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Filter Applied: dystonia (Click to remove)

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

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

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

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

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

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

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014

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

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

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

Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003

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

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

Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
Neurol 43:36-41, Silver,K.&Andermann,F., 1993

Alternating Hemiplegia of Childhood
J Pediatr 122:673-679, Bourgeois,M.,et al, 1993

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

Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992

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

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Magnetic Resonance Imaging in Pathologically Proven Hallervorden-Spatz Disease
Neurol 39:440-442, Schaffert,D.A.,et al, 1989

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987

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

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

Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023

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

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

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

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

Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
Neurol 97:e1545, Ng, C.F.,et al, 2021

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

A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020

A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019

IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018

Treatable Bilateral Striatal Lesions Related to Anti-Dopamine 2 Receptor
Neurol 91:98-101, Marques-Matos, C.,et al, 2018

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

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

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

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

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015



Showing articles 0 to 50 of 103 Next >>