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Filter Applied: dystonia (Click to remove)

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

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021

Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008

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

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

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988

Alternating Hemiplegia in Infants:Report of Five Cases
Dev Med Child Neurol 22:784-791, Krageloh,I.&Aicardi,J., 1980

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

Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021

Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019

Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017

A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 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

Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011

MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
Arch Neurol 55:957-961, Kompoliti,K.,et al, 1998

Posterior Cerebral Artery Syndromes
, Caplan,L.R. &Bogousslavsky,J., 1998

Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
Ann Neurol 35, 717-7231994., Koller,W.C.,et al, 1994

Coma Assoc with Bursts of Abnor Movements & Cognitive Disturb:Acute Encephalopathy of Obscure Origin
J Pediatr 121:845-851, Sebire,G.,et al, 1992

A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992

Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022

Clinical and Radiologic Features of Pedicatric Opioid Use-Associated Neurotoxicity with Cerebellar Edema (POUNCE) Syndrome
Neurol 94:710-712, Kim, D.D. & Prasad, A.N., 2020

Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020

Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019

Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 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

Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1096, Ropper, A.H.,et al, 2014

Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013



Showing articles 0 to 50 of 87 Next >>