Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985
Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973