Differential Diagnosis of Bilateral Thalamic Lesions
Clin Neuroradiol 17:3-22, Linn,J.,et al, 2007
The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
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
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
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Congenital Myasthenic Syndromes
In:Neurologic Clinics, 12:401-4371994., Engel,A.G., 1994
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Myasthenia Gravis & Myasthenic Syndromes
Ann Neurol 16:519-534, Engel,A.G., 1984
Peripheral Neuropathy, A Review
JAMA 335:255-266, Mauermann,M.L. & Staff,N.P., 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Management of Stroke in Neonates and Children
Stroke 50:e51-e96, Ferriero, D.M.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019