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Number of items: 110.

A

Abbas, N and Lucking, CB and Ricard, S and Durr, A and Bonifati, V and De Michele, G and Bouley, S and Vaughan, JR and Gasser, T and Marconi, R and Broussolle, E and Brefel-Courbon, C and Harhangi, BS and Oostra, AB and Fabrizio, E and Bohme, GA and Pradier, L and Wood, NW and Filla, A and Meco, G and Denefle, P and Agid, Y and Brice, A and French Parkinson's Dis Genetics Study Grp, and European Consortium Genetic Susceptibility Park, (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. HUM MOL GENET , 8 (4) 567 - 574.

An, SF and Groves, M and Giometto, B and Beckett, AAJ and Scaravilli, F (1999) Detection and localisation of HIV-1 DNA and RNA in fixed adult AIDS brain by polymerase chain reaction/in situ hybridisation technique. ACTA NEUROPATHOL , 98 (5) 481 - 487.

An, SF and Groves, M and Gray, F and Scaravilli, F (1999) Early entry and widespread cellular involvement of HIV-1 DNA in brains of HIV-1 positive asymptomatic individuals. J NEUROPATH EXP NEUR , 58 (11) 1156 - 1162.

Andreu, AL and Hanna, MG and Reichmann, H and Bruno, C and Penn, AS and Tanji, K and Pallotti, F and Iwata, S and Bonilla, E and Lach, B and Morgan-Hughes, J and DiMauro, S (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. NEW ENGL J MED , 341 (14) 1037 - 1044.

Andreu, AL and Hanna, MG and Reichmann, H and Bruno, C and Penn, AS and Tanji, K and Pallotti, F and Iwata, S and Bonilla, E and Lach, B and Morgan-Hughes, J and DiMauro, S (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New England Journal of Medicine , 341 (14) 1037 - 1044.

Andrews, TC and Weeks, RA and Turjanski, N and Gunn, RN and Watkins, LHA and Sahakian, B and Hodges, JR and Rosser, AE and Wood, NW and Brooks, DJ (1999) Huntington's disease progression PET and clinical observations. BRAIN , 122 2353 - 2363.

B

Baker, M and Litvan, I and Houlden, H and Adamson, J and Dickson, D and Perez-Tur, J and Hardy, J and Lynch, T and Bigio, E and Hutton, M (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. HUM MOL GENET , 8 (4) 711 - 715.

Bandmann, O and Vaughan, J and Holmans, PA and Marsden, CD and Wood, NW (1999) Toxins, genetics, and Parkinson's disease: the role of N-acetyltransferase 2. In: UNSPECIFIED (199 - 204).

Brett, M and Persey, MR and Reilly, MM and Revesz, T and Booth, DR and Booth, SE and Hawkins, PN and Pepys, MB and Morgan-Hughes, JA (1999) Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. BRAIN , 122 183 - 190.

Burton, BJL and Burdon, MA and Holton, JL and Thom, M and Plant, GT (1999) Fibrous dysplasia of the sphenoid associated with visual loss and optic disc oedema. NEURO-OPHTHALMOLOGY , 21 (4) 241 - 248.

C

Chalmers, RM and Andreae, L and Wood, NW and Raj, RVKD and Casey, ATH (1999) Familial hydrocephalus. J NEUROL NEUROSUR PS , 67 (3) 410 - 411.

Clark, KM and Taylor, RW and Johnson, MA and Chinnery, PF and Chrzanowska-Lightowlers, ZMA and Andrews, RM and Nelson, IP and Wood, NW and Lamont, PJ and Hanna, MG and Lightowlers, RN and Turnbull, DM (1999) An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 64 (5) 1330 - 1339. 10.1086/302361.

D

Davies, NP and Hanna, MG (1999) Neurological channelopathies: diagnosis and therapy in the new millennium. ANN MED , 31 (6) 406 - 420.

