Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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The Autosomal Recessive Cerebellar Ataxias
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Cognitive Delay in a 7-year-old Girl
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Congenital Inflammatory Myopathy
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Rett Syndrome:Natural History and Management
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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The Neuropathy of Acute Intermittent Porphyria
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