Movement disorders (other than Parkinsons)

Citations 1-10 of 43 total displayed.

Original articles
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, J M LaSalle
J. Med. Genet. 2009 46: 86 -93; published online before print as 10.1136/jmg.2008.061580 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Review
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes

J Rochette, P Roll, P Szepetowski
J. Med. Genet. 2008; 45: 773-779. [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

P de Bie, P Muller, C Wijmenga, L W J Klomp
J. Med. Genet. 2007 44: 673 -688; published online before print as 10.1136/jmg.2007.052746 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Factors associated with HD CAG repeat instability in Huntington disease

V C Wheeler, F Persichetti, S M McNeil, J S Mysore, S S Mysore, M E MacDonald, R H Myers, J F Gusella, N S Wexler, The US–Venezuela Collaborative Research Group
J. Med. Genet. 2007 44: 695 -701; published online before print as 10.1136/jmg.2007.050930 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

S Rossignol, V Steunou, C Chalas, A Kerjean, M Rigolet, E Viegas-Pequignot, P Jouannet, Y Le Bouc, C Gicquel
J. Med. Genet. 2006 43: 902 -907; published online before print as 10.1136/jmg.2006.042135 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

T Sahoo, S U Peters, N S Madduri, D G Glaze, J R German, L M Bird, R Barbieri-Welge, T J Bichell, A L Beaudet, C A Bacino
J. Med. Genet. 2006 43: 512 -516; published online before print as 10.1136/jmg.2005.036913 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

S Tezenas du Montcel, F Clot, M Vidailhet, E Roze, P Damier, C P Jedynak, A Camuzat, A Lagueny, L Vercueil, D Doummar, L Guyant-Maréchal, J-L Houeto, G Ponsot, S Thobois, M-A Cournelle, A Durr, F Durif, B Echenne, D Hannequin, C Tranchant, A Brice the French Dystonia Network
J. Med. Genet. 2006 43: 394 -400; published online before print as 10.1136/jmg.2005.036780 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

A M Pittman, A J Myers, P Abou-Sleiman, H C Fung, M Kaleem, L Marlowe, J Duckworth, D Leung, D Williams, L Kilford, N Thomas, C M Morris, D Dickson, N W Wood, J Hardy, A J Lees, R de Silva
J. Med. Genet. 2005 42: 837 -846; published online before print as 10.1136/jmg.2005.031377 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Global analysis of uniparental disomy using high density genotyping arrays

S Bruce, R Leinonen, C M Lindgren, K Kivinen, K Dahlman-Wright, M Lipsanen-Nyman, K Hannula-Jouppi, J Kere
J. Med. Genet. 2005 42: 847 -851; published online before print as 10.1136/jmg.2005.032367 [Abstract] [Full text] [PDF] [Request Permissions]  

Hypothesis
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

M Ludwig, A Katalinic, S Groß, A Sutcliffe, R Varon, B Horsthemke
J. Med. Genet. 2005; 42: 289-291. [Abstract] [Full text] [PDF] [Request Permissions]