Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985
Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980
The Neuropathy of Acute Intermittent Porphyria
Quart J Med 38:307, 1969 July., Ridley,A., 1969
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Transsection of the Spinal Cord Associated with Breech Delivery
Am J Dis Child 146:351-352, DiMario,F.J.&Wood,B.P., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990
Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977