Zika Virus Associated with Microcephaly
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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The Autosomal Recessive Cerebellar Ataxias
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
Neurol 54:546-551, Stogbauer,F.,et al, 2000
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Investigation of Muscle Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial DNA and Disease
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.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
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991
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
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