Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Practice Parameter Update: The Care of the Patient with Amyotrophic Lateral Sclerosis: Drug, Nutritional, and Respiratory Therapies (An Evidence-Based Review)
Neurol 73:1218-1226, Miller,R.G.,et al, 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Practice Parameter:The Care of the Patient with Amyotrophic Lateral Sclerosis (An Evidence-Based Review), Report of the Quality Standards Subcommittee of the AAN
Neurol 52:1311-1323, Miller,R.G.,et al, 1999
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
A Prospective Study of Acute Idiopathic Neuropathy, I, Clinical Features & Their Prognostic Value
JNNP 51:605-612, Winer,J.B.,et al, 1988
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987