Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,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
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Fabry Disease
Adams & Victors Principles of Neurology, Chp 37, pg 991, Ropper, A.H.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,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
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005