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Number of items: 248.

A

Abramov, AY and Duchen, MR (2010) Impaired mitochondrial bioenergetics determines glutamate-induced delayed calcium deregulation in neurons. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS , 1800 (3) 297 - 304. 10.1016/j.bbagen.2009.08.002.

Abramov, AY and Smulders-Srinivasan, TK and Kirby, DM and Acin-Perez, R and Enriquez, JA and Lightowlers, RN and Duchen, MR and Turnbull, DM (2010) Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. BRAIN , 133 797 - 807. 10.1093/brain/awq015.

Aggarwal, A and Schneider, SA and Houlden, H and Silverdale, M and Paudel, R and Paisan-Ruiz, C and Desai, S and Munshi, M and Sanghvi, D and Hardy, J and Bhatia, KP and Bhatt, M (2010) Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms. MOVEMENT DISORD , 25 (10) 1424 - 1431. 10.1002/mds.23095.

Ahluwalia, J and Tinker, A and Clapp, LH and Duchen, MR and Abramov, AY and Pope, S and Nobles, M and Segal, AW (2010) The large-conductance Ca2+-activated K+ channel is essential for innate immunity (Retraction of vol 427, pg 853, 2004). NATURE , 468 (7320) 122 - 122. 10.1038/nature09562.

Ahmed, M and Miller, AD and Hanna, MG and Greensmith, L (2010) Heat shock protein induction as a therapeutic strategy for inclusion body myositis. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27). PERGAMON-ELSEVIER SCIENCE LTD

Ahmed, Z and Asi, YT and Lees, AJ and Revesz, T and Holton, JL (2010) Oligodendrocyte precursor cells do not contain pathological inclusions in multiple system atrophy or progressive supranuclear palsy. In: BRAIN PATHOLOGY. (pp. 28 - 29). WILEY-BLACKWELL PUBLISHING, INC

Ahmed, Z and Tabrizi, S and Li, A and Houlden, H and Sailer, A and Lees, AJ and Revesz, T and Holton, JL (2010) A case of Huntington's disease phenocopy characterised by pallido-nigro-luysian degeneration with brain-iron accumulation and p62-positive glial inclusions. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 379 - 379). WILEY-BLACKWELL

Ahmed, Z and Tabrizi, SJ and Li, A and Houlden, H and Sailer, A and Lees, AJ and Revesz, T and Holton, JL (2010) A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions. NEUROPATH APPL NEURO , 36 (6) 551 - 557. 10.1111/j.1365-2990.2010.01093.x.

Ali, N and Woodward, CE and Sweeney, M and Phadke, R and Holton, JL and Acheson, J and Plant, GT and Bremner, FD (2010) Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates. J Neuroophthalmol , 30 (2) 153 - 156. 10.1097/WNO.0b013e3181dbfdcd.

Alonso-Canovas, A and Katschnig, P and Tucci, A and Carecchio, M and Wood, NW and Edwards, M and Castrillo, JCM and Burke, D and Heales, S and Bhatia, KP (2010) Atypical Parkinsonism with Apraxia and Supranuclear Gaze Abnormalities in Type 1 Gaucher Disease. Expanding the Spectrum: Case Report and Literature Review. MOVEMENT DISORD , 25 (10) 1506 - 1509. 10.1002/mds.23109.

Anaya, FJ and Vandrovcova, J and Lees, A and de Silva, R (2010) Investigation of the role of tau gene transcriptional regulation in neurodegeneration. In: MOVEMENT DISORDERS. (pp. S200 - S201). WILEY-LISS

Antonarakis, SE and Chakravarti, A and Cohen, JC and Hardy, J (2010) Mendelian disorders and multifactorial traits: the big divide or one for all? NAT REV GENET , 11 (5) 380 - 384. 10.1038/nrg2793.

B

Bandopadhyay, R and de Belleroche, J (2010) Pathogenesis of Parkinson's disease: emerging role of molecular chaperones. TRENDS MOL MED , 16 (1) 27 - 36. 10.1016/j.molmed.2009.11.004.

