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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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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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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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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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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A Genetic Risk Factor for Periodic Limb Movements in Sleep
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GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Niemann-Pick Disease Type C: Two Cases and an Update
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Diagnosis and Treatment of Wilson's Disease
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Tourette Syndrome:Update and Review of the Literature
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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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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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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
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Tourette's Syndrome:Current Concepts
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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