Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Comparison of First Degree Relatives and Spouses of Poeple with Chronic Tension Headache
BMJ 314:1092-1093, Ostergaard,S.,et al, 1997
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996