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
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
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
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Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
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
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
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Clinicopathologic Conference, Primitive Neuroectodermal Tumor of CNS, with Involvement of Thalamus, Medial Cerebral Cortex, Brainstem, Cerebellum and Subarachnoid Space
NEJM 372:1550-1562, Case 12-2015, 2015
Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder
Multiple Sclerosis International ID 735486, Kim, W.,et al, 2012
Antivenom for Critically Ill Children with Neurotoxicity from Scorpion Stings
NEJM 360:2090-2098, Boyer,L.V.,et al, 2009
Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
Pediatrics 120:305-313, Christie,L.J., et al, 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection
JAMA 294:2188-2194, Keren,R.,et al, 2005
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Mycoplasma Pneumoniae Encephalitis in Childhood
J Microbiol Immunol Infect 35:173-178, Lin,W.-C., et al, 2002
Adult-Onset "Infant" Botulism:An Unusual Cause of Weakness in the Intensive Care Unit
Neurol 53:891, Li,L.Y.J.,et al, 1999
Neurologic Complications in Children with Enterovirus 71 Infection
NEJM 341:936-942, Huang,C-C.,et al, 1999
Baclofen Overdose:Drug Experimentation in a Group of Adolescents
Pediatrics 101:1045-1048, Perry,H.E.,et al, 1998
Pertussis Encephalopathy with High Cerebrospinal Fluid Antibody Titers to Pertussis Toxin and Filamentous Hemagglutinin
Pediatrics 102:986-990, Grant,C.C.,et al, 1998
Recovery From Myasthenic Crisis After Use of IVIG Therapy
Indian Pediatrics 35:901-903, Jain,K.,et al, 1998
Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
Clinical and Electrophysiological Aspects of Acute Paralytic Disease of Children and Young Adults in Northern China
Lancet 338:593-597, McKhann,G.M.,et al, 1991
Movement Disorder of Premature Infants with Severe Bronchopulmonary Dysplasia:A New Syndrome
Pediatrics 84:215-218, Perlman,J.M.&Volpe,J.J., 1989
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Clinicopath. Conference
Acquired Immunodeficiency Syndrome, Rhabdomyosarcoma, with Extensive Metastases, Case 9-1986, NEJM 3, 4:620,1986., 1986
Familial Infantile Myasthenia Gravis
Arch Neurol 42:143-144, Gieron,M.A.,et al, 1985
The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
Neurol 32:975-985, Agamanolis,D.P.,et al, 1982
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978
Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
The Neuropathy of Acute Intermittent Porphyria
Quart J Med 38:307, 1969 July., Ridley,A., 1969