The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992