A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Criteria for the Diagnosis of Corticobasal Degeneration
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Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Progressive Supranuclear Palsy: A Current Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
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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's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
Pediatrics 90:612-615, Caputo,A.R.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990
Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987
Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
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
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
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A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Rapidly Progressive Corticobasal Degeneration Syndrome
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Anti-N-Methyl-d-Aspartate Receptor Encephalitis: Characteristic Behavioral and Movement Disorder
Arch Neurol 67:250-251, Ferioli,S.,et al, 2010
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Huntingtons Disease
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Sjogren Syndrome: Neurologic Complications
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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
Drug-Induced Pisa Syndrome (Pleurothotomus)
CNS Drugs 10:166-174, Suzuki, T. & Matsuzaka, H., 2002