Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997
Predictors of Recurrent Febrile Seizures
Arch Pediatr Adolesc Med 151:371-378, Berg,A.T.,et al, 1997
Congenital Myasthenic Syndromes
In:Neurologic Clinics, 12:401-4371994., Engel,A.G., 1994
Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
Neurol 43:1355-1360, Ronen,G.M.,et al, 1993
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 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
Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
Ann Neurol 29:469-473, Ryan,S.G.,et al, 1991
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Familial Infantile Myasthenia Gravis
Arch Neurol 42:143-144, Gieron,M.A.,et al, 1985