Neurology

Clusters of non-truncating mutations of P/Q type Ca²⁺ channel subunit Ca_v2.1 causing episodic ataxia 2
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali

Journal of Medical Genetics Jun 2004, 41 (6) e82; DOI: 10.1136/jmg.2003.015396
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
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics
C Wright, L Kerzin-Storrar, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e84; DOI: 10.1136/jmg.39.12.e84
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features
Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, Anders Molven

Journal of Medical Genetics Jul 2007, 44 (7) e84; DOI: 10.1136/jmg.2007.049361
Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients
L Kerzin-Storrar, C Wright, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e85; DOI: 10.1136/jmg.39.12.e85
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
F Kammoun, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, P Landrieu

Journal of Medical Genetics Jun 2004, 41 (6) e85; DOI: 10.1136/jmg.2003.014480
Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA
A Solano, J Gámez, F J Carod, M Pineda, A Playán, E López-Gallardo, A L Andreu, J Montoya

Journal of Medical Genetics Jul 2003, 40 (7) e86; DOI: 10.1136/jmg.40.7.e86
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
A De Sandre-Giovannoli, M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J M Vallat, N Lévy, A Mégarbané

Journal of Medical Genetics Jul 2003, 40 (7) e87; DOI: 10.1136/jmg.40.7.e87
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
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico
FATMA ELA TAHMAZ, SIMA SAM, GEORGE E HOGANSON, FRANKLIN QUAN

Journal of Medical Genetics Mar 2001, 38 (3) e9; DOI: 10.1136/jmg.38.3.e9

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