De Jonghe, C and Cruts, M and Rogaeva, EA and Tysoe, C and Singleton, A and Vanderstichele, H and Meschino, W and Dermaut, D and Vanderhoeven, I and Backhovens, H and Vanmechelen, E and Morris, CM and Hardy, J and Rubinsztein, DC and St George-Hyslop, PH and Van Broeckhoven, C (1999) Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A beta 42 secretion. HUMAN MOLECULAR GENETICS , 8 (8) 1529 - 1540. 10.1093/hmg/8.8.1529.

Dickson, DW and Liu, WK and Hardy, J and Farrer, M and Mehta, N and Uitti, R and Mark, M and Zimmerman, T and Golbe, L and Sage, J and Sima, A and D'Amato, C and Albin, R and Gilman, S and Yen, SH (1999) Widespread alterations of alpha-synuclein in multiple system atrophy. AMERICAN JOURNAL OF PATHOLOGY , 155 (4) 1241 - 1251. 10.1016/S0002-9440(10)65226-1.

Dixon, PH and Stinton, VJ and Humphray, SJ and Hammond, S and Howard, PJ and Dunham, I and Wood, N and Davis, MB (1999) Physical and EST mapping on chromosome 9: Candidate Genes for the geniospasm (GSM1) locus. The American Journal of Human Genetics , 65 1241 - ?.

Dixon, PH and Stinton, VJ and Humphray, SJ and Hammond, S and Howard, PJ and Dunham, I and Wood, N and Davis, MB (1999) Physical and EST mapping on chromosome 9: Candidate Genes for the geniospasm (GSM1) locus. AM J HUM GENET , 65 (4) A224 - A224.

E

Elliott, PM and Hanna, MG and Ward, SA and Chinnery, PF and Turnbull, DM and Wood, NW and McKenna, WJ (1999) Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease. HEART , 81 (4) 441 - 443.

Eunson, L and Davies, NP and Davis, MB and Gregory, RP and Mills, KR and Morrison, PJ and Hanna, MG (1999) Genetic diagnosis of paramyotonia congenita - exon 24 of the skeletal muscle sodium channel (SCN4A) gene is a hot spot for mutations. J MED GENET , 36 S63 - S63.

Eunson, LH and Davis, MB and Wood, NW and Hanna, MG (1999) The national DNA-based diagnostic service for periodic paralyses. J MED GENET , 36 S63 - S63.

Eunson, LH and Jouvenceau, A and Ramesh, V and Zuberi, SM and Nairne, A and Hyman, N and Wood, NW and Spauschus, A and Kullmann, DM and Hanna, MG (1999) New mutations in the voltage-gated calcium channel gene CACNA1A in british families with episodic ataxia type 2. AM J HUM GENET , 65 (4) A293 - A293.

F

Farrer, M and Gwinn-Hardy, K and Hutton, M and Hardy, J (1999) The genetics of disorders with synuclein pathology and parkinsonism. HUMAN MOLECULAR GENETICS , 8 (10) 1901 - 1905. 10.1093/hmg/8.10.1901.

Farrer, M and Gwinn-Hardy, K and Muenter, M and DeVrieze, FW and Crook, R and Perez-Tur, J and Lincoln, S and Maraganore, D and Adler, C and Newman, S and MacElwee, K and McCarthy, P and Miller, C and Waters, C and Hardy, J (1999) A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. HUMAN MOLECULAR GENETICS , 8 (1) 81 - 85. 10.1093/hmg/8.1.81.

Flowers, JM and Leigh, PN and Davies, AM and Ninkina, NN and Buchman, VL and Vaughan, J and Wood, NW and Powell, JF (1999) Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease. Neuroscience Letters , 274 (1) 21 - 24.

Froelich, S and Houlden, H and Rizzu, P and Chakraverty, S and Baker, M and Kwon, J and Nowotny, P and Isaacs, A and Nowotny, V and Wauters, E and van Baren, MJ and Oostra, BA and Hardy, J and Lannfelt, L and Goate, A and Hutton, M and Lendon, CL and Heutink, P (1999) Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. GENOMICS , 60 (2) 129 - 136.