Bandopadhyay, R and Phan, B and Mamais, A and Lashley, T and Lees, A (2010) Validation of 4E-BP1 as a Putative LRRK2 Substrate: In Vivo Evidence. In: MOVEMENT DISORD. (pp. S629 - S629). WILEY-LISS

Beck, JA and Poulter, M and Campbell, TA and Adamson, G and Uphill, JB and Guerreiro, R and Jackson, GS and Stevens, JC and Manji, H and Collinge, J and Mead, S (2010) PRNP Allelic Series From 19 Years of Prion Protein Gene Sequencing at the MRC Prion Unit. HUM MUTAT , 31 (7) E1551 - E1563. 10.1002/humu.21281.

Bettencourt, C (2010) Machado-Joseph Disease: From Genetic Variability to Clinical Heterogeneity. Doctoral thesis, UNSPECIFIED.

Bettencourt, C and Santos, C and Montiel, R and Do Carmo Costa, M and Cruz-Morales, P and Santos, LR and Simões, N and Kay, T and Vasconcelos, J and Maciel, P and Lima, M (2010) Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics , 11 (2) 193 - 202.

Bettencourt, C and Santos, C and Montiel, R and Kay, T and Vasconcelos, J and MacIel, P and Lima, M (2010) The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls. European Journal of Human Genetics , 18 (5) 621 - 623.

Bishop, MW and Chakraborty, S and Matthews, GAC and Dougalis, A and Wood, NW and Festenstein, R and Ungless, MA (2010) Hyperexcitable Substantia Nigra Dopamine Neurons in PINK1- and HtrA2/Omi-Deficient Mice. J NEUROPHYSIOL , 104 (6) 3009 - 3020. 10.1152/jn.00466.2010.

Brosens, JJ and Hodgetts, A and Feroze-Zaidi, F and Sherwin, JRA and Fusi, L and Salker, MS and Higham, J and Rose, GL and Kajihara, T and Young, SL and Lessey, BA and Henriet, P and Langford, PR and Fazleabas, AT (2010) Proteomic analysis of endometrium from fertile and infertile patients suggests a role for apolipoprotein A-I in embryo implantation failure and endometriosis. MOL HUM REPROD , 16 (4) 273 - 285. 10.1093/molehr/gap108.

Burchell, VS and Gandhi, S and Deas, E and Wood, NW and Abramov, AY and Plun-Favreau, H (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. EXPERT OPIN THER TAR , 14 (4) 369 - 385. 10.1517/14728221003652489.

Burchell, VS and Gandhi, S and Deas, E and Wood, NW and Abramov, AY and Plun-Favreau, H (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. EXPERT OPIN THER TAR , 14 (5) 497 - 511. 10.1517/14728221003730434.

C

Compta, Y and Parkkinen, L and Vandrovcova, J and O'Sullivan, S and Holton, J and de Silva, R and Lashley, T and Kallis, C and Lees, A and Revesz, T (2010) Lewy-and Alzheimer-type pathologies in Parkinson's disease with dementia: A comprehensive brain-bank study. In: MOVEMENT DISORDERS. (pp. S317 - S317). WILEY-LISS

Corneveaux, JJ and Myers, AJ and Allen, AN and Pruzin, JJ and Ramirez, M and Engel, A and Nalls, MA and Chen, K and Lee, W and Chewning, K and Villa, SE and Meechoovet, HB and Gerber, JD and Frost, D and Benson, HL and O'Reilly, S and Chibnik, LB and Shulman, JM and Singleton, AB and Craig, DW and Van Keuren-Jensen, KR and Dunckley, T and Bennett, DA and de Jager, PL and Heward, C and Hardy, J and Reiman, EM and Huentelman, MJ (2010) Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Human Molecular Genetics , 19 (16) 3295 - 3301.

Corneveaux, JJ and Myers, AJ and Allen, AN and Pruzin, JJ and Ramirez, M and Engel, A and Nalls, MA and Chen, KW and Lee, W and Chewning, K and Villa, SE and Meechoovet, HB and Gerber, JD and Frost, D and Benson, HL and O'Reilly, S and Chibnik, LB and Shulman, JM and Singleton, AB and Craig, DW and Van Keuren-Jensen, KR and Dunckley, T and Bennett, DA and De Jager, PL and Heward, C and Hardy, J and Reiman, EM and Huentelman, MJ (2010) Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. HUM MOL GENET , 19 (16) 3295 - 3301. 10.1093/hmg/ddq221.

