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Emery-Dreifuss Muscular Dystrophy