Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Diagnosis and New Treatments in Muscular Dystrophies
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Overview of Phenylketonuria
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Amyotrophic Lateral Sclerosis
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Phenylketonuria
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000
Treatment of Attention-Deficit-Hyperactivity Disorder
NEJM 340:780-788, Elia,J.,et al, 1999
Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Practice Parameter:Genetic Testing Alert
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Tourette's Syndrome:A Model Neuropsychiatric Disorder
JAMA 273:498-501, Hyde,T.M.&Weinberger,D.R., 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Myotonic Dystrophy
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Familial Intracranial Aneurysms, A Review
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992