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
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
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
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
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
Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 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
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
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
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
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
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
Intracranial Hemorrhage in the Newborn:Current Understanding & Dilemmas
Neurol 29:632-635, Volpe,J.J., 1979
Nemaline (Rod) Myopathy:The Need for Histochemical Evaluation of Affected Families
Ann Neurol 4:37, Bender,A.N.,et al, 1978
The Lissencephaly, (Agyria) Syndrome in Siblings
Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978
Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978
Guillain-Barre Syndrome with Hydrocephalus in Early Infancy
Arch Neurol 34:567, Gilmartin,R.C.,et al, 1977
Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
(Ed) , 1975. W. B. Saunders Co, p, Gardner,L.I., 1975
Neurology & Psychiatry Section-Year book of Pediatrics
Pediatr Abstract p. 406-449., , 1850