G

Geddes, JF and Vowles, GH and Nicoll, JAR and Revesz, T (1999) Neuronal cytoskeletal changes are an early consequence of repetitive head injury. ACTA NEUROPATHOL , 98 (2) 171 - 178.

Giunti, P and Stevanin, G and Worth, PF and David, G and Brice, A and Wood, NW (1999) Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and De Novo mutation. AM J HUM GENET , 64 (6) 1594 - 1603.

Grover, A and Houlden, H and Baker, M and Adamson, J and Lewis, J and Prihar, G and Pickering-Brown, S and Duff, K and Hutton, M (1999) 5 ' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J BIOL CHEM , 274 (21) 15134 - 15143.
An open access publication

Groves, MJ and An, SF and Giometto, B and Scaravilli, F (1999) Inhibition of sensory neuron apoptosis and prevention of loss by NT-3 administration following axotomy. EXP NEUROL , 155 (2) 284 - 294.

Groves, MJ and Martinian, L and An, SF and Scaravilli, F (1999) Expression of three oligosaccharide conjugates by neonatal rat dorsal root ganglion neurons: comparison with CGRP and GAP43 immunoreactivity. J ANAT , 195 271 - 280.

Gutowski, NJ and Gomez-Anson, B and Torpey, N and Revesz, T and Miller, DH and Rudge, P (1999) Oligodendroglial gliomatois cerebri: H-1-MRS suggests elevated glycine/inositol levels. NEURORADIOLOGY , 41 (9) 650 - 653.

Gwinn-Hardy, K and Evidente, VGH and Waters, C and Muenter, MD and Hardy, J (1999) L-dopa slows the progression of familial parkinsonism. LANCET , 353 (9167) 1850 - 1851. 10.1016/S0140-6736(99)01398-7.

H

Hanna, MG (1999) Case 22. In: Wills, AJ and Marsden, CD, (eds.) Fifty neurological cases from the National Hospital. (71 - 74). Martin Dunitz: London.

Hanna, MG (1999) Case 8. In: Wills, AJ and Marsden, CD, (eds.) Fifty neurological cases from the National Hospital. (23 - 25). Martin Dunitz: London.

Hanna, MG and Nelson, IP (1999) Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases. CELL MOL LIFE SCI , 55 (5) 691 - 706.

Hardy, J (1999) Pathways to primary neurodegenerative disease. MAYO CLINIC PROCEEDINGS , 74 (8) 835 - 837.

Hardy, J (1999) The shorter amyloid cascade hypothesis. NEUROBIOLOGY OF AGING , 20 (1) 85 - 85.

Hardy, J and Gwinn-Hardy, K (1999) Neurodegenerative disease: a different view of diagnosis. MOLECULAR MEDICINE TODAY , 5 (12) 514 - 517. 10.1016/S1357-4310(99)01604-4.

Hardy, J and Israel, A (1999) Alzheimer's disease - In search of gamma-secretase. NATURE , 398 (6727) 466 - 467. 10.1038/18979.

Harhangi, BS and Farrer, MJ and Lincoln, S and Bonifati, V and Meco, G and De Michele, G and Brice, A and Dürr, A and Martinez, M and Gasser, T and Bereznai, B and Vaughan, JR and Wood, NW and Hardy, J and Oostra, BA and Breteler, MMB (1999) The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neuroscience Letters , 270 (1) 1 - 4.

Harhangi, BS and Farrer, MJ and Lincoln, S and Bonifati, V and Meco, G and De Michele, G and Brice, A and Durr, A and Martinez, M and Gasser, T and Bereznai, B and Vaughan, JR and Wood, NW and Hardy, J and Oostra, BA and Breteler, MMB (1999) The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. NEUROSCI LETT , 270 (1) 1 - 4.

Hodgson, DJ and David, KM and Powell, M and Holton, JL and Pezzella, F (1999) Intracranial extracerebral follicular lymphoma mimicking a sphenoid wing meningioma. J NEUROL NEUROSUR PS , 67 (2) 251 - 252.

