Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
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
Early Child Development and Exposure to Antiepileptic Drugs Prenatally and Through Breastfeeding
JAMA Neurol 70:1367-1374, Veiby, G.,et al, 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Mental Development of 2-Year-Old Children Exposed to Alcohol in Utero
J Pediatr 120:740-746, Autti-Ramo,I.,et al, 1992
Cognitive and Motor Development in Infants at Risk for Human Immunodeficiency Virus
Am J Dis Child 146:218-222, Aylward,E.H.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
Pediatrycs 87:421-430, Keeney,S.E.,et al, 1991
Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
Pediatrics 85:737-742, Rowland,E.H.,et al, 1990
Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Fetal Methylmercury Poisoning:Clinical & Toxicological Data on 29 Cases
Ann Neurol 7:348-353, Marsh,D.O.,et al, 1980
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Adverse Effects on Offspring of Maternal Alcohol Abuse During Pregnancy
NEJM 297:528, Ouellette,E.M.,et al, 1977