Wilson Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
Neurol 46:1485-1486, Vidaud,D.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
Homing in on Wilson's Disease
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