Houlden, H and Baker, M and Adamson, J and Grover, A and Waring, S and Dickson, D and Lynch, T and Boeve, B and Petersen, RC and Pickering-Brown, S and Owen, F and Neary, D and Craufurd, D and Snowden, J and Mann, D and Hutton, M (1999) Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. ANN NEUROL , 46 (2) 243 - 248.

Houlden, H and Lee, MJ and Sweeney, M and Davis, M and Jacobs, J and Love, S and Thomas, PK and Wood, N and Reilly, M (1999) Genetic linkage analysis in hereditary motor and sensory neuropathy type II: a five generation kindred with prominent sensory complication. J MED GENET , 36 S34 - S34.

Houlden, H and Rizzu, P and Stevens, M and de Knijff, P and van Duijn, CM and van Swieten, JC and Heutink, P and Perez-Tur, J and Thomas, V and Baker, M and Morris, H and Rossor, M and Jannsen, JC and Petersen, RC and Dodd, P and Dark, F and Boeve, B and Dickson, D and Davies, P and Pickering-Brown, S and Mann, D and Adamson, J and Lynch, T and Payami, H and Poorkaj, P and Bird, TD and Schellenberg, GD and Chakraverty, S and Norton, J and Morris, JC and Goate, A and Hutton, M and Hardy, J (1999) Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations. NEUROSCI LETT , 260 (3) 193 - 195.

Hu, HL and Bennett, N and Holton, JL and Nolan, CC and Lister, T and Cavanagh, JB and Ray, DE (1999) Glutathione depletion increases brain susceptibility to m-dinitrobenzene neurotoxicity. NEUROTOXICOLOGY , 20 (1) 83 - 90.

J

Jacob, J and Revesz, T and Thom, M and Rossor, MN (1999) A case of sporadic Pick disease with onset at 27 years. ARCH NEUROL-CHICAGO , 56 (10) 1289 - 1291.

Jarman, P and Wood, N (1999) Parkinson's disease genetics comes of age - Knowledge about genes in familial parkinsonism helps elucidate idiopathic disease. BRIT MED J , 318 (7199) 1641 - 1642.

Jarman, PR and del Grosso, N and Valente, EM and Leube, B and Cassetta, E and Bentivoglio, AR and Waddy, HM and Uitti, RJ and Maraganore, DM and Albanese, A and Frontali, M and Auburger, G and Bressman, SB and Wood, NW and Nygaard, TG (1999) Primary torsion dystonia: the search for genes is not over. J NEUROL NEUROSUR PS , 67 (3) 395 - 397.

K

Kamboh, MI and Aston, CE and Perez-Tur, J and Kokmen, E and Ferrell, RE and Hardy, J and DeKosky, ST (1999) A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. NEUROSCIENCE LETTERS , 263 (2-3) 129 - 132. 10.1016/S0304-3940(99)00129-9.

Kehoe, P and Wavrant-De Vrieze, F and Crook, R and Wu, WS and Holmans, P and Fenton, I and Spurlock, G and Norton, N and Williams, H and Williams, N and Lovestone, S and Perez-Tur, J and Hutton, M and Chartier-Harlin, MC and Shears, S and Roehl, K and Booth, J and Van Voorst, W and Ramic, D and Williams, J and Goate, A and Hardy, J and Owen, MJ (1999) A full genome scan for late onset Alzheimer's disease. HUMAN MOLECULAR GENETICS , 8 (2) 237 - 245. 10.1093/hmg/8.2.237.

Khan, NL and Wood, NW (1999) Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities. Curr Opin Neurol , 12 (2) 149 - 154.

Kidd, D and Barkhof, F and McConnell, R and Algra, PR and Allen, IV and Revesz, T (1999) Cortical lesions in multiple sclerosis. BRAIN , 122 17 - 26.

