, M. and Berger, S. and Kwee, L. C. and Oddone, E. Z. and Ding, J. and Crews, C. and Rafferty, I. and Washecka, N. and Hernandez, D. and Ferrucci, L. and Bandinelli, S. and Guralnik, J. and Macciardi, F. and Torri, F. and Lupoli, S. and Chanock, S. J. and Thomas, G. and Hunter, D. J. and Gieger, C. and Wichmann, H. E. and Calvo, A. and Mutani, R. and Battistini, S. and Giannini, F. and Caponnetto, C. and Mancardi, G. L. and La Bella, V. and Valentino, F. and Monsurro, M. R. and Tedeschi, G. and Marinou, K. and Sabatelli, M. and Conte, A. and Mandrioli, J. and Sola, P. and Salvi, F. and Bartolomei, I. and Siciliano, G. and Carlesi, C. and Orrell, R. W. and Talbot, K. and Simmons, Z. and Connor, J. and Pioro, E. P. and Dunkley, T. and Stephan, D. A. and Kasperaviciute, D. and Fisher, E. M. and Jabonka, S. and Sendtner, M. and Beck, M. and Bruijn, L. and Rothstein, J. and Schmidt, S. and Singleton, A. and Hardy, J. and Traynor, B. J. (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics , 18 (8) pp. 1524-1532. 10.1093/hmg/ddp059.
An open access version is available from UCL Discovery
file

Clarimon, J and Djaldetti, R and Lleo, A and Guerreiro, RJ and Molinuevo, JL and Paisan-Ruiz, C and Gomez-Isla, T and Blesa, R and Singleton, A and Hardy, J (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiology of Aging , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Clarimon, J and Djaldetti, R and Lleo, A and Guerreiro, RJ and Molinuevo, JL and Paisan-Ruiz, C and Gomez-Isla, T and Blesa, R and Singleton, A and Hardy, J (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. NEUROBIOL AGING , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Clarke, C. and Frackowiak, R. and Howard, R. and Rossor, M. and Shorvon, S. (2009) The language of neurology: symptoms, signs and basic investigations. In: Clarke, C. and Howard, R. and Rossor, M. and Shorvon, S., (eds.) Neurology: a Queen Square textbook. (pp. 75-107). Wiley-Blackwell: Chichester, UK.

D

da Costa, CA and Sunyach, C and Giaime, E and West, A and Corti, O and Brice, A and Safe, S and Abou-Sleiman, PM and Wood, NW and Takahashi, H and Goldberg, MS and Shen, J and Checler, F (2009) Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. NAT CELL BIOL , 11 (11) 1370 - U255. 10.1038/ncb1981.

Davidson, Y and Amin, H and Kelley, T and Shi, J and Tian, JZ and Kumaran, R and Lashley, T and Lees, AJ and DuPlessis, D and Neary, D and Snowden, J and Akiyama, H and Arai, T and Hasegawa, M and Bandopadhyay, R and Sikkink, S and Pickering-Brown, S and Mann, DMA (2009) TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing. ACTA NEUROPATHOL , 118 (3) 359 - 369. 10.1007/s00401-009-0526-z.

Deas, E and Plun-Favreau, H and Wood, NW (2009) PINK1 function in health and disease. EMBO MOL MED , 1 (3) 152 - 165. 10.1002/emmm.200900024.
An open access publication

Deriziotis, P. (2009) Cellular mechanisms in prion-mediated neurodegeneration. Doctoral thesis, UCL (University College London).
An open access version is available from UCL Discovery
file

Dickey, C and Kraft, C and Jinwal, U and Koren, J and Johnson, A and Anderson, L and Lebson, L and Lee, D and Dickson, D and de Silva, R and Binder, LI and Morgan, D and Lewis, J (2009) Aging Analysis Reveals Slowed Tau Turnover and Enhanced Stress Response in a Mouse Model of Tauopathy. AM J PATHOL , 174 (1) 228 - 238. 10.2353/ajpath.2009.080764.

Dickson, DW and Braak, H and Duda, JE and Duyckaerts, C and Gasser, T and Halliday, GM and Hardy, J and Leverenz, JB and Del Tredici, K and Wszolek, ZK and Litvan, I (2009) Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. LANCET NEUROL , 8 (12) 1150 - 1157.

Djamshidian, A and Schaefer, J and Haubenberger, D and Stogmann, E and Zimprich, F and Auff, E and Zimprich, A (2009) A NOVEL MUTATION IN THE VCP GENE (G157R) IN A GERMAN FAMILY WITH INCLUSION-BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA. MUSCLE NERVE , 39 (3) 389 - 391. 10.1002/mus.21225.

Duncan, AJ and Bitner-Glindzicz, M and Meunier, B and Costello, H and Hargreaves, IP and Lopez, LC and Hirano, M and Quinzii, CM and Sadowski, MI and Hardy, J and Singleton, A and Clayton, PT and Rahman, S (2009) A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease. AM J HUM GENET , 84 (5) 558 - 566. 10.1016/j.ajhg.2009.03.018.
An open access publication

F

Fialho, D. (2009) Clinical, genetic and electrophysiological study of skeletal muscle channelopathies - new insights into Myotonia congenita and Andersen-Tawil syndrome. Doctoral thesis, UCL (University College London).

Franklin, D and Dhir, S and Pongor, S (2009) Analysis of Kernel Based Protein Classification Strategies Using Pairwise Sequence Alignment Measures. In: Masulli, F and Tagliaferri, R and Verkhivker, GM, (eds.) COMPUTATIONAL INTELLIGENCE METHODS FOR BIOINFORMATICS AND BIOSTATISTICS. (pp. 222 - 231). SPRINGER-VERLAG BERLIN

Fratter, C and Gorman, G and Stewart, JD and Buddles, M and Smith, C and Evans, J and Seller, A and Poulton, J and Roberts, M and Hanna, MG and Rahman, S and Omer, SE and Klopstock, T and Schoser, B and Kornblum, C and Lecky, B and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (2009) Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients. In: NEUROMUSCULAR DISORDERS. (pp. 562 - 562). PERGAMON-ELSEVIER SCIENCE LTD

G

Galkin, A and Abramov, AY and Frakich, N and Duchen, MR and Moncada, S (2009) Lack of Oxygen Deactivates Mitochondrial Complex I IMPLICATIONS FOR ISCHEMIC INJURY? J BIOL CHEM , 284 (52) 36055 - 36061. 10.1074/jbc.M109.054346.
An open access publication

Gandhi, S and Wood-Kaczmar, A and Wood, NW and Duchen, MR and Abramov, AY (2009) PINK1 associated Parkinson's disease is caused by neuronal vulnerability to calcium induced cell death. In: MOVEMENT DISORDERS. (pp. S33 - S33). WILEY-LISS

Gandhi, S and Wood-Kaczmar, A and Yao, Z and Plun-Favreau, H and Deas, E and Klupsch, K and Downward, J and Latchman, DS and Tabrizi, SJ and Wood, NW and Duchen, MR and Abramov, AY (2009) PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-induced Cell Death. MOL CELL , 33 (5) 627 - 638. 10.1016/j.molcel.2009.02.013.
An open access publication

Giunti, P and Loucas, MJ and Hurford, JL and Peplow, CA and Taylor, B and Wilkinson, H (2009) Inter-disciplinary therapy assessment and intervention in ataxia: Current clinical model and case study. In: MOVEMENT DISORDERS. (pp. S13 - S13). WILEY-LISS

Granata, A and Schiavo, G and Warner, TT (2009) TorsinA and dystonia: from nuclear envelope to synapse. J NEUROCHEM , 109 (6) 1596 - 1609. 10.1111/j.1471-4159.2009.06095.x.

Guarnaccia, C and Dhir, S and Pintar, A and Pongor, S (2009) The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1. FEBS J , 276 (21) 6247 - 6257. 10.1111/j.1742-4658.2009.07333.x.

Guerreiro, RJ and Vaskov, T and Crews, C and Singleton, A and Hardy, J (2009) A Case of Dementia With PRNP D178Ncis-129M and No Insomnia. ALZ DIS ASSOC DIS , 23 (4) 415 - 417.