Crowther-Swanepoel, D and Broderick, P and Ma, Y and Robertson, L and Pittman, AM and Price, A and Twiss, P and Vijayakrishnan, J and Qureshi, M and Dyer, MJ and Matutes, E and Dearden, C and Catovsky, D and Houlston, RS (2010) Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus. Hum Mol Genet , 19 (9) 1840 - 1845. 10.1093/hmg/ddq044.

D

Dale, RC and Melchers, A and Fung, VSC and Grattan-Smith, P and Houlden, H and Earl, J (2010) Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. DEV MED CHILD NEUROL , 52 (6) 583 - 586. 10.1111/j.1469-8749.2010.03619.x.

Davendralingam, N and Davagnanam, I and Djamshidian, A and Lees, A (2010) Picture Quiz Progressive dysphagia, dysarthria, dystonia, and tremor. BRIT MED J , 340 , Article c1213. 10.1136/bmj.c1213.

Davendralingam, N and Davagnanam, I and Djamshidian, A and Lees, A (2010) Progressive dysphagia, dysarthria, dystonia, and tremor. BMJ , 340 c1213 - ?.

Davidson, G and Murphy, SM and Polke, JM and Davis, MB and Reilly, M and Houlden, H and MRC Ctr Neuromuscular Dis, (2010) Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Deas, E and Dunn, L (2010) Unraveling LRRK2 Pathogenesis: Common Pathways for Complex Genes? J NEUROSCI , 30 (5) 1577 - 1579. 10.1523/JNEUROSCI.5531-09.2010.

Dewar, L and Matthews, E and Bahlke, G and Hanna, MG (2010) Quantification of grip myotonia using a novel accelerometer device: a pilot study. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Dhir, S and Pacurar, M and Franklin, D and Gaspari, Z and Kertesz-Farkas, A and Kocsor, A and Eisenhaber, F and Pongor, S (2010) Detecting Atypical Examples of Known Domain Types by Sequence Similarity Searching: The SBASE Domain Library Approach. CURR PROTEIN PEPT SC , 11 (7) 538 - 549.

Dick, KJ and Eckhardt, M and Paisan-Ruiz, C and Alshehhi, AA and Proukakis, C and Sibtain, NA and Maier, H and Sharifi, R and Patton, MA and Bashir, W and Koul, R and Raeburn, S and Gieselmann, V and Houlden, H and Crosby, AH (2010) Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35). HUM MUTAT , 31 (4) E1251 - E1260. 10.1002/humu.21205.

Djamshidian, A and Jha, A and O'Sullivan, S and Silvera-Moriyama, L and Jacobsen, C and Brown, P and Lees, A and Averbeck, B (2010) Risk and learning in impulsive and non-impulsive patients with Parkinson's disease. In: MOVEMENT DISORDERS. (pp. S279 - S279). WILEY-LISS

Djamshidian, A and Jha, A and O'Sullivan, SS and Silveira-Moriyama, L and Jacobson, C and Brown, P and Lees, A and Averbeck, BB (2010) Risk and Learning in Impulsive and Nonimpulsive Patients With Parkinson's Disease. MOVEMENT DISORD , 25 (13) 2203 - 2210. 10.1002/mds.23247.

Doherty, K and Silveira-Moriyama, L and Ahmed, Z and Revesz, T and Holton, J and Lees, A (2010) A Clinicopathological Study of a Case of Parkinson's Disease. In: MOVEMENT DISORD. (pp. S640 - S641). WILEY-LISS

Doherty, KM and Ahmed, Z and Silveira-Moriyama, L and O'Sullivan, SS and Wroe, S and Holton, JL and Lees, AJ and Revesz, T (2010) Progressive supranuclear palsy (PSP) with prominent corticospinal tract degeneration in motor neuron disease (MND). In: MOVEMENT DISORDERS. (pp. S497 - S497). WILEY-LISS

Doherty, KMC and Ahmed, Z and Revesz, T and Holton, JL and Lees, AJ (2010) A clinicopathological study of a case of parkin disease. In: MOVEMENT DISORDERS. (pp. S471 - S471). WILEY-LISS

Doherty, KMC and Ling, H and Mulroy, E and Foung-Tai, Y and Djamshidian, A and Silveria-Moriyama, L and Massey, L and Brew, S and Lees, AJ (2010) A CASE OF CENTRAL AND PERIPHERAL VESTIBULAR VESTIBULAR FAILURE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. E36 - E37). B M J PUBLISHING GROUP

Dressler, D and Warner, T (2010) Dystonia Europe: Hamburg 2008. European Journal of Neurology , 17 (SUPPL. 1)

Dressler, D and Warner, T (2010) Dystonia Europe: Hamburg 2008 FOREWORD. EUROPEAN JOURNAL OF NEUROLOGY , 17 V - V. 10.1111/j.1468-1331.2010.03062.x.

