Physical Features of Prader-Willi Syndrome in Neonates
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Congenital Inflammatory Myopathy
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Rett Syndrome:Natural History and Management
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Neurologic and Cognitive Deficits in Children with Cystinosis
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Central Core Disease, Clinical Features in 13 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Alternating Hemiplegia of Childhood
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Coffin-Siris Syndrome, Neuropathologic Findings
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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The Cerebrohepatorenal (Zellweger) Syndrome
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The Causes of Cerebral Palsy
JAMA 247:1473-1477, Holm,V.A., 1982
Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Biotin Deficiency:An Unusual Complication Of Parenteral Alimentation
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Neurological Manifestation of Accidental Hypothermia
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Congenital Myotonic Dystrophy
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Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
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Neonatal Myasthenia Gravis in the Infant of a Myasthenic Mother in Remission
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Glycine Encephalopathy
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Hyperphenylalaninemia Due To A Deficiency of Biopterin
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Adverse Effects on Offspring of Maternal Alcohol Abuse During Pregnancy
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Important Advances in Clinical Medicine
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Polymyalgia Rheumatica & Giant Cell Arteritis
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Lumbosacral Radiculomyelitis Assoc with Pandemic Acute Hemorrhagic Conjunctivitis
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Congenital Dystrophia Myotonica
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The Neuropathy of Acute Intermittent Porphyria
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Progressive Quadriparesis and Falls in a 66-Year-Old Man With Longstanding Human Immunodeficiency Virus
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A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
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A 35-Year-Old Patient with Rapidly Progressive Ascending Weakness Leading to Loss of Brainstem Reflexes
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A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,et al, 2026
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
A 5-Year-Old Boy with Subacute and Refractory Myoclonus
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Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Atypical Diabetic Neuropathies
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