Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Aicardi-Gouti�res Syndrome
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Arteriovenous Malformation Presenting as Hemidystonia
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Adult GM1-Gangliosidosis:Clinical Patterns & Rectal Biopsy
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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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
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A 6-Year-Old Girl with Progressive Toe Walking
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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A Young Man with Progressive Vision and Hearing Loss
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
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
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Update on Blepharospasm: Report from the BEBRF International Workshop
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Dystonia
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The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Mental Retardation
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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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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Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
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Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
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
A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Non-Progressive Familial Idiopathic Intracranial Calcification:A Family Report
JNNP 59:432-434, Callender,J.S., 1995
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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