Parkinson's disease

Citations 1-10 of 14 total displayed.

Original articles
Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

J Brooks, J Ding, J Simon-Sanchez, C Paisan-Ruiz, A B Singleton, S W Scholz
J. Med. Genet. 2009 46: 375 -381; published online before print as 10.1136/jmg.2008.063917 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Letter to JMG
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism

C Piccoli, M Ripoli, G Quarato, R Scrima, A D’Aprile, D Boffoli, M Margaglione, C Criscuolo, G De Michele, A Sardanelli, S Papa, N Capitanio
J. Med. Genet. 2008 45: 596 -602; published online before print as 10.1136/jmg.2008.058628 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery

E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, S L Sherman
J. Med. Genet. 2008 45: 290 -297; published online before print as 10.1136/jmg.2007.054676 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls

S Lesage, E Lohmann, F Tison, F Durif, A Dürr, A Brice, for the French Parkinson’s Disease Genetics Study Group
J. Med. Genet. 2008 45: 43 -46; published online before print as 10.1136/jmg.2007.051854 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Size bias of fragile X premutation alleles in late-onset movement disorders

Sebastien Jacquemont, Maureen A Leehey, Randi J Hagerman, Laurel A Beckett, Paul J Hagerman
J. Med. Genet. 2006 43: 804 -809; published online before print as 10.1136/jmg.2006.042374 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, A J Griffith
J. Med. Genet. 2005; 42: 159-165. [Extract] [Full text] [PDF] [Request Permissions]  

Short reports
Parkinsonism among Gaucher disease carriers

O Goker-Alpan, R Schiffmann, M E LaMarca, R L Nussbaum, A McInerney-Leo, E Sidransky
J. Med. Genet. 2004; 41: 937-940. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, P J Hagerman
J. Med. Genet. 2004; 41: e43. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

P J Lockhart, S Lincoln, M Hulihan, J Kachergus, K Wilkes, G Bisceglio, D C Mash, M J Farrer
J. Med. Genet. 2004; 41: e22. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Neuroferritinopathy in a French family with late onset dominant dystonia

P F Chinnery, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, J Burn
J. Med. Genet. 2003; 40: e69. [Extract] [Full text] [PDF] [Request Permissions]