L

Lambert, JC and Berr, C and Pasquier, F and Delacourte, A and Frigard, B and Cottel, D and Perez-Tur, J and Mouroux, V and Mohr, M and Cecyre, D and Galasko, D and Lendon, C and Poirier, J and Hardy, J and Mann, D and Amouyel, P and Chartier-Harlin, MC (1999) The risk of developing Alzheimer's disease associated with the APOE promoter polymorphisms. In: ALZHEIMER'S DISEASE AND RELATED DISORDERS. (pp. 47 - 52).

Lee, MJ and Houlden, H and Sweeney, M and Davis, M and Thomas, PK and Manji, H and Wood, N and Reilly, M (1999) Sequencing of the peripheral myelin protein zero (MPZ) gene in hereditary motor and sensory neuropathy (HMSN): assessment of the frequency of MPZ gene mutations in HMSN type IIII. J MED GENET , 36 S20 - S20.

Lincoln, S and Crook, R and Chartier-Harlin, MC and Gwinn-Hardy, K and Baker, M and Mouroux, V and Richard, F and Becquet, E and Amouyel, P and Destee, A and Hardy, J and Farrer, M (1999) No pathogenic mutations in the beta-synuclein gene in Parkinson's disease. NEUROSCIENCE LETTERS , 269 (2) 107 - 109. 10.1016/S0304-3940(99)00420-6.

Lincoln, S and Gwinn-Hardy, K and Goudreau, J and Chartier-Harlin, MC and Baker, M and Mouroux, V and Richard, F and Destee, A and Becquet, E and Amouyel, P and Lynch, T and Hardy, J and Farrer, M (1999) No pathogenic mutations in the persyn gene in Parkinson's disease. NEUROSCIENCE LETTERS , 259 (1) 65 - 66. 10.1016/S0304-3940(98)00901-X.

Lincoln, S and Vaughan, J and Wood, N and Baker, M and Adamson, J and Gwinn-Hardy, K and Lynch, T and Hardy, J and Farrer, M (1999) Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease. NEUROREPORT , 10 (2) 427 - 429.

M

Maraganore, DM and Farrer, MJ and Hardy, JA and Lincoln, SJ and McDonnell, SK and Rocca, WA (1999) Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. NEUROLOGY , 53 (8) 1858 - 1860.

Marques, W and Hanna, MG and Marques, SR and Sweeney, MG and Thomas, PK and Wood, NW (1999) Phenotypic variation of a new P0 mutation in genetically identical twins. J NEUROL , 246 (7) 596 - 599.

Marques, W and Sweeney, MG and Wood, NW and Wroe, SJ and Marques, W (1999) Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. J NEUROL NEUROSUR PS , 66 (6) 803 - 804.

Morgan-Hughes, JA and Hanna, MG (1999) Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype. Biochim Biophys Acta , 1410 (2) 125 - 145.

Morris, HR and Baker, M and Lees, AJ and Hutton, M and Hardy, J and Wood, NW (1999) Further analysis of the association of tau with progressive supranuclear palsy. The American Journal of Human Genetics , 65 2621 - ?.

Morris, HR and Baker, M and Lees, AJ and Hutton, M and Hardy, J and Wood, NW (1999) Further analysis of the association of tau with progressive supranuclear palsy. AM J HUM GENET , 65 (4) A462 - A462.

Morris, HR and Janssen, JC and Bandmann, O and Daniel, SE and Rossor, MN and Lees, AJ and Wood, NW (1999) The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J NEUROL NEUROSUR PS , 66 (5) 665 - 667.

Morris, HR and Lees, AJ and Wood, NW (1999) Neurofibrillary tangle parkinsonian disorders - Tau pathology and tau genetics. MOVEMENT DISORD , 14 (5) 731 - 736.

Morris, HR and Perez-Tur, J and Janssen, JC and Brown, J and Lees, AJ and Wood, NW and Hardy, J and Hutton, M and Rossor, MN (1999) Mutation in the tau exon 10 splice site region in familiar frontotemporal dementia. ANN NEUROL , 45 (2) 270 - 271.