H

Hardy, J (2009) GENETIC ANALYSIS OF NEURODEGENERATION. In: JOURNAL OF NEUROCHEMISTRY. (pp. 11 - 11). WILEY-BLACKWELL PUBLISHING, INC

Hardy, J (2009) Genetic analysis of sporadic neurodegenerative disease. In: JOURNAL OF THE NEUROLOGICAL SCIENCES. (pp. S33 - S33). ELSEVIER SCIENCE BV

Hardy, J (2009) Genetic dissection of neurodegenerative disease. In: JOURNAL OF NEUROCHEMISTRY. (pp. 1 - 1). WILEY-BLACKWELL PUBLISHING, INC

Hardy, J (2009) The amyloid hypothesis for Alzheimer's disease: a critical reappraisal. J NEUROCHEM , 110 (4) 1129 - 1134. 10.1111/j.1471-4159.2009.06181.x.

Hardy, J and Coleman, PD (2009) Genetic Analysis Publications in Neurobiology of Aging. NEUROBIOLOGY OF AGING , 30 (4) 506 - 506. 10.1016/j.neurobiolaging.2009.01.003.

Hardy, J and Lewis, P and Revesz, T and Lees, A and Paisan-Ruiz, C (2009) The genetics of Parkinson's syndromes: a critical review. CURR OPIN GENET DEV , 19 (3) 254 - 265. 10.1016/j.gde.2009.03.008.

Hardy, J and Singleton, A (2009) CURRENT CONCEPTS Genomewide Association Studies and Human Disease. NEW ENGL J MED , 360 (17) 1759 - 1768. 10.1056/NEJMra0808700.

Hardy, J and Trabzuni, D and Ryten, M (2009) Whole genome expression as a quantitative trait. BIOCHEM SOC T , 37 1276 - 1277. 10.1042/BST0371276.

Harold, D and Abraham, R and Hollingworth, P and Sims, R and Gerrish, A and Hamshere, ML and Pahwa, JS and Moskvina, V and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Schürmann, B and Van Den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JSK and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and De Deyn, PP and Van Broeckhoven, C and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, K-H and Klopp, N and Wichmann, H-E and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Holmans, PA and O'Donovan, M and Owen, MJ and Williams, J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics , 41 (10) 1088 - 1093.

Harold, D and Abraham, R and Hollingworth, P and Sims, R and Gerrish, A and Hamshere, ML and Pahwa, JS and Moskvina, V and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Schurmann, B and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frolich, L and Hampel, H and Hull, M and Rujescu, D and Goate, AM and Kauwe, JSK and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and De Deyn, PP and Van Broeckhoven, C and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Muhleisen, TW and Nothen, MM and Moebus, S and Jockel, KH and Klopp, N and Wichmann, HE and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Holmans, PA and O'Donovan, M and Owen, MJ and Williams, J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. NAT GENET , 41 (10) 1088 - U61. 10.1038/ng.440.

Harold, D and Abraham, R and Hollingworth, P and Sims, R and Gerrish, A and Hamshere, ML and Pahwa, JS and Moskvina, V and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Schurmann, B and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frolich, L and Hampel, H and Hull, M and Rujescu, D and Goate, AM and Kauwe, JSK and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and De Deyn, PP and Van Broeckhoven, C and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Muhleisen, TW and Nothen, MM and Moebus, S and Jockel, KH and Klopp, N and Wichmann, HE and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Holmans, PA and O'Donovan, M and Owen, MJ and Williams, J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009). NAT GENET , 41 (10) 1156 - 1156. 10.1038/ng1009-1156d.

Healy, DG and Bressman, S and Dickson, J and Silveira-Moriyama, L and Schneider, SA and Sullivan, SSO and Massey, L and Bhatia, KP and Shaw, K and Bomanji, J and Wood, NW and Lees, AJ (2009) Evidence for Pre and Postsynaptic Nigrostriatal Dysfunction in the Fragile X Tremor-Ataxia Syndrome. MOVEMENT DISORD , 24 (8) 1245 - 1247. 10.1002/mds.22267.

Healy, DG and Goadsby, PJ and Kitchen, ND and Yousry, T and Hanna, MG (2009) Spontaneous intracranial hypotension, hygromata and haematomata. BMJ Case Rep , 2009 bcr2007132019 - ?. 10.1136/bcr.2007.132019.

Healy, DG and Sullivan, SO and Bonifati, V and Durr, A and Bressman, S and Brice, A and Aasly, J and Zabetian, C and Ferreira, J and Tolosa, E and Klein, C and Lang, A and Wszolek, Z and Lynch, T and Bhatia, K and Gasser, T and Lees, AJ and Wood, NW (2009) LRRK2 ASSOCIATED PARKINSON'S DISEASE: CLINICAL FACTORS BASED ON WORLDWIDE EXPERIENCE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 105 - 106). B M J PUBLISHING GROUP

Heckman, CA and Demuth, JG and Deters, D and Malwade, SR and Cayer, ML and Monfries, C and Mamais, A (2009) Relationship of p21-Activated Kinase (PAK) and Filopodia to Persistence and Oncogenic Transformation. J CELL PHYSIOL , 220 (3) 576 - 585. 10.1002/jcp.21788.

Heeroma, JH and Henneberger, C and Rajakulendran, S and Hanna, MG and Schorge, S and Kullmann, DM (2009) Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. DIS MODEL MECH , 2 (11-12) 612 - 619. 10.1242/dmm.003582.
An open access publication

Holton, JL and Lashley, T and Strand, C and Ling, H and Venner, K and Quinn, N and Lees, AJ and Revesz, T (2009) Lewy bodies in surviving transplanted neurons indicate host-to-graft propagation of Parkinson's disease pathology. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 2 - 3). BLACKWELL PUBLISHING

Hornemann, T and Penno, A and Reilley, M and Houlden, H and Laura, M and Rentsch, K and Eichler, F and Brown, B and von Eckardstein, A (2009) ACCUMULATION OF TWO ATYPICAL SPHINGOLIPIDS IN HSAN I. In: JOURNAL OF NEUROCHEMISTRY. (pp. 88 - 89). WILEY-BLACKWELL PUBLISHING, INC

Houlden, H (2009) The small, spastic, and furrowed tongue of Allgrove syndrome. NEUROLOGY , 72 (15) 1366 - 1366. 10.1212/WNL.0b013e3181a0fe97.
An open access publication

Houlden, H and Hammans, S and Katifi, H and Reilly, MM (2009) A novel Frabin (FGD4) nonsense mutation p. R275X associated with phenotypic variability in CMT4H. NEUROLOGY , 72 (7) 617 - 620.
An open access publication

Houlden, H and Laura, M and Ginsberg, L and Jungbluth, H and Robb, SA and Blake, J and Robinson, S and King, RHM and Reilly, MM (2009) The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. NEUROMUSCULAR DISORD , 19 (4) 264 - 269. 10.1016/j.nmd.2009.01.006.

Houlden, H and Reilly, MM and Smith, S (2009) Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. EYE , 23 (4) 966 - 974. 10.1038/eye.2008.221.

Huang, L and Li, Y and Singleton, AB and Hardy, JA and Abecasis, G and Rosenberg, NA and Scheet, P (2009) Genotype-Imputation Accuracy across Worldwide Human Populations. AM J HUM GENET , 84 (2) 235 - 250. 10.1016/j.ajhg.2009.01.013.

K

Kalinderi, K and Bostantjopoulou, S and Paisan-Ruiz, C and Katsarou, Z and Hardy, J and Fidani, L (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. NEUROSCI LETT , 452 (2) 87 - 89. 10.1016/j.neulet.2009.01.029.

Kalinderi, K and Bostantjopoulou, S and Paisan-Ruiz, C and Katsarou, Z and Hardy, J and Fidani, L (2009) Complete screening for glucocerebrosidase mutations in Parkinson's disease patients from Greece. In: MOVEMENT DISORDERS. (pp. S138 - S138). WILEY-LISS

Kalscheuer, VM and Musante, L and Fang, C and Hoffmann, K and Fuchs, C and Carta, E and Deas, E and Venkateswarlu, K and Menzel, C and Ullmann, R and Tommerup, N and Dalpra, L and Tzschach, A and Selicorni, A and Luscher, B and Ropers, HH and Harvey, K and Harvey, RJ (2009) A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation. HUM MUTAT , 30 (1) 61 - 68. 10.1002/humu.20814.

