A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
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
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
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)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
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
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 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
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990