Morris, HR and Wood, NW and Lees, AJ (1999) Progressive supranuclear palsy (Steele-Richardson-Olszewski disease). POSTGRAD MED J , 75 (888) 579 - 584.

Myllykangas, L and Polvikoski, T and Sulkava, R and Verkkoniemi, A and Crook, R and Tienari, PJ and Pusa, AK and Niinisto, L and O'Brien, P and Kontula, K and Hardy, J and Haltia, M and Perez-Tur, J (1999) Genetic association of alpha(2)-macroglobulin with Alzheimer's disease in a Finnish elderly population. ANNALS OF NEUROLOGY , 46 (3) 382 - 390. 10.1002/1531-8249(199909)46:3<382::AID-ANA14>3.0.CO;2-5.

O

Ostrerova, N and Petrucelli, L and Farrer, M and Mehta, N and Choi, P and Hardy, J and Wolozin, B (1999) alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. JOURNAL OF NEUROSCIENCE , 19 (14) 5782 - 5791.

P

Perez-Tur, J and Buee, L and Morris, HR and Waring, SC and Onstead, L and Wavrant-De Vrieze, F and Crook, R and Buee-Scherrer, V and Hof, PR and Petersen, RC and McGeer, PL and Delacourte, A and Hutton, M and Siddique, T and Ahlskog, JE and Hardy, J and Steele, JC (1999) Neurodegenerative diseases of Guam: Analysis of TAU. NEUROLOGY , 53 (2) 411 - 413.

Prihar, G and de Chavez, FG and Baker, M and Crook, R and McGowan, E and Grover, A and Hardy, J and Hutton, M (1999) A novel candidate presenilin-1 interacting protein containing tetratricopeptide repeats. NEUROREPORT , 10 (7) 1409 - 1415. 10.1097/00001756-199905140-00005.

Prihar, G and Verkkoniem, A and Perez-Tur, J and Crook, R and Lincoln, S and Houlden, H and Somer, M and Paetau, A and Kalimo, H and Grover, A and Myllykangas, L and Hutton, M and Hardy, J and Haltia, M (1999) Alzheimer disease PS-1 exon 9 deletion defined. Nat Med , 5 (10) 1090 - ?. 10.1038/13383.

Prihar, G and Verkkoniemi, A and Perez-Tur, J and Crook, R and Lincoln, S and Moulden, H and Somer, M and Paetau, A and Kalimo, H and Grover, A and Myllykangas, L and Hutton, M and Hardy, J and Haltia, M (1999) Alzheimer disease PS-1 exon 9 deletion defined. NATURE MEDICINE , 5 (10) 1090 - 1090.

Pulkes, T and Eunson, L and Patterson, V and Siddiqui, A and Wood, NW and Nelson, IP and Morgan-Hughes, JA and Hanna, MG (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. ANN NEUROL , 46 (6) 916 - 919.

R

Rahman, S and Taanman, JW and Cooper, JM and Nelson, I and Hargreaves, I and Meunier, B and Hanna, MG and Garcia, JJ and Capaldi, RA and Lake, BD and Leonard, JV and Schapira, AHV (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. AM J HUM GENET , 65 (4) 1030 - 1039.

Refolo, LM and Eckman, C and Prada, CM and Yager, D and Sambamurti, K and Mehta, N and Hardy, J and Younkin, SG (1999) Antisense-induced reduction of presenilin 1 expression selectively increases the production of amyloid beta 42 in transfected cells. JOURNAL OF NEUROCHEMISTRY , 73 (6) 2383 - 2388. 10.1046/j.1471-4159.1999.0732383.x.

Revesz, T and Holton, JL and Crooks, R and Scaravilli, F (1999) Evidence for pathological involvement of the spinal cord in motor neuron disease-inclusion dementia. J NEUROPATH EXP NEUR , 58 (5) 547 - 547.