Kielar, C and Wishart, TM and Palmer, A and Dihanich, S and Wong, AM and Macauley, SL and Chan, CH and Sands, MS and Pearce, DA and Cooper, JD and Gillingwater, TH (2009) Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. HUM MOL GENET , 18 (21) 4066 - 4080. 10.1093/hmg/ddp355.

Kloppel, S and Chu, C and Tan, GC and Draganski, B and Johnson, H and Paulsen, JS and Kienzle, W and Tabrizi, SJ and Ashburner, J and Frackowiak, RSJ and PREDICT-HD Investigators Huntingto, (2009) Automatic detection of preclinical neurodegeneration Presymptomatic Huntington disease. NEUROLOGY , 72 (5) 426 - 431.

Kostareli, E and Gounari, M and Preza, E and Psatha, N and Kouvatsi, A and Anagnostopoulos, A and Thompson, K and Stamatopoulos, K (2009) ESTABLISHMENT OF HETEROHYBRIDOMAS FROM CHRONIC LYMPHOCYTIC LEUKEMIA (CLL) CELLS AND FUNCTIONAL ANALYSIS OF THE CLONOTYPIC B CELL RECEPTORS (BCRS). In: EXPERIMENTAL HEMATOLOGY. (pp. S42 - S42). ELSEVIER SCIENCE INC

Kumaran, R and Vandrovcova, J and Lees, AJ and Bandopadhyay, R (2009) DJ-1 (PARK7) gene expression and interactors: implications for idiopathic Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 14 - 14). BLACKWELL PUBLISHING

Kumaran, R and Vandrovcova, J and Luk, C and Sharma, S and Renton, A and Wood, NW and Hardy, JA and Lees, AJ and Bandopadhyay, R (2009) Differential DJ-1 gene expression in Parkinson's disease. NEUROBIOL DIS , 36 (2) 393 - 400. 10.1016/j.nbd.2009.08.011.

Kumaran, R. (2009) Characterisation of DJ1 (PARK7) in human brain: possible involvement in idiopathic Parkinson's disease and other neurodegenerative disorders. Doctoral thesis, UCL (University College London).
An open access version is available from UCL Discovery
file

L

Labrum, R and Rajakulendran, S and Sweeney, MG and Bevan, R and Hanna, MG and Davis, MB (2009) Screening for mutations causing episodic ataxia type 1 (EA1) and 2 (EA2). In: JOURNAL OF MEDICAL GENETICS. (pp. S71 - S71). B M J PUBLISHING GROUP

Labrum, RW and Rajakulendran, S and Graves, TD and Eunson, LH and Bevan, R and Sweeney, MG and Hammans, SR and Tubridy, N and Britton, T and Carr, LJ and Ostergaard, JR and Kennedy, CR and Al-Memar, A and Kullmann, DM and Schorge, S and Temple, K and Davis, MB and Hanna, MG (2009) Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. J MED GENET , 46 (11) 786 - 791. 10.1136/jmg.2009.067967.

Lace, G and Forster, G and Savva, G and Matthews, F and Brayne, C and De Silva, R and Strong, MJ and Ince, PG and Wharton, SB (2009) Variation in 4R and 3R tau isoforms in the ageing population. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 19 - 19). BLACKWELL PUBLISHING

Lace, G and Savva, GM and Forster, G and de Silva, R and Brayne, C and Matthews, FE and Barclay, JJ and Dakin, L and Ince, PG and Wharton, SB and MRC CFAS, (2009) Hippocampal tau pathology is related to neuroanatomical connections: an ageing population-based study. BRAIN , 132 1324 - 1334. 10.1093/brain/awp059.

Laura, M and Houlden, H and Blake, J and Ginsberg, L and Jungbluth, H and Robb, S and King, R and Reilly, MM (2009) CHARCOT-MARIE-TOOTH TYPE 4C CAUSED BY MUTATION OF THE KIAA1985 GENE: REPORT OF SIX FAMILIES WITH VARIABLE PHENOTYPE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 114 - 114). B M J PUBLISHING GROUP

Laura, M and Houlden, H and Blake, J and Ginsberg, L and Jungbluth, H and Robb, S and King, RHM and Lunn, MPT and Reilly, MM (2009) CHARCOT-MARIE-TOOTH TYPE 4C CAUSED BY MUTATION OF KIAA1985 GENE: REPORT OF 5 FAMILIES WITH VARIABLE PHENOTYPE. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 86 - 87). WILEY-BLACKWELL PUBLISHING, INC

Laura, M and Houlden, H and Blake, J and Reilly, MM (2009) MUTATIONS IN THE HSP27 GENE CAUSE DOMINANT, RECESSIVE AND SPORADIC DISTAL HMN/CMT TYPE 2. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 101 - 101). B M J PUBLISHING GROUP

Laura, M and Hutton, EJ and Morrow, JM and Blake, J and Lunn, MPT and Pareyson, D and Koltzenburg, M and Reilly, MM (2009) PAIN AND SMALL FIBRE FUNCTION IN CMT 1A: PRELIMINARY RESULTS. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 87 - 87). WILEY-BLACKWELL PUBLISHING, INC

Lees, AJ and Hardy, J and Revesz, T (2009) Parkinson's disease. LANCET , 373 (9680) 2055 - 2066.

Lees, AJ and Hardy, J and Revesz, T (2009) Parkinson's disease (vol 373, pg 2055, 2009). LANCET , 374 (9691) 684 - 684.

Lewis, PA (2009) The function of ROCO proteins in health and disease. BIOL CELL , 101 (3) 183 - 191. 10.1042/BC20080053.

Li, A and Paisan-Ruiz, C and Holton, JL and Schneider, S and Hardy, J and Kidd, D and Chataway, J and Bhatia, KP and Houlden, H and Revesz, T (2009) A pathological genotype-phenotype study of four neuroaxonal dystrophy cases with PLA2G6 mutations. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 20 - 20). BLACKWELL PUBLISHING

Li, YC and Dunn, L and Greggio, E and Krumm, B and Jackson, GS and Cookson, MR and Lewis, PA and Deng, JP (2009) The R1441C mutation alters the folding properties of the ROC domain of LRRK2. BBA-MOL BASIS DIS , 1792 (12) 1194 - 1197. 10.1016/j.bbadis.2009.09.010.

Ling, H and Bhidayasiri, R (2009) Reversible Parkinsonism after chronic cyclosporin treatment in renal transplantation. Mov Disord , 24 (12) 1848 - 1849. 10.1002/mds.22530.

Ling, H and O'Sullivan, S and Paviour, D and Massey, L and Holton, J and Revesz, T and Lees, A (2009) Diagnostic accuracy in 18 cases of pathologically confirmed corticobasal degeneration. In: MOVEMENT DISORDERS. (pp. S409 - S410). WILEY-LISS

Ling, H and Unnwongse, K and Bhidayasiri, R (2009) Complex movement disorders in a sporadic Boucher-Neuhäuser Syndrome: Phenotypic manifestations beyond the triad. Mov Disord , 24 (15) 2304 - 2306. 10.1002/mds.22831.

Liu, W and Ding, JH and Gibbs, JR and Wang, SJ and Hardy, J and Singleton, A (2009) A simple and efficient algorithm for genome-wide homozygosity analysis in disease. MOL SYST BIOL , 5 , Article 304. 10.1038/msb.2009.53.
An open access publication

Luk, C and Giovannoni, G and Williams, DR and Lees, AJ and de Silva, R (2009) Development of a sensitive ELISA for quantification of three- and four-repeat tau isoforms in tauopathies. J NEUROSCI METH , 180 (1) 34 - 42. 10.1016/j.jneumeth.2009.02.015.

