Angelman Syndrome Revisited
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Prader-Willi and Angelman Syndromes
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Angelman Syndrome: Clinical Profile
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Rett Syndrome:Natural History and Management
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Juvenile Metachromatic Leukodystrophy
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Familial Chorea & Myoclonus Epilepsy
Neurol 28:913-919, Takahata,N.,et al, 1978
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Sturge-Weber Syndrome
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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
Neurol 73:887-897, Ashwal,S.,et al, 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Phenylketonuria
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The Tuberous Sclerosis Complex
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Arginase Deficiency Presenting as Cerebral Palsy
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Hypomelanosis of Ito
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Causal Heterogeneity in Isolated Lissencephaly
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Twinning and Neurologic Morbisity
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Diagnostic Criteria for Rett Syndrome
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Retinitis Pigmentosa
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Neurological Manifestations in Xeroderma Pigmentosum
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Clinicopath Conf
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Neurological Findings in Patients with the Fragile-X Syndrome
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Alexander's Disease, A Disease of Astrocytes
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Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Fragile X Chromosome & X-Linked Mental Retardation
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Clinical & Biochemical Aspects of Trichopoliodystrophy
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The Thyroid Gland:Its Relationship to Neurology
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