Huntington Disease: Clinical Features and Diagnosis
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Sydenham Chorea
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Glycogen-Storage Disease Type II
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995
Early Severe Infantile Botulism
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985