Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
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Niemann-Pick Type C Disease
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Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia:A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial
Ann Neurol 97:329-343, Simonyan,K.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference,Limb-Shaking Transient Ischemia Attacks
NEJM 389:1416-1423, Case 31-2023, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Torticollis in a Child with Otalgia
BMJ 378:e070608, Sarathi, C.I.P.,et al, 2022
Clinical and Structural Findings in Patients with Lesion-Induced Dystonia
Neurol 99:e1957-e1967, Corp, D.T.,et al, 2022
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
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A 56-Year-Old Man with Unusual Presentation of Subacute Encephalopathy and Seizure
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A 6-Year-Old Girl with Progressive Toe Walking
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Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
Neurol 97:e1545, Ng, C.F.,et al, 2021
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
Anti-NMDAR Encephalitis Presenting as Stroke-Like Episodes in Children: A Case Series from a Tertiary Care Referral Centre from Southern India
J Pediatr Neurosci 16:194-198, Gowda,V.K.,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
Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
Functional Gait Disorders
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A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
MR Imaging of the Brain in Neurologic Wilson Disease
AJNR 40:178-183, Yu, X.-E.,et al, 2019
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Recurrent Involuntary Contractions of the Face, Arm, and Leg in an Elderly Man
JAMA Neurol 76:728-729, Kim, D.D.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Anti-LG11 Limbic Encephalitis Presenting as an Expanding Insular Lesion
Can J Neuro Sci 46:770-772, Sitwell,L.D.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Antibody-Mediated Encephalitis
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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
Lithium-Induced Reversible Pisa Syndrome
Neurol 88:e184, Kumar, N.,et al, 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Thalamic Deep Brain Stimulation for Tremor in Parkinson Disease, Essential Tremor, and Dystonia
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Paraneoplastic and Autoimmune Encephalitis
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
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Faciobrachial Dystonic Seizures
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Practice Guideline Update Summary: Botulinum Neurotoxin for the Treatment of Blepharospasm, Cervical Dystonia, Adult Spasticity, and Headache
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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016