Duff, K and Paulsen, J and Mills, J and Beglinger, LJ and Moser, DJ and Smith, MM and Langbehn, D and Stout, J and Queller, S and Harrington, DL and Investigators, PREDICT-HD (2010) Mild cognitive impairment in prediagnosed Huntington disease. NEUROLOGY , 75 (6) 500 - 507.

E

Eerola, J and Luoma, PT and Peuralinna, T and Scholz, S and Paisan-Ruiz, C and Suomalainen, A and Singleton, AB and Tienari, PJ (2010) POLG1 polyglutamine tract variants associated with Parkinson's disease. NEUROSCI LETT , 477 (1) 1 - 5. 10.1016/j.neulet.2010.04.021.

Evans, J and Revesz, T and Barker, RA (2010) Non-Dopamine Lesions in Parkinson's Disease. In: Halliday, G and PhD, and Barker, R and MRCP, and Rowe, D and Fracp,, (eds.) Non-Dopamine Lesions in Parkinson's Disease. (? - ?). Oxford Univ Pr

F

Ferrari, R and Kapogiannis, D and Huey, ED and Grafman, J and Hardy, J and Momeni, P (2010) Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia. ALZ DIS ASSOC DIS , 24 (4) 397 - 401. 10.1097/WAD.0b013e3181df20c7.

Finegold, J and Giunti, P and Mckenna, W and Elliott, P and Pantazis, A (2010) Description of the cardiomyopathy associated with friedreich's ataxia. In: EUROPEAN HEART JOURNAL. (pp. 37 - 37). OXFORD UNIV PRESS

Fonteyn, EMR and Schmitz-Hubsch, T and Verstappen, CC and Baliko, L and Bloem, BR and Boesch, S and Bunn, L and Charles, P and Durr, A and Filla, A and Giunti, P and Globas, C and Klockgether, T and Melegh, B and Pandolfo, M and De Rosa, A and Schols, L and Timmann, D and Munneke, M and Kremer, BPH and van de Warrenburg, BPC (2010) Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study. CEREBELLUM , 9 (2) 232 - 239. 10.1007/s12311-010-0155-z.

Fratter, C and Gorman, GS 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 Czermin, B and Lecky, B and Blakely, EL and Craig, K and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY , 74 (20) 1619 - 1626.

Fratter, C and Gorman, GS 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 Czermin, B and Lecky, B and Blakely, EL and Craig, K and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology , 74 (20) 1619 - 1626.

G

Gandhi, S and Wood, NW (2010) Genome-wide association studies: the key to unlocking neurodegeneration? NAT NEUROSCI , 13 (7) 789 - 794. 10.1038/nn.2584.

Garcia, IL and Darquie, B and Curtis, EA and Sinclair, CDJ and Hinds, EA (2010) Experiments on a videotape atom chip: fragmentation and transport studies. NEW J PHYS , 12 , Article 093017. 10.1088/1367-2630/12/9/093017.
An open access publication

Gaspari, Z and Angyan, AF and Dhir, S and Franklin, D and Perczel, A and Pintar, A and Pongor, S (2010) Probing Dynamic Protein Ensembles with Atomic Proximity Measures. CURR PROTEIN PEPT SC , 11 (7) 515 - 522.

Ghiso, J and Tomidokoro, Y and Revesz, T and Frangione, B and Rostagno, A (2010) Cerebral amyloid angiopathy and alzheimer's disease. Hirosaki Medical Journal , 61 (SUPPL.) S111 - S124.

Granata, A and Warner, TT (2010) The role of torsinA in dystonia. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 81 - 87). WILEY-BLACKWELL PUBLISHING, INC

Granata A, WTT (2010) The role of TorsinA in dystonia. Eur J Neurol , 17 (Suppl.1) 81 - 87.