Lundin, JS and Vandrovcova, J and Song, B and Zhou, X and Zelada-Hedman, M and Werelius, B and Houlston, RS and Lindblom, A (2009) TGFBR1 variants TGFBR1*6A and Int7G24A are not associated with an increased familial colorectal cancer risk. BRIT J CANCER , 100 (10) 1674 - 1679. 10.1038/sj.bjc.6605054.

Lunn, M and Hanna, M and Howard, R and Parton, M and Reilly, M (2009) Nerve and muscle disease. In: Clarke, C and Howard, R and Rossor, M and Shorvon, S, (eds.) Neurology: a Queen Square textbook. (337 - 410). Wiley-Blackwell: Chichester.

Lynch, JM and Tate, SK and Kinirons, P and Weale, ME and Cavalleri, GL and Depondt, C and Murphy, K and O'Rourke, D and Doherty, CP and Shianna, KV and Wood, NW and Sander, JW and Delanty, N and Goldstein, DB and Sisodiya, SM (2009) No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. EPILEPSY RES , 83 (1) 44 - 51. 10.1016/j.eplepsyres.2008.09.003.

M

Machado, P and Miller, A and Holton, J and Hanna, M (2009) SPORADIC INCLUSION BODY MYOSITIS: AN UNSOLVED MYSTERY. ACTA REUMATOL PORT , 34 (2) 161 - 182.

Mackenzie, IRA and Neumann, M and Bigio, EH and Cairns, NJ and Alafuzoff, I and Kril, J and Kovacs, GG and Ghetti, B and Halliday, G and Holm, IE and Ince, PG and Kamphorst, W and Revesz, T and Rozemuller, AJM and Kumar-Singh, S and Akiyama, H and Baborie, A and Spina, S and Dickson, DW and Trojanowski, JQ and Mann, DMA (2009) Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. ACTA NEUROPATHOL , 117 (1) 15 - 18. 10.1007/s00401-008-0460-5.

Massey, L and Lashley, T and O'Sullivan, S and Phadke, R and Moriyama, L and Lees, AJ and Holton, JL and Revesz, T (2009) TAR DNA binding protein-43 (TDP-43) proteinopathy in association with progressive supranuclear palsy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 29 - 29). BLACKWELL PUBLISHING

Massey, L and Paviour, D and O'Sullivan, S and Burn, D and Holton, J and Revesz, T and Lees, A and Jager, R and Micallef, C (2009) A systematic, comprehensive, blinded radiological study of MR findings in pathologically confirmed PSP, MSA and PD. In: MOVEMENT DISORDERS. (pp. S199 - S200). WILEY-LISS

Matarin, M and Brown, WM and Dena, H and Britton, A and De Vrieze, FW and Brott, TG and Brown, RD and Worrall, BB and Case, LD and Chanock, SJ and Metter, EJ and Ferruci, L and Gamble, D and Hardy, JA and Rich, SS and Singleton, A and Meschia, JF (2009) Candidate Gene Polymorphisms for Ischemic Stroke. STROKE , 40 (11) 3436 - 3442. 10.1161/STROKEAHA.109.558015.

Matthews, E and Labrum, R and Sweeney, MG and Sud, R and Haworth, A and Chinnery, PF and Meola, G and Schorge, S and Kullmann, DM and Davis, MB and Hanna, MG (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. NEUROLOGY , 72 (18) 1544 - 1547.

Mattsson, N and Zetterberg, H and Hansson, O and Andreasen, N and Parnetti, L and Jonsson, M and Herukka, SK and van der Flier, WM and Blankenstein, MA and Ewers, M and Rich, K and Kaiser, E and Verbeek, M and Tsolaki, M and Mulugeta, E and Rosén, E and Aarsland, D and Visser, PJ and Schröder, J and Marcusson, J and de Leon, M and Hampel, H and Scheltens, P and Pirttilä, T and Wallin, A and Jönhagen, ME and Minthon, L and Winblad, B and Blennow, K (2009) CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment. JAMA , 302 (4) 385 - 393. 10.1001/jama.2009.1064.

Meola, G and Hanna, MG and Fontaine, B (2009) Diagnosis and new treatment in muscle channelopathies. J NEUROL NEUROSUR PS , 80 (4) 360 - 365. 10.1136/jnnp.2008.164046.

Merrison, AF and Hanna, MG (2009) The bare essentials: muscle disease. Pract Neurol , 9 (1) 54 - 65. 10.1136/jnnp.2008.167171.

Merrison, AFA and Hanna, MG (2009) Muscle disease. Practical Neurology , 9 (1) 54 - 65.

Michell, AW and Laura, M and Blake, J and Lunn, MP and Cox, A and Gibbons, VS and Davis, MB and Wood, NW and Manji, H and Houlden, H and Murray, NMF and Reilly, MM (2009) GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J NEUROL NEUROSUR PS , 80 (6) 699 - 700. 10.1136/jnnp.2008.150557.

Moisoi, N and Klupsch, K and Fedele, V and East, P and Sharma, S and Renton, A and Plun-Favreau, H and Edwards, RE and Teismann, P and Esposti, MD and Morrison, AD and Wood, NW and Downward, J and Martins, LM (2009) Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response. CELL DEATH DIFFER , 16 (3) 449 - 464. 10.1038/cdd.2008.166.

Momeni, P and Pittman, A and Lashley, T and Vandrovcova, J and Malzer, E and Luk, C and Hulette, C and Lees, A and Revesz, T and Hardy, J and de Silva, R (2009) Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. NEUROBIOL AGING , 30 (3) 388 - 393. 10.1016/j.neurobiolaging.2007.07.013.

Murphy, S and Gorman, G and Beetz, C and Byrne, P and Dytko, M and McMonagle, P and Kinsella, K and Farrell, M and Hutchinson, M (2009) Dementia in hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. Neurology , 73 378 - 384. 10.1212/ANL.0b013e3181b04c6c.

Murphy, SM and Delanty, N (2009) Treatment of the epilepsy patient with concomitant medical conditions. In: French, JA and Delanty, N, (eds.) Therapeutic strategies in epilepsy. (229 - 249). Clinical Publishing: Oxford.

Murphy, SM and Farrell, MA and Hennessy, MJ (2009) Postpartum relapsing sensory neuritis responsive to intravenous immunoglobulin. Journal of Neurology , 256 2085 - 2086. 10.1007/s00415-009-5276-2.

N

Nalls, MA and Guerreiro, RJ and Simon-Sanchez, J and Bras, JT and Traynor, BJ and Gibbs, JR and Launer, L and Hardy, J and Singleton, AB (2009) Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. NEUROGENETICS , 10 (3) 183 - 190. 10.1007/s10048-009-0182-4.

Nalls, MA and Simon-Sanchez, J and Gibbs, JR and Paisan-Ruiz, C and Bras, JT and Tanaka, T and Matarin, M and Scholz, S and Weitz, C and Harris, TB and Ferrucci, L and Hardy, J and Singleton, AB (2009) Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genetics , 5 (3) e1000415 - ?. 10.1371/journal.pgen.1000415.
An open access publication

Nalls, MA and Simon-Sanchez, J and Gibbs, JR and Paisan-Ruiz, C and Bras, JT and Tanaka, T and Matarin, M and Scholz, S and Weitz, C and Harris, TB and Ferrucci, L and Hardy, J and Singleton, AB (2009) Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics. PLOS GENET , 5 (3) , Article e1000415. 10.1371/journal.pgen.1000415.
An open access publication

Narooie-Nejad, M and Paylakhi, SH and Shojaee, S and Fazlali, Z and Kanavi, MR and Nilforushan, N and Yazdani, S and Babrzadeh, F and Suri, F and Ronaghi, M and Elahi, E and Paisan-Ruiz, C (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. HUM MOL GENET , 18 (20) 3969 - 3977. 10.1093/hmg/ddp338.

Neumann, J and Bras, J and Deas, E and O'Sullivan, SS and Parkkinen, L and Lachmann, RH and Li, A and Holton, J and Guerreiro, R and Paudel, R and Segarane, B and Singleton, A and Lees, A and Hardy, J and Houlden, H and Revesz, T and Wood, NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044.
An open access publication

Neumann, J and Parkkinen, L and Bras, J and O'sullivan, SS and Deas, E and Lachmann, H and Li, A and Holton, L and Guerreiro, R and Paudel, R and Segarane, B and Singleton, A and Lees, A and Hardy, J and Houlden, H and Revesz, T and Wood, NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

O

O'Sullivan, SS and Massey, LA and Williams, DR and Revesz, T and Lees, A and Holton, J (2009) Parkinson's disease with Onuf's nucleus involvement mimicking multiple system atrophy. BMJ Case Rep , 2009 10.1136/bcr.08.2008.0774.

