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
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
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NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
Neurol 36:1424-1428, Nygaard,T.C.&Duvoisin,R.C., 1986
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
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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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Adrenoleukodystrophy
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
von Hippel-Lindau Disease
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Mental Retardation
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Niemann-Pick Disease Type C: Two Cases and an Update
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Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Advances in Molecular Analysis of Fragile X Syndrome
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Essential Tremor:Clinical Correlates in 350 Patients
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A Genetic Study of Idiopathic Focal Dystonias
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VonHippel-Lindau Disease
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