A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Neurofibromatosis Type 2
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
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Juvenile Diabetes Mellitus & Optic Atrophy
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Niemann-Pick Type C Disease
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Melas Syndrome
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Bilateral Hearing Loss and Constricted Visual Fields
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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The Limbic-Girdle Muscular Dystrophies
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
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Neurologic Manifestations of von Hippel-Lindau Disease
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Sensorineural Hearing Loss in Children
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Mucolipidosis Type IV; Characteristic MRI Findings
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Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Myotonic Dystrophy
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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Hyperostosis Cranialis Interna
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