O'Sullivan, SS and Massey, LA and Williams, DR and Silveira-Moriyama, L and Kempster, PA and Holton, JL and Revesz, T and Lees, AJ (2009) CLINICAL OUTCOMES OF PROGRESSIVE SUPRANUCLEAR PALSY AND MULTIPLE SYSTEM ATROPHY. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 109 - 109). B M J PUBLISHING GROUP

P

Paisan-Ruiz, C (2009) LRRK2 Gene Variation and Its Contribution to Parkinson Disease. HUM MUTAT , 30 (8) 1153 - 1160. 10.1002/humu.21038.

Paisan-Ruiz, C and Bhatia, KP and Li, A and Hernandez, D and Davis, M and Wood, NW and Hardy, J and Houlden, H and Singleton, A and Schneider, SA (2009) Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism. ANN NEUROL , 65 (1) 19 - 23. 10.1002/ana.21415.

Paisan-Ruiz, C and Ruiz-Martinez, J and Ruibal, M and Mok, KY and Indakoetxea, B and Gorostidi, A and Masso, JFM (2009) Identification of a Novel THAP1 Mutation at R29 Amino-acid Residue in Sporadic Patients with Early-Onset Dystonia. MOVEMENT DISORD , 24 (16) 2428 - 2429. 10.1002/mds.22849.

Paisan-Ruiz, C and Scopes, G and Lee, P and Houlden, H (2009) Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder. AM J MED GENET B , 150B (7) 993 - 997. 10.1002/ajmg.b.30929.

Paisan-Ruiz, C and Washecka, N and Nath, P and Singleton, AB and Corder, EH (2009) Parkinson's Disease and Low Frequency Alleles Found Together Throughout LRRK2. ANN HUM GENET , 73 391 - 403. 10.1111/j.1469-1809.2009.00524.x.

Parkkinen, L and O'Sullivan, S and Holton, JL and Kuoppamaki, M and Lees, A and Revesz, T (2009) Does L-dopa have toxic effects in Parkinson's disease brain? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 28 - 28). BLACKWELL PUBLISHING

Parkkinen, L and Silveira-Moriyama, L and Holton, JL and Lees, AJ and Revesz, T (2009) Can olfactory bulb biopsy be justified for the diagnosis of Parkinson's disease? Comments on "olfactory bulb alpha-synucleinopathy has high specificity and sensitivity for Lewy body disorders". ACTA NEUROPATHOL , 117 (2) 213 - 214. 10.1007/s00401-008-0462-3.

Paudel, R and Laura, M and Lunn, MPT and Hammans, S and Katifi, H and Houlden, H and Reilly, MM (2009) MUTATIONS IN THE FRABIN GENE CAN CAUSE A VARIABLE PHENOTYPE AND LEAD TO PROTEIN TRUNCATION. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 118 - 118). WILEY-BLACKWELL PUBLISHING, INC

Pavese, N and Khan, NL and Scherfler, C and Cohen, L and Brooks, DJ and Wood, NW and Bhatia, KP and Quinn, NP and Lees, AJ and Piccini, P (2009) Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An F-18-Dopa PET Progression Study. MOVEMENT DISORD , 24 (15) 2260 - 2266. 10.1002/mds.22817.

Pintar, A and Guarnaccia, C and Dhir, S and Pongor, S (2009) Exon 6 of human JAG1 encodes a conserved structural unit. BMC STRUCT BIOL , 9 , Article 43. 10.1186/1472-6807-9-43.

Pittman, AM and Naranjo, S and Webb, E and Broderick, P and Lips, EH and van Wezel, T and Morreau, H and Sullivan, K and Fielding, S and Twiss, P and Vijayakrishnan, J and Casares, F and Qureshi, M and Gómez-Skarmeta, JL and Houlston, RS (2009) The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression. Genome Res , 19 (6) 987 - 993. 10.1101/gr.092668.109.

Pittman, AM and Twiss, P and Broderick, P and Lubbe, S and Chandler, I and Penegar, S and Houlston, RS (2009) The CDH1-160C>A polymorphism is a risk factor for colorectal cancer. Int J Cancer , 125 (7) 1622 - 1625. 10.1002/ijc.24542.

Polke, J and Ling, H and Sweeney, MG and Haworth, A and Houlden, H and Foskett, P and Wood, N and Lees, A and Davis, M (2009) Single Exon Rearrangements of GTP Cyclohydrolase I in Two Families with Dopa-Responsive Dystonia. In: JOURNAL OF MEDICAL GENETICS. (pp. S73 - S73). B M J PUBLISHING GROUP

Potter, NE and Phipps, K and Harkness, W and Hayward, R and Thompson, D and Jacques, TS and Harding, B and Thomas, DGT and Rees, J and Darling, JL and Warr, TJ (2009) Astrocytoma derived short-term cell cultures retain molecular signatures characteristic of the tumour in situ. EXP CELL RES , 315 (16) 2835 - 2846. 10.1016/j.yexcr.2009.06.003.

Proukakis, C and Moore, D and Labrum, R and Wood, NW and Houlden, H (2009) A clinical and genetic study of hereditary spastic paraplegia caused by SPAST/SPG4 mutations, including 12 new mutations. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 296 - 296). WILEY-BLACKWELL PUBLISHING, INC

R

Rahman, S and Hanna, MG (2009) Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. J NEUROL NEUROSUR PS , 80 (9) 943 - 953. 10.1136/jnnp.2008.158279.

Rahman, S and Hanna, MG (2009) Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry , 80 (9) 943 - 953. 10.1136/jnnp.2008.158279.

Rajakulendran, S and Graves, T and Kullmann, D and Schorge, S and Hanna, M (2009) Variation in CACNA1A associated with episodic ataxia and epilepsy. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 46 - 46). WILEY-BLACKWELL PUBLISHING, INC

Rajakulendran, S and Tan, SV and Matthews, E and Tomlinson, SE and Labrum, R and Sud, R and Kullmann, DM and Schorge, S and Hanna, MG (2009) A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A. NEUROLOGY , 73 (12) 993 - 995. 10.1212/WNL.0b013e3181b87959.

Revesz, T and Holton, JL and Lashley, T and Plant, G and Frangione, B and Rostagno, A and Ghiso, J (2009) Erratum: Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies (Acta Neuropathologica (2009) vol. 118 (115-130) 10.1007/s00401-009-0501-8). Acta Neuropathologica , 118 (2) 321 - 321.

Revesz, T and Holton, JL and Lashley, T and Plant, G and Frangione, B and Rostagno, A and Ghiso, J (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. ACTA NEUROPATHOL , 118 (1) 115 - 130. 10.1007/s00401-009-0501-8.
An open access publication

Revesz, T and Holton, JL and Lashley, T and Plant, G and Frangione, B and Rostagno, A and Ghiso, J (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies (vol 118, pg 115, 2009). ACTA NEUROPATHOL , 118 (2) 321 - 321. 10.1007/s00401-009-0555-7.

Ricciardi, F and Paisan-Ruiz, C and Kang, JS and Hilker, R and Gispert-Sanchez, S and Hardy, J and Auburger, G (2009) A Turkish consanguineous family with adult generalised dystonia shows autozygosity overlap with the Jewish autosomal recessive DYT2 family. In: JOURNAL OF NEURAL TRANSMISSION. (pp. 240 - 241). SPRINGER WIEN

Rohrer, JD and Beck, J and Warren, JD and King, A and Al Sarraj, S and Holton, J and Revesz, T and Collinge, J and Mead, S (2009) Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation. J NEUROL NEUROSUR PS , 80 (11) 1297 - 1298. 10.1136/jnnp.2008.169383.

