Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Retinitis Pigmentosa
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Sturge-Weber Syndrome
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Angelman Syndrome Revisited
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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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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Mucolipidosis Type IV; Characteristic MRI Findings
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Bilirubin Metabolism and Kernicterus
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The Epilepsy of Trisomy 9p
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Startle Provoked Epileptic Seizures:Features in 19 Patients
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Arginase Deficiency Presenting as Cerebral Palsy
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Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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Epidermal Nevus Synd:A Neurologic Variant with Hemimegalencephaly, Gyral Malf, Mental Retard, Seizures & Facial Hemihyper
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
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The Sequelae of Haemophilus Influenzae Meningitis in School-Age Children
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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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Encephalotrigeminal Angiomatosis
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Unclear Speech:Recognition & Significance of Unintelligible Speech in Preschool Children
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Diagnostic Criteria for Rett Syndrome
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Rett Syndrome:Natural History and Management
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Neurological Manifestations in Xeroderma Pigmentosum
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Neurologic Manifestations of the Organoid Nevus Syndrome
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Alexander's Disease, A Disease of Astrocytes
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The Child Who is Slow to Talk
BMJ 285:671-672, Robinson,R.J., 1982
Prognostic Indicators in Hemiparetic Cerebral Palsy
Ann Neurol 9:353-357, Cohen,M.E.,et al, 1981
Juvenile Metachromatic Leukodystrophy
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Kearns-Sayre Syndrome with Hypoparathyroidism
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Familial Chorea & Myoclonus Epilepsy
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School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
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The Thyroid Gland:Its Relationship to Neurology
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Genetic Counseling in Retinitis Pigmentosa
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