Graves, T and Phadke, R and Holton, JL and Hanna, MG and Rahman, S and Bhardwaj, N (2010) ELECTRON MICROSCOPY DOES NOT ADD TO THE DIAGNOSTIC ACCURACY OF MUSCLE BIOPSY FOR SUSPECTED MITOCHONDRIAL DISEASE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. E65 - E65). B M J PUBLISHING GROUP

Graves, TD and Rajakulendran, S and Zuberi, SM and Morris, HR and Schorge, S and Hanna, MG and Kullmann, DM (2010) Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. NEUROLOGY , 75 (4) 367 - 372. 10.1212/WNL.0b013e3181ea9ee3.

Green, P and Wiseman, M and Crow, YJ and Houlden, H and Riphagen, S and Lin, JP and Raymond, FL and Childs, AM and Sheridan, E and Edwards, S and Josifova, DJ (2010) Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. AM J HUM GENET , 86 (3) 485 - 489. 10.1016/j.ajhg.2010.02.006.

Guerreiro, RJ and Baquero, M and Blesa, R and Boada, M and Bras, JM and Bullido, MJ and Calado, A and Crook, R and Ferreira, C and Frank, A and Gomez-Isla, T and Hernandez, I and Lleo, A and Machado, A and Martinez-Lage, P and Masdeu, J and Molina-Porcel, L and Molinuevo, JL and Pastor, P and Perez-Tur, J and Relvas, R and Oliveira, CR and Ribeiro, MH and Rogaeva, E and Sa, A and Samaranch, L and Sanchez-Valle, R and Santana, I and Tarraga, L and Valdivieso, F and Singleton, A and Hardy, J and Clarimon, J (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. NEUROBIOL AGING , 31 (5) 725 - 731. 10.1016/j.neurobiolaging.2008.06.012.

Guerreiro, RJ and Beck, J and Gibbs, JR and Santana, I and Rossor, MN and Schott, JM and Nalls, MA and Ribeiro, H and Santiago, B and Fox, NC and Oliveira, C and Collinge, J and Mead, S and Singleton, A and Hardy, J (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510.
An open access publication. A version is also available from UCL Discovery.
 file

Guerreiro, RJ and Washecka, N and Hardy, J and Singleton, A (2010) A Thorough Assessment of Benign Genetic Variability in GRN and MAPT. HUM MUTAT , 31 (2) E1126 - E1140. 10.1002/humu.21152.

H

Hampel, H and Frank, R and Broich, K and Teipel, SJ and Katz, RG and Hardy, J and Herholz, K and Bokde, ALW and Jessen, F and Hoessler, YC and Sanhai, WR and Zetterberg, H and Woodcock, J and Blennow, K (2010) Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. NAT REV DRUG DISCOV , 9 (7) 560 - 574. 10.1038/nrd3115.

Hanger, DP and Wray, S (2010) Tau cleavage and tau aggregation in neurodegenerative disease. Biochem Soc Trans , 38 (4) 1016 - 1020. 10.1042/BST0381016.

Hardy, J (2010) Genetic Analysis of Pathways to Parkinson Disease. NEURON , 68 (2) 201 - 206. 10.1016/j.neuron.2010.10.014.
An open access publication

Hardy, J (2010) Genetics of tauopathies. In: EUROPEAN NEUROPSYCHOPHARMACOLOGY. (pp. S163 - S163). ELSEVIER SCIENCE BV

Hardy, J (2010) Neurological Diagnoses Identify Molecular Processes. ARCH NEUROL-CHICAGO , 67 (4) 400 - 401.

Hardy, J (2010) Sample Tracking and Use in Published Genome-wide Association Studies. ARCH NEUROL-CHICAGO , 67 (10) 1267 - 1268.

Hardy, J (2010) The genetics of parkinsonisms. In: JOURNAL OF NEUROLOGY. (pp. S8 - S8). SPRINGER HEIDELBERG

Hardy, J (2010) Whole Genome Analysis of Neurodegenerative Disease. In: CELL TRANSPLANTATION. (pp. 342 - 342). COGNIZANT COMMUNICATION CORP

Hardy, J and Gwinn, K (2010) Protected to Death. J ALZHEIMERS DIS , 20 (2) 409 - 413. 10.3233/JAD-2010-1416.

Hardy, J and Williams, J (2010) Identification of Alzheimer Risk Factors Through Whole-Genome Analysis. ARCH NEUROL-CHICAGO , 67 (6) 663 - 664.