Rohrer, JD and Guerreiro, R and Vandrovcova, J and Uphill, J and Reiman, D and Beck, J and Isaacs, AM and Authier, A and Ferrari, R and Fox, NC and Mackenzie, IRA and Warren, JD and de Silva, R and Holton, J and Revesz, T and Hardy, J and Hardy, J and Mead, S and Rossor, MN (2009) The heritability and genetics of frontotemporal lobar degeneration. NEUROLOGY , 73 (18) 1451 - 1456.

Roiser, JP and de Martino, B and Tan, GCY and Kumaran, D and Seymour, B and Wood, NW and Dolan, RJ (2009) A Genetically Mediated Bias in Decision Making Driven by Failure of Amygdala Control. J NEUROSCI , 29 (18) 5985 - 5991. 10.1523/JNEUROSCI.0407-09.2009.
An open access publication

Rollinson, S and Rizzu, P and Sikkink, S and Baker, M and Halliwell, N and Snowden, J and Traynor, BJ and Ruano, D and Cairns, N and Rohrer, JD and Mead, S and Collinge, J and Rossor, M and Akay, E and Guerreiro, R and Rademakers, R and Morrison, KE and Pastor, P and Alonso, E and Martinez-Lage, P and Graff-Radford, N and Neary, D and Heutink, P and Mann, DMA and Van Swieten, J and Pickering-Brown, SM (2009) Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. NEUROBIOL AGING , 30 (4) 656 - 665. 10.1016/j.neurobiolaging.2009.01.009.

Royal, E and Reynolds, FA and Houlden, H (2009) What are the experiences of adults returning to work following recovery from Guillain-Barre syndrome? An interpretative phenomenological analysis. DISABIL REHABIL , 31 (22) 1817 - 1827. 10.1080/09638280902822294.

Ryten, M and Trabzuni, D and Hardy, J (2009) Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. Briefings in Functional Genomics , 8 (3) 194 - 198. 10.1093/bfgp/elp028.

Ryten, M and Trabzuni, D and Hardy, J (2009) Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. Brief Funct Genomic Proteomic , 8 (3) 194 - 198. 10.1093/bfgp/elp028.

S

Schaefer, J and Djamshidian, A and Geiger, K and Haubenberger, D and Stogmann, E and Zimprich, F and Zimprich, A (2009) Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia due to a novel mutation in the VCP gene. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 238 - 238). WILEY-BLACKWELL PUBLISHING, INC

Schneider, SA and Bhatia, KP and Hardy, J (2009) Complicated Recessive Dystonia Parkinsonism Syndromes. MOVEMENT DISORD , 24 (4) 490 - 499. 10.1002/mds.22314.

Schneider, SA and Hardy, J and Bhatia, KP (2009) Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J NEUROL NEUROSUR PS , 80 (6) 589 - 590. 10.1136/jnnp.2008.169953.

Schneider, SA and Paisan-Ruiz, C and Garcia-Gorostiaga, I and Quinn, NP and Weber, YG and Lerche, H and Hardy, J and Bhatia, KP (2009) GLUT1 Gene Mutations Cause Sporadic Paroxysmal Exercise-Induced Dyskinesias. MOVEMENT DISORD , 24 (11) 1684 - 1688. 10.1002/mds.22507.

Schneider, SAS and Paisan-Ruiz, C and Garcia-Gorostiaga, I and Quinn, NP and Weber, Y and Lerche, H and Hardy, J and Bhatia, KP (2009) GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. In: MOVEMENT DISORDERS. (pp. S106 - S106). WILEY-LISS

Scholz, SW and Houlden, H and Schulte, C and Sharma, M and Li, A and Berg, D and Melchers, A and Paudel, R and Gibbs, JR and Simon-Sanchez, J and Paisan-Ruiz, C and Bras, J and Ding, JH and Chen, H and Traynor, BJ and Arepalli, S and Zonozi, RR and Revesz, T and Holton, J and Wood, N and Lees, A and Oertel, W and Wullner, U and Goldwurm, S and Pellecchia, MT and Illig, T and Riess, O and Fernandez, HH and Rodriguez, RL and Okun, MS and Poewe, W and Wenning, GK and Hardy, JA and Singleton, AB and Gasser, T (2009) SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy. ANN NEUROL , 65 (5) 610 - 614. 10.1002/ana.21685.

Scholz, SW and Houlden, H and Schulte, C and Sharma, M and Li, A and Berg, D and Melchers, A and Paudel, R and Gibbs, JR and Simon-Sanchez, J and Paisan-Ruiz, C and Bras, J and Ding, JH and Chen, HL and Traynor, BJ and Arepalli, S and Zonozi, RR and Revesz, T and Holton, J and Wood, N and Lees, A and Oertel, W and Wuellner, U and Goldwurm, S and Pelleccia, MT and Illig, T and Riess, O and Fernandez, HH and Rodriguez, RL and Okun, MS and Poewe, W and Wenning, GK and Hardy, JA and Singleton, AB and Gasser, T (2009) SNCA Variants Are Associated with Increased Risk of Multiple System Atrophy. In: ANNALS OF NEUROLOGY. (pp. S54 - S54). WILEY-LISS

Schulz, JB and Boesch, S and Burk, K and Durr, A and Giunti, P and Mariotti, C and Pousset, F and Schols, L and Vankan, P and Pandolfo, M (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. NAT REV NEUROL , 5 (4) 222 - 234. 10.1038/nrneurol.2009.26.

Segarane, B and Li, A and Paudel, R and Scholz, S and Neumann, J and Lees, A and Revesz, T and Hardy, J and Mathias, CJ and Wood, NW and Holton, J and Houlden, H (2009) GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY. NEUROLOGY , 72 (13) 1185 - 1186. 10.1212/01.wnl.0000345356.40399.eb.
An open access publication

Selikhova, M and Williams, DR and Kempster, PA and Holton, JL and Revesz, T and Lees, AJ (2009) A clinico-pathological study of subtypes in Parkinson's disease. BRAIN , 132 2947 - 2957. 10.1093/brain/awp234.

Sewry, CA and Holton, J and Dick, DJ and Jacques, T and Muntoni, F and Hanna, M (2009) Zebra body myopathy resolved. In: NEUROMUSCULAR DISORDERS. (pp. 637 - 638). PERGAMON-ELSEVIER SCIENCE LTD

Sharma, S and Bandopadhyay, R and Kingsbury, AE and Lashley, TC and Lees, AJ and Revesz, T and Wood, NW and Holton, JL (2009) LRRK2 mRNA and protein expression in Parkinson's disease cases with LRRK2 G2019S mutation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 27 - 28). BLACKWELL PUBLISHING

Sidransky, E and Nalls, MA and Aasly, JO and Aharon-Peretz, J and Annesi, G and Barbosa, ER and Bar-Shira, A and Berg, D and Bras, J and Brice, A and Chen, CM and Clark, LN and Condroyer, C and De Marco, EV and Dürr, A and Eblan, MJ and Fahn, S and Farrer, MJ and Fung, HC and Gan-Or, Z and Gasser, T and Gershoni-Baruch, R and Giladi, N and Griffith, A and Gurevich, T and Januario, C and Kropp, P and Lang, AE and Lee-Chen, GJ and Lesage, S and Marder, K and Mata, IF and Mirelman, A and Mitsui, J and Mizuta, I and Nicoletti, G and Oliveira, C and Ottman, R and Orr-Urtreger, A and Pereira, LV and Quattrone, A and Rogaeva, E and Rolfs, A and Rosenbaum, H and Rozenberg, R and Samii, A and Samaddar, T and Schulte, C and Sharma, M and Singleton, A and Spitz, M and Tan, EK and Tayebi, N and Toda, T and Troiano, AR and Tsuji, S and Wittstock, M and Wolfsberg, TG and Wu, YR and Zabetian, CP and Zhao, Y and Ziegler, SG (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med , 361 (17) 1651 - 1661. 10.1056/NEJMoa0901281.

Silveira Moriyama, L. (2009) Olfaction in Parkinson’s Disease. Doctoral thesis, UCL (University College London).

