Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Alcohol-Related Acute Axonal Polyneuropathy,A Differential Diagnosis of Guillain-Barre Syndrome
Arch Neurol 55:1329-1334, Wohrle,J.C.,et al, 1998
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
Evaluation of Neurologic Function in Gulf War Veterans:A Blinded Case-Control Study
JAMA 227:223-230, 2591997., Haley,R.W.,et al, 1997
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
Primary Adhalinopathy (x-Sarcoglycanopathy) :Clin, Path & Genetic Correl in 20 Pts with Autosomal Recessive Muscular Dystrophy
Neurol 48:1227-1234, Eymard,B.,et al, 1997
Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996
Diagnostic Guidelines in Central Nervous System Whipple's Disease
Ann Neurol 40:561-568, Louis,E.D.,et al, 1996
Unusual Clinical Presentations of Cortical-Basal Ganglionic Degeneration
Ann Neurol 40:893-900, Bergeron,C.,et al, 1996
Clinicopath Conf
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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Ethylene Oxide Neurotoxicity:A Cluster of 12 Nurses with Peripheral and Central Nervous System Toxicity
Neurol 46:992-998, Brashear,A.,et al, 1996
Progressive Ataxia, Focal Seizures, and Malabsorption Syndrome in a 41 Year Old Woman
JNNP 60:225-230, Mumford,C.J.,et al, 1996
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Clinical and Magnetic Resonance Features of the Classic & Akinetic-Rigid Variants of Huntington's Dis
Arch Neurol 50:17-19, Oliva,D.,et al, 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Magnetic Resonance Imaging of Brain and the Neuromotor Disorder in Endemic Cretinism
Ann Neurol 34:91-94, Ma,T.,et al, 1993
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
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
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Coma Assoc with Bursts of Abnor Movements & Cognitive Disturb:Acute Encephalopathy of Obscure Origin
J Pediatr 121:845-851, Sebire,G.,et al, 1992
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
Hypomelanosis of Ito
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Cardioskeletal Mitochondrial Myopathy Associated with Chronic Magnesium Deficiency
Neurol 42:128-130, Riggs,J.E.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Muscle Carnitine Deficiency in Patients Using Valproic Acid
J Pediatr 118:646-649, Shapira,Y.&Gutman,A., 1991
Epidermal Nevus Synd:A Neurologic Variant with Hemimegalencephaly, Gyral Malf, Mental Retard, Seizures & Facial Hemihyper
Neurol 41:266-271, Pavone,L.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Neurologic Aspects of Cobalamin Deficiency
Medicine 70:229-245, Healton,E.B.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991