A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
NEJM 375:2381-2389, Case 38-206, 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
Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
Neurol 69:1366-1373, Schiff,D.,et al, 2007
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002
Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991
McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988