Familial Nonprogressive Involuntary Movements of Childhood
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Hereditary Chorea Without Dementia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Neurodegeneration with Brain Iron Accumulation
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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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
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
Niemann-Pick Disease Type C: Two Cases and an Update
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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The Prevention of Neurogenetic Disease
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
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Molecular Genetics in Neurology
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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
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
Ann Neurol 29:469-473, Ryan,S.G.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Problems in Genetic Prediction for Huntington's Disease
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Uptake of Presymptomatic Predictive Testing for Huntington's Disease
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Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
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DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 1988
Characterization of Dystrophin in Muscle-Biopsy Spec from Pts with Duchenne's or Becker's Muscular Dystrophy
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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