Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
NEJM 375:2381-2389, Case 38-206, 2016
A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993
Gene Therapy for Neurologic Disease
Arch Neurol 50:1252-1268, Suhr,S.T.&Gage,F.H., 1993
DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992