Revesz, T and Holton, JL and Doshi, B and Anderton, BH and Scaravilli, F and Plant, GT (1999) Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation. ACTA NEUROPATHOL , 97 (2) 170 - 176.

Robinson, R and McCarthy, GT and Bandmann, O and Dobbie, M and Surtees, R and Wood, NW (1999) GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness. J NEUROL NEUROSUR PS , 66 (1) 86 - 89.

Robinson, RO and McCarthy, GT and Bandmann, O and Dobbie, M and Surtees, R and Wood, NW (1999) GTP cyclohydrolase deficiency: intrafamilial variation in phenotype, including levadopa responsiveness. Journal of Neurology, Neurosurgery and Psychiatry , 66 86 - 89.

Rojo, A and Pernaute, RS and Fontan, A and Ruiz, PG and Honnorat, J and Lynch, T and Chin, S and Gonzalo, I and Rabano, A and Martinez, A and Daniel, S and Pramsteller, P and Morris, H and Wood, N and Lees, A and Tabernero, C and Nyggard, T and Jackson, AC and Hanson, A and de Yebenes, JG (1999) Clinical genetics of familial progressive supranuclear palsy. BRAIN , 122 1233 - 1245.

Rosas, MJ and Simoes-Ribeiro, F and An, SF and Sousa, N (1999) Progressive multifocal leukoencephalopathy: Unusual MRI findings and prolonged survival in a pregnant woman. NEUROLOGY , 52 (3) 657 - 659.

Rudel, R and Hanna, MG and Lehmann-Horn, F (1999) Muscle channelopathies: malignant hyperthermia, periodic paralyses, paramyotonia, and myotonia. In: Schapira, AHV and Griggs, RC, (eds.) Muscle diseases. (135 - 175). Butterworth-Heinemann: Boston.

Rudrasingham, V and Wavrant-De Vrieze, F and Lambert, JC and Chakraverty, S and Kehoe, P and Crook, R and Amouyel, P and Wu, W and Rice, F and Perez-Tur, J and Frigard, B and Morris, JC and Carty, S and Petersen, R and Cottel, D and Tunstall, N and Holmans, P and Lovestone, S and Chartier-Harlin, MC and Goate, A and Hardy, J and Owen, MJ and Williams, J (1999) alpha-2 macroglobulin gene and Alzheimer disease. NATURE GENETICS , 22 (1) 17 - 19.

S

Scaravilli, F and An, SF and Groves, M and Thom, M (1999) The neuropathology of paraneoplastic syndromes. BRAIN PATHOL , 9 (2) 251 - 260.

Smith, CCT and Stanyer, L and Cooper, MB and Betteridge, DJ (1999) Platelet aggregation may not be a prerequisite for collagen-stimulated platelet generation of nitric oxide. BBA-GEN SUBJECTS , 1473 (2-3) 286 - 292.

Spacey, SD and Wood, NW (1999) The genetics of Parkinson's disease. CURR OPIN NEUROL , 12 (4) 427 - 432.

Spauschus, A and Eunson, L and Hanna, MG and Kullmann, DM (1999) Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy. MOLECULAR AND FUNCTIONAL DIVERSITY OF ION CHANNELS AND RECEPTORS , 868 442 - 446.

Steiner, H and Duff, K and Capell, A and Romig, H and Grim, MG and Lincoln, S and Hardy, J and Yu, X and Picciano, M and Fechteler, K and Citron, M and Kopan, R and Pesold, B and Keck, S and Baader, M and Tomita, T and Iwatsubo, T and Baumeister, R and Haass, C (1999) A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling. JOURNAL OF BIOLOGICAL CHEMISTRY , 274 (40) 28669 - 28673. 10.1074/jbc.274.40.28669.
An open access publication

Stevanin, G and David, G and Durr, A and Giunti, P and Benomar, A and Abada-Bendib, M and Lee, MS and Agid, Y and Brice, A (1999) Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G(3145)TG/A(3145)TG). EUR J HUM GENET , 7 (8) 889 - 896.

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