A 40-Year-Old Woman Presenting with Distal Leg Weakness
Neurol 92:242-247, Fam, D.,et al, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Paraparesis in Hereditary Multiple Exostoses:Case Report
Neurol 29:973-977, Ferrari,G.,et al, 1979
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978