Niemann-Pick Type C Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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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
Pyruvate Dehydrogenase Deficiency (PDCD)
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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
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
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
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dopamine-Responsive Dystonia
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Dystonia and Chorea in Acquired Systemic Disorders
JNNP 65:436-445, Janavs,J.L.&Aminoff,M.J., 1998
Long-Term Follow-Up of Levodopa Responsiveness in Generalized Dystonia
Arch Neurol 55:1320-1323, Dewey,R.B.,et al, 1998
Tetrabenazine Therapy of Dystonia, Chorea, Tics, & Other Dyskinesias
Neurol 38:391-394, Jankovic,J.&Orman,J., 1988
Zorevunersen in Children and Adolescents with Dravet Syndrome
NEJM 394:969-982, Laux,L.,et al, 2026
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
Spontaneous Spinal Cord Infarction in a Young Patient: An Overview of Clinical Features and Management
Stroke 56:58-61, Chornay,C.,et al, 2025
Spontaneous Intracranial Hypotension Associated with Vascular Malformations
AJNR 46:426-432, Mamlouk,M.D.,et al, 2025
Dextromethorphan-Associated Neurotoxicity with Cerebellar Edema Syndrome in Young Children:Neuroimaging Features
AJNR 46:390-394, Sharma,S.,et al, 2025
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
Neuroimaging Findings in Children and Young Adults with Neurotoxicity after CAR T-Cell Therapy for B-Cell Malignancies
Neurol 105:e214086, McGuire,J.L.,et al, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
Stroke 55:e77-e90, Saposnik,G.,et al, 2024
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
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Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A Teenager With Right-Sides Headache and Periorbital Changes
Neurol 100:144-150, Lax,D.M.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Dural Anteriovenous Fistulas Presenting as Symmetric Lesions in the Internal Capsule on Imaging Studies, A Case Report and Literature REview
Neurologist 28:304-309, Zhang,D.,et al, 2023
Manganese Accumulation in the Brain
NEJM 389:1320, Sherman,S.V., 2023
A 57-Year-Old Man with Stepwise Progressive Paraparesis, Sensory Loss, Urinary Retention, and Constipation
Neurol 98:e555-e560, Alkabie, S.,et al, 2022
Efficacy and Safety of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1
Neurol 98:e938-e946, Hwang, J.,et al, 2022
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 2022
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
Neurol 98:e2368-e2376, Molimard, A.,et al, 2022