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Mitochondrial DNA and Genetic Disease
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Juvenile Diabetes Mellitus & Optic Atrophy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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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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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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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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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
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Neurofibromatosis Type 2
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Sensorineural Hearing Loss in Children
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Niemann-Pick Disease Type C: Two Cases and an Update
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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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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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Cerebrovascular Complications of Fabry's Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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