Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978
Neurologic Disorders in Renal Failure (1st of Two Parts)
NEJM 294:143, Raskin,N.H.,et al, 1976
Normocalcemic Tetany
Neurol 26:825, Isgreen,W.P., 1976