Movement disorders (other than Parkinsons)

No evidence of allelic heterogeneity in theDYT1 gene of European patients with early onset torsion dystonia
Sylvie Tuffery-Giraud, Laurent Cavalier, Agathe Roubertie, Caroline Guittard, Soukeyna Carles, Patrick Calvas, Bernard Echenne, Philippe Coubes, Mireille Claustres

Journal of Medical Genetics Oct 2001, 38 (10) e35; DOI: 10.1136/jmg.38.10.e35
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
D E McNeil, W M Linehan, G M Glenn

Journal of Medical Genetics Jul 2002, 39 (7) e37; DOI: 10.1136/jmg.39.7.e37
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
D Poyatos, M Guitart, E Gabau, C Brun, M Mila, J Vaquerizo, M D Coll

Journal of Medical Genetics Feb 2002, 39 (2) e4; DOI: 10.1136/jmg.39.2.e4
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
Siv Fokstuen, Jenny Myring, Linda Meredith, David Ravine, Peter S Harper

Journal of Medical Genetics Dec 2001, 38 (12) e42; DOI: 10.1136/jmg.38.12.e42
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
K Brockmann, R Böhm, J Bürger

Journal of Medical Genetics Sep 2002, 39 (9) e51; DOI: 10.1136/jmg.39.9.e51
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
F Maggouta, S E Roberts, N R Dennis, M W M Veltman, J A Crolla

Journal of Medical Genetics Jul 2003, 40 (7) e84; DOI: 10.1136/jmg.40.7.e84
A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction
S Roberts, F Maggouta, R Thompson, S Price, S Thomas

Journal of Medical Genetics Feb 2002, 39 (2) e9; DOI: 10.1136/jmg.39.2.e9
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

Journal of Medical Genetics Nov 2007, 44 (11) 695-701; DOI: 10.1136/jmg.2007.050930
Molecular and clinical study of two myotonic dystrophy homozygotes
Fahri Akbas, Piraye Serdaroglu, Feza Deymeer, Fikret Aysal, Nihan Erginel-Unaltuna

Journal of Medical Genetics Nov 2001, 38 (11) e40; DOI: 10.1136/jmg.38.11.e40

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Movement disorders (other than Parkinsons)

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