Cauda Equina Syndrome
BMJ 338:881-884, Lavy,C.,et al, 2009
Spinal Dural Arteriovenous Fistulas: Clinical Features in 80 Patients
JNNP 74:1438-1440, Jellema,K.,et al, 2003
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
Clinicopathologic Conference, Functional Seiaures
NEJM 388:1210-1218, Case 10-2023, 2023
Polymyalgia Rheumatica
Lancet 402:1459-1472, Espigol-Frigole,G.,et al, 2023
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Sydenham Chorea
www.UptoDate.com, Oct, Gilbert, D.L., 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Giant-Cell Arteritis and Polymyalgia Rheumatica
NEJM 371:50-57, Weyand, C.M. & Goronzy J.J., 2014
Recognition and Management of Withdrawal Delirium
NEJM 371:2109-2113, Schuckit, M.A., 2014
Diagnostic and Classification Criteria of Takayasu Arteritis
J Autoimmun 48-49:79-83, deSouza, A.W.S. & deCarvalho, J.F., 2014
Diagnosis and management of transient ischaemic attack and ischaemic stroke in the acute phase
BMJ 342:d1938, McArthur, K.S.,et al, 2011
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
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Polymyalgia Rheumatica
BMJ 336:765-769, Michet,C.J. &Matteson,E.L., 2008
Polymyalgia Rheumatica and Giant-Cell Arteritis
Lancet 372:234-245, Salvarani,C.,et al., 2008
Phenotypic Variability in Rippling Muscle Disease
Neurol 52:1453-1459, Vorgerd,M.,et al, 1999
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Presentation of Narcolepsy After 40
Neurol 50:459-465, Rye,D.B.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Vasculitis and Relate Disorders
In Textbook of Rheumatology, W.B. Saunders Co, 5th Ed, Chp 68, 1088, Valente,R.M.,et al, 1997
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Early Severe Infantile Botulism
J Pediatr 122:909-911, Hurst,D.L.&Marsh,W.W., 1993
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985