Heinzen, EL and Radtke, RA and Urban, TJ and Cavalleri, GL and Depondt, C and Need, AC and Walley, NM and Nicoletti, P and Ge, DL and Catarino, CB and Duncan, JS and Kasperaviciute, D and Tate, SK and Caboclo, LO and Sander, JW and Clayton, L and Linney, KN and Shianna, KV and Gumbs, CE and Smith, J and Cronin, KD and Maia, JM and Doherty, CP and Pandolfo, M and Leppert, D and Middleton, LT and Gibson, RA and Johnson, MR and Matthews, PM and Hosford, D and Kalviainen, R and Eriksson, K and Kantanen, AM and Dorn, T and Hansen, J and Kramer, G and Steinhoff, BJ and Wieser, HG and Zumsteg, D and Ortega, M and Wood, NW and Huxley-Jones, J and Mikati, M and Gallentine, WB and Husain, AM and Buckley, PG and Stallings, RL and Podgoreanu, MV and Delanty, N and Sisodiya, SM and Goldstein, DB (2010) Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes. The American Journal of Human Genetics , 86 (5) 707 - 718. 10.1016/j.ajhg.2010.03.018.
An open access publication

Hilton-Jones, D and Miller, A and Parton, M and Holton, J and Sewry, C and Hanna, MG (2010) Inclusion body myositis. MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. Neuromuscular Disorders , 20 (2) 142 - 147.

Houlden, H and Schneider, SA and Paudel, R and Melchers, A and Schwingenschuh, P and Edwards, M and Hardy, J and Bhatia, KP (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. NEUROLOGY , 74 (10) 846 - 850.

Houlston, RS and Cheadle, J and Dobbins, SE and Tenesa, A and Jones, AM and Howarth, K and Spain, SL and Broderick, P and Domingo, E and Farrington, S and Prendergast, JG and Pittman, AM and Theodoratou, E and Smith, CG and Olver, B and Walther, A and Barnetson, RA and Churchman, M and Jaeger, EE and Penegar, S and Barclay, E and Martin, L and Gorman, M and Mager, R and Johnstone, E and Midgley, R and Niittymäki, I and Tuupanen, S and Colley, J and Idziaszczyk, S and COGENT Consortium, and Thomas, HJ and Lucassen, AM and Evans, DG and Maher, ER and CORGI Consortium, and COIN Collaborative Group, and COINB Collaborative Group, and Maughan, T and Dimas, A and Dermitzakis, E and Cazier, JB and Aaltonen, LA and Pharoah, P and Kerr, DJ and Carvajal-Carmona, LG and Campbell, H and Dunlop, MG and Tomlinson, IP (2010) Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet , 42 (11) 973 - 977. 10.1038/ng.670.

Hussain, AA and Starita, C and Hodgetts, A and Marshall, J (2010) Macromolecular diffusion characteristics of ageing human Bruch's membrane: Implications for age-related macular degeneration (AMD). EXP EYE RES , 90 (6) 703 - 710. 10.1016/j.exer.2010.02.013.

Hutton, EJ and Carty, L and Laura, M and Houlden, H and Lunn, MP and Brandner, S and Mirsky, R and Jessen, K and Reilly, MM (2010) C-Jun expression in human neuropathies: a pilot study. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

I

Igosheva, N and Abramov, AY and Poston, L and Eckert, JJ and Fleming, TP and Duchen, MR and McConnell, J (2010) Maternal Diet-Induced Obesity Alters Mitochondrial Activity and Redox Status in Mouse Oocytes and Zygotes. PLOS ONE , 5 (4) , Article e10074. 10.1371/journal.pone.0010074.
An open access publication. A version is also available from UCL Discovery.
 file

Innes, A and Kalmar, B and Houlden, H and Reilly, MM and Greensmith, L (2010) Characterisation of novel mutations within HSP27 causing Charcot-Marie-Tooth disease 2F and distal hereditary motor neuropathy II. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S22). PERGAMON-ELSEVIER SCIENCE LTD

International Stroke Genetics Consortium, and Wellcome Trust Case-Control Consortium 2, (2010) Failure to validate association between 12p13 variants and ischemic stroke. N Engl J Med , 362 (16) 1547 - 1550. 10.1056/NEJMc0910050.

J

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This list was generated on Wed Jun 19 06:43:08 2013 BST.