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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Creutzfeldt-Jakob Disease in a Young Woman
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Angelman Syndrome: Clinical Profile
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Hypomelanosis of Ito:Association with a Chromosomal Abnormality
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurodegeneration with Brain Iron Accumulation
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Huntington Disease: Clinical Features and Diagnosis
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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Causal Heterogeneity in Isolated Lissencephaly
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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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The Lissencephaly, (Agyria) Syndrome in Siblings
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Neurologic Manifestations of von Hippel-Lindau Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
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