Silveira-Moriyama, L and Gonzalez, AM and O'Sullivan, SS and Wllliams, DR and Massey, L and Parkkinen, L and Ahmed, Z and de Silva, R and Chacon, JR and Revesz, T and Lees, AJ and Holton, JL (2009) Concomitant progressive supranuclear palsy and multiple system atrophy: More than a simple twist of fate? NEUROSCI LETT , 467 (3) 208 - 211. 10.1016/j.neulet.2009.10.036.

Silveira-Moriyama, L and Holton, JL and Kingsbury, A and Ayling, H and Petrie, A and Sterlacci, W and Poewe, W and Maier, H and Lees, AJ and Revesz, T (2009) Regional differences in the severity of Lewy body pathology across the olfactory cortex. NEUROSCI LETT , 453 (2) 77 - 80. 10.1016/j.neulet.2009.02.006.

Silveira-Moriyama, L and Hughes, G and Church, A and Ayling, H and Williams, DR and Petrie, A and Holton, J and Revesz, T and Kingsbury, A and Morris, HR and Burn, DJ and Lees, AJ (2009) Olfaction in progressive supranuclear palsy (PSP). In: MOVEMENT DISORDERS. (pp. S420 - S421). WILEY-LISS

Silveira-Moriyama, L and Sirisena, D and Gamage, P and Gamage, R and Silva, R and Lees, AJ (2009) Adapting the Sniffin' Sticks to Diagnose Parkinson's Disease in Sri Lanka. MOVEMENT DISORD , 24 (8) 1229 - 1233. 10.1002/mds.22545.

Simon-Sanchez, J and Schulte, C and Bras, JM and Sharma, M and Gibbs, JR and Berg, D and Paisan-Ruiz, C and Lichtner, P and Scholz, SW and Hernandez, DG and Kruger, R and Federoff, M and Klein, C and Goate, A and Perlmutter, J and Bonin, M and Nalls, MA and Illig, T and Gieger, C and Houlden, H and Steffens, M and Okun, MS and Racette, BA and Cookson, MR and Foote, KD and Fernandez, HH and Traynor, BJ and Schreiber, S and Arepalli, S and Zonozi, R and Gwinn, K and van der Brug, M and Lopez, G and Chanock, SJ and Schatzkin, A and Park, Y and Hollenbeck, A and Gao, JJ and Huang, XM and Wood, NW and Lorenz, D and Deuschl, G and Chen, HL and Riess, O and Hardy, JA and Singleton, AB and Gasser, T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. NAT GENET , 41 (12) 1308 - U68. 10.1038/ng.487.

Simons, JP and Al-Shawi, R and Minogue, S and Waugh, MG and Wiedemann, C and Evangelou, S and Loesch, A and Sihra, TS and King, R and Warner, TT and Hsuan, JJ (2009) Loss of phosphatidylinositol 4-kinase 2 alpha activity causes late onset degeneration of spinal cord axons. P NATL ACAD SCI USA , 106 (28) 11535 - 11539. 10.1073/pnas.0903011106.
An open access publication

Sina, F and Shojaee, S and Elahi, E and Paisan-Ruiz, C (2009) R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. EUR J NEUROL , 16 (1) 101 - 104. 10.1111/j.1468-1331.2008.02356.x.

Skoff, SM and Hendricks, RJ and Sinclair, CDJ and Tarbutt, MR and Hudson, JJ and Segal, DM and Sauer, BE and Hinds, EA (2009) Doppler-free laser spectroscopy of buffer-gas-cooled molecular radicals. NEW J PHYS , 11 , Article 123026. 10.1088/1367-2630/11/12/123026.
An open access publication

Sleiman, PMA and Healy, DG and Muqit, MMK and Yang, YX and Van der Brug, M and Holton, JL and Revesz, T and Quinn, NP and Bhatia, K and Diss, JKJ and Lees, AJ and Cookson, MR and Latchman, DS and Wood, NW (2009) Characterisation of a novel NR4A2 mutation in Parkinson's disease brain. NEUROSCI LETT , 457 (2) 75 - 79. 10.1016/j.neulet.2009.03.021.

Smith, BN and Bevan, S and Vance, C and Renwick, P and Wilkinson, P and Proukakis, C and Squitieri, F and Berardelli, A and Warner, TT and Reid, E and Shaw, CE (2009) Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. CLIN GENET , 75 (5) 485 - 489. 10.1111/j.1399-0004.2009.01184.x.

Smyth, A and Murphy, SM and Counihan, T (2009) An unusual cause of cavernous sinus syndrome. [Digital scholarly resource].

Song, YJC and Halliday, GM and Holton, JL and Lashley, T and McCann, H and Revesz, TR (2009) Degeneration in different parkinsonian syndromes relates directly to astrocyte type and astrocyte protein expression. MOVEMENT DISORDERS , 24 S423 - S423.

Song, YJC and Halliday, GM and Holton, JL and Lashley, T and O'Sullivan, SS and McCann, H and Lees, AJ and Ozawa, T and Williams, DR and Lockhart, PJ and Revesz, TR (2009) Degeneration in Different Parkinsonian Syndromes Relates to Astrocyte Type and Astrocyte Protein Expression. J NEUROPATH EXP NEUR , 68 (10) 1073 - 1083.

Song, YJC and Holton, JL and Lashley, T and O'Sullivan, S and McCann, H and Lockhart, PJ and Revesz, T and Halliday, GM (2009) Astrocytic pathology in parkinsonian syndromes. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 27 - 27). BLACKWELL PUBLISHING

Soutar, MP and Thornhill, P and Cole, AR and Sutherland, C (2009) Increased CRMP2 phosphorylation is observed in Alzheimer's disease; does this tell us anything about disease development? Curr Alzheimer Res , 6 (3) 269 - 278.

Stacpoole, SRL and Phadke, R and Jacques, TS and Revesz, T and Plant, GT (2009) Vacuolar myelopathy associated with optic neuropathy in an HIV-negative, immunosuppressed liver transplant recipient. J NEUROL NEUROSUR PS , 80 (5) 581 - 583. 10.1136/jnnp.2008.150292.

Stacpoole, SRL and Phadke, R and Jacques, TS and Revesz, T and Plant, GT (2009) Vacuolar myelopathy associated with optic neuropathy in an HIVnegative, immunosuppressed liver transplant recipient. Journal of Neurology, Neurosurgery and Psychiatry , 80 (5) 583 - 584.

Stewart, JD and Tennant, S and Powell, H and Pyle, A and Blakely, EL and He, L and Hudson, G and Roberts, M and du Plessis, D and Gow, D and Mewasingh, LD and Hanna, MG and Omer, S and Morris, AA and Roxburgh, R and Livingston, JH and McFarland, R and Turnbull, DM and Chinnery, PF and Taylor, RW (2009) Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J MED GENET , 46 (3) 209 - 214. 10.1136/jmg.2008.058180.

Sweeney, M and Woodward, CE and Mudanohwo, EE and Rahman, S and Hanna, MG and Davis, MB (2009) Urine epithelial cells as an alternative to muscle biopsies in the detection of mitochondrial DNA mutations. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). B M J PUBLISHING GROUP

T

Taanman, JW and Daras, M and Albrecht, J and Davie, CA and Mallam, EA and Muddle, JR and Weatherall, M and Warner, TT and Schapira, AHV and Ginsberg, L (2009) Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). NEUROMUSCULAR DISORD , 19 (2) 151 - 154. 10.1016/j.nmd.2008.11.002.

Tain, LS and Chowdhury, RB and Tao, RN and Plun-Favreau, H and Moisoi, N and Martins, LM and Downward, J and Whitworth, AJ and Tapon, N (2009) Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin. CELL DEATH DIFFER , 16 (8) 1118 - 1125. 10.1038/cdd.2009.23.

