Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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A Neonate with Micrognathia and Hypotonia
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 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
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 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
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
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An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,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 with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Adverse Events Following Pertussis and Rubella Vaccines, Summary of a Report of the Institute of Medicine
JAMA 267:392-396, Howson,C.P.&Fineberg,H.V., 1992
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Transsection of the Spinal Cord Associated with Breech Delivery
Am J Dis Child 146:351-352, DiMario,F.J.&Wood,B.P., 1992
Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
Ann Neurol 32:51-56, Rivkin,M.J.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992
Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
Pediatrics 87:159-165, Schreiner,M.S.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
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
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
The Causes of Cerebral Palsy
JAMA 247:1473-1477, Holm,V.A., 1982
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980
Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
Ann Neurol 8:317-324, Steiman,G.S.,et al, 1980
A Synd of Methylmal Acid, Homocystinuria, Megaloblas. Anemia & Neurol Abnor. in a Vit B-12-def Breast-fed Infant of veget
NEJM 299:317, Higginbottom,M.C., 1978
Hyperphenylalaninemia Due To A Deficiency of Biopterin
NEJM 299:673-679, Stanley,S.K.,et al, 1978
Guillain-Barre Syndrome with Hydrocephalus in Early Infancy
Arch Neurol 34:567, Gilmartin,R.C.,et al, 1977
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