Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,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
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
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
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
A Woman in Her 60s with Chronic Meningitis from Aspergillus
JAMA Neurol 74:348-352, Pichler, M.R.,et al, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Is There a Gulf War Syndrome? Searching for Syndromes by Factor Analysis of Symptoms
JAMA 227:215-222, 2591997., Haley,R.W.,et al, 1997
Self-Reported Exposure to Neurotoxic Chemical Combinations in the Gulf War:A Cross-Sectional Epidemiologic Study
JAMA 227:231-237, 2591997., Haley,R.W.&Kurt,T.L., 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Lyme Neuroborreliosis
Ann Neurol 37:691-702, Garcia-Monco,J.C.&Benach,J.L., 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Further Reg Var of Acute Polyneuro:Bifacial or 6th Nerve Paresis, Lumbar Polyrad & Ataxia/Phary Cervical-Brachial Wkness
Arch Neurol 51:671-675, Ropper,A.H., 1994
Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
Muscle & Nerve 17:943-945994., Calabresi,P.,et al, 1994
Sarcoidosis of the Nervous System, A Clinical Approach
Arch Int Med 151:1317-1321, Sharma,Om.P.&Sharma,A.D., 1991
Hypothyroidism
In Neurologic Clinics, W. B. Saunders Co, Phila, 7:492-493., Kaminski,H.J.&Ruff,R.L., 1989