Tomlinson, SE and Burke, D and Hanna, MG and Bostock, H and Koltzenburg, M (2009) HOW REPRODUCIBLE ARE MULTIPLE NERVE EXCITABILITY PARAMETERS OVER TIME? In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 121 - 121). B M J PUBLISHING GROUP

Tomlinson, SE and Burke, D and Hanna, MG and Koltzenburg, M and Bostock, H (2009) IN VIVO ASSESSMENT OF HCN CHANNEL FUNCTION (IH) IN HUMAN MOTOR AXONS. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 117 - 118). B M J PUBLISHING GROUP

Tomlinson, SE and Burke, D and Howells, J and Trevillion, L and Hanna, MG and Koltzenburg, M and Bostock, H (2009) NOTCH APPEARANCE IN NERVE EXCITABILITY STUDIES: IDENTIFICATION AND IMPORTANCE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 121 - 121). B M J PUBLISHING GROUP

Tomlinson, SE and Hanna, MG and Holton, JL and Rahman, S (2009) A novel POLG1 mutation resulting in severe cachexia and muscle wasting. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 16 - 16). BLACKWELL PUBLISHING

Tomlinson, SE and Hanna, MG and Kullmann, DM and Tan, SV and Burke, D (2009) Clinical neurophysiology of the episodic ataxias: Insights into ion channel dysfunction in vivo. CLIN NEUROPHYSIOL , 120 (10) 1768 - 1776. 10.1016/j.clinph.2009.07.003.

Tomlinson, SE and Tan, SV and Kullmann, DM and Burke, D and Hanna, MG and Bostock, H (2009) AXONAL EXCITABILITY CHANGES IN GENETIC NEURONAL ION CHANNEL DISORDERS. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 144 - 145). WILEY-BLACKWELL PUBLISHING, INC

Tomlinson, SE and Tan, SV and Kullmann, DM and Burke, D and Hanna, MG and Bostock, H (2009) Nerve Excitability Measurements Can Distingush Genetic Channelopathies in the Episodic Ataxias. In: NEUROLOGY. (pp. A266 - A266). LIPPINCOTT WILLIAMS & WILKINS

Trender-Gerhard, I and Sweeney, MG and Schwingenschuh, P and Mir, P and Edwards, MJ and Gerhard, A and Polke, JM and Hanna, MG and Davis, MB and Wood, NW and Bhatia, KP (2009) Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J NEUROL NEUROSUR PS , 80 (8) 839 - 845. 10.1136/jnnp.2008.155861.

U

Ule, J (2009) High-throughput sequencing methods to study neuronal RNA-protein interactions. Biochem Soc Trans , 37 1278 - 1280. 10.1042/BST0371278.

V

Vandrovcova, J and Pittman, AM and Malzer, E and Abou-Sleiman, PM and Lees, AJ and Wood, NW and de Silva, R (2009) Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. NEUROBIOL AGING , 30 (9) 1477 - 1482. 10.1016/j.neurobiolaging.2007.11.019.

W

Warner, TT (2009) The genetics and pathogenesis of dystonia. In: Schapira, AHV and Lang, AE and Fahn, S, (eds.) Movement Disorders 4. (457 - 473). Elsevier: Philadelphia.

Warner, TT (2009) Cerebrovascular Disease. In: Warner, TT and Hammans, SR, (eds.) Practical Guide to Neurogenetics. (137 - 149). Saunders Elsevier: Philadelphia.

Warner, TT (2009) Dementia. In: Warner, TT and Hammans, SR, (eds.) Practical guide to neurogenetics. (24 - 37). Saunders Elsevier: Philadelphia.

Warner, TT (2009) DNA, Genes and mutations. In: Warner, TT and Hammans, SR, (eds.) Practical Guide to Neurogenetics. (1 - 10). Saunders Elsevier: Philadelphia.

Warner, TT (2009) Motor Neuron Diseases. In: Warner, TT and Hammans, SR, (eds.) Practical Guide to Neurogenetics. (150 - 174). Saunders Elsevier: Philadelphia.

Warner, TT (2009) Movement Disorders. In: Warner, TT and Hammans, SR, (eds.) Practical Guide to Neurogenetics. (102 - 136). Saunders Elsevier: Philadelphia.

Warr, TJ and Karakoula, K and Phipps, K and Harkness, W and Hayward, R and Thompson, D and Jacques, T and Thomas, DGT (2009) EPIGENETIC SILENCING OF GENE EXPRESSION IN PEDIATRIC INTRACRANIAL EPENDYMOMA. In: NEURO-ONCOLOGY. (pp. 611 - 611). DUKE UNIV PRESS

Webster, JA and Gibbs, JR and Clarke, J and Ray, M and Zhang, WX and Holmans, P and Rohrer, K and Zhao, A and Marlowe, L and Kaleem, M and McCorquodale, DS and Cuello, C and Leung, D and Bryden, L and Nath, P and Zismann, VL and Joshipura, K and Huentelman, MJ and Hu-Lince, D and Coon, KD and Craig, DW and Pearson, JV and Heward, CB and Reiman, EM and Stephan, D and Hardy, J and Myers, AJ and NACC-Neuropathol Grp, (2009) Genetic Control of Human Brain Transcript Expression in Alzheimer Disease. AM J HUM GENET , 84 (4) 445 - 458. 10.1016/j.ajhg.2009.03.011.

Wedderburn, LR and Varsani, H and Wittkowski, H and Roth, J and Holton, JL (2009) Myeloid cells which secrete S100 proteins in juvenile dermatomyositis may contribute to disease activity. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 6 - 6). BLACKWELL PUBLISHING

Wickremaratchi, MM and Majounie, E and Morris, HR and Williams, NM and Lewis, H and Gill, SS and Khan, S and Heywood, P and Hardy, J and Wiles, CM and Singleton, AB and Quinn, NP (2009) Parkin-related Disease Clinically Diagnosed as a Pallido-Pyramidal Syndrome. MOVEMENT DISORD , 24 (1) 138 - 140. 10.1002/mds.22181.

Wijesekera, LC and Mathers, S and Talman, P and Galtrey, C and Parkinson, MH and Ganesalingam, J and Willey, E and Ampong, MA and Ellis, CM and Shaw, CE and Al-Chalabi, A and Leigh, PN (2009) Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology , 72 (12) 1087 - 1094. 10.1212/01.wnl.0000345041.83406.a2.

Wood, N (2009) Cerebellar ataxias and related conditions. In: Clarke, C and Howard, R and Rossor, M and Shorvon, S, (eds.) Neurology: a Queen Square textbook. (629 - 643). Wiley-Blackwell: Chichester.

Wood-Kaczmar, A and Gandhi, S and Yao, Z and Abramov, AY and Miljan, EA and Keen, G and Stanyer, L and Hargreaves, I and Klupsch, K and Downward, J and Mansfield, L and Jat, P and Taylor, J and Heales, S and Duchen, MR and Latchman, D and Tabrizi, SJ and Wood, NW (2009) PINK1 is necessary for long term survival and mitochondrial function in primary human dopaminergic neurons. In: JOURNAL OF NEUROCHEMISTRY. (pp. 301 - 302). WILEY-BLACKWELL PUBLISHING, INC

Wray, S and Noble, W (2009) Linking Amyloid and Tau Pathology in Alzheimer's Disease: The Role of Membrane Cholesterol in A beta-Mediated Tau Toxicity. J NEUROSCI , 29 (31) 9665 - 9667. 10.1523/JNEUROSCI.2234-09.2009.

Y

Yang, YX and Wood, NW and Latchman, DS (2009) Molecular basis of Parkinson's disease. NEUROREPORT , 20 (2) 150 - 156. 10.1097/WNR.0b013e32831c50df.

Yao, Z and Bandopadhyay, R and Muqit, MMK and Holton, JL and Wood, NW (2009) Putative LRRK2 (PARK8) substrates: ERM proteins are present in Lewy bodies and are up-regulated in Parkinson's disease brains. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 28 - 28). BLACKWELL PUBLISHING

Yao, Z and Klupsh, K and Hargreaves, I and Downward, J and Heales, S and Revesz, T and Holton, J and Wood, NW (2009) Characterisation of PINK1 knockout mice. In: JOURNAL OF NEUROCHEMISTRY. (pp. 300 - 300). WILEY-BLACKWELL PUBLISHING, INC

Yao, Z and Wood, NW (2009) Cell Death Pathways in Parkinson's Disease: Role of Mitochondria. ANTIOXID REDOX SIGN , 11 (9) 2135 - 2149. 10.1089/ars.2009.2624.

This list was generated on Wed Jun 19 06:43:25 2013 BST.