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adrenoleukodystrophy
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Showing articles 0 to 49 of 49

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients with Neimann-Pick Disease Type C
Neurol 105:e213589, Patterson,M.C., et al, 2025

Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022

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

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

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

Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014

Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012

Heterozygous Niemann-Pick Disease Type C Presenting with Tremor
Neurol 63:2189-2190, Josephs,K.A.,et al, 2004

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

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

Neimann-Pick Disease Type C in a Middle-Aged Woman
Neurol 43:1435-1436, Lanska,D.J.&Lanska,M.J., 1993

Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
Arch Neurol 49:28-31, Hulette,C.M.,et al, 1992

The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991

Adult Sphingomyelinase Deficiency:Report of 2 Patients who Initially Presented with Psychiatric Disorders
Neurol 40:132-136, Dubois,G.,et al, 1990

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Niemann-Pick Disease
Correspondence NEJM 289:590, Dacremont,G.,et al, 1973

Progressive Paresis of Vertical Gaze in Lipid Storage Disease
Neurol 21:896, Grover,W., 1971

Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021

Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020

A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016

Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015

Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013

Clinicopath Conf., Pick's Disease, Case 11-2000
NEJM 342:1110-1117, , 2000

A Case of Sporadic Pick Disease With Onset at 27 Years
Arch Neurol 56:1289-1291, Jacob,J.,et al, 1999

What Are the Obstacles for an Accurate Clinical Diagnosis of Pick's Disease
Neurol 49:62-69, Litvan,I.,et al, 1997

Frontotemporal Degeneration, Pick Disease, and Corticobasal Degeneration
Arch Neurol 54:1425-1427, 14291997., Neary,D., 1997

Frontotemporal Dementia, Pick Disease, and Corticobasal Degeneration
Arch Neurol 54:1427-1429, Kertesz,A., 1997

Clinicopath Conf
Focal Cortical Dysplasia, Case 7-1996, NEJM 334:586-592996., , 1996

Clinicopath Conf
Progressive Multifocal Leukoencephalopathy & Systemic Lupus Erythematosus, Case 20-1995, NEJM 332:17, 3-17995., 1995

Apolipoprotein E Genotype in Diverse Neurodegenerative Disorders
Ann Neurol 38:131-135, Schneider,J.A.,et al, 1995

The Pathology and Nosology of Primary Progressive Aphasia
Neurol 44:2065-2072, Kertesz,A.,et al, 1994

Pick's Disease Versus Alzheimer's Disease:A Comparison of Clinical Characteristics
Neurol 43:289-292, Mendez,M.F.,et al, 1993

Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992

Pick's Disease:A Case Clinically Resembling Amyotrophic Lateral Sclerosis
Neurol 41:1831-1833, Sam,M.,et al, 1991

The Spectrum of Imaging and Neuropsychological Findings in Pick's Disease
Neurol 39:362-368, Knopman,D.S.,et al, 1989

Positron Emission Tomography & Histopathology in Pick's Disease
Neurol 37:439-445, Kamo,H.,et al, 1987

Clinicopath. Conference
Pick's Disease of Brain, with Frontal Lobar Atrophy, Degen of Basal Ganglia, Case 16-1986, NEJM 314:, 101-,1986., 1986

Classic & Generalized Variants of Pick's Disease, A Clinicopath, Ultrastruc & Immunocyto Study
Ann Neurol 16:467-480, Munoz-Garcia,D.,et al, 1984

The Human Kluver-Bucy Syndrome
Neurol 33:1141-1145, Lilly,R.,et al, 1983

Computed Tomography in Pick's Disease:Findings in a Family Affected in Three Consecutive Generations
J Comput Assist Tomogr 6:907-911, Groen,J.J.,et al, 1982

Kluver-Bucy Syndrome in Pick disease:Clinical & patho-logic Correlations
Neurol 31:1415-1422, Cummings,J.L.,et al, 1981

Clinical Neuropathological Conference
(Ed) , Dis Ner Sys 34:124, 1973, Pick's Disease., Aronson,S.&Aronson,B., 1973



Showing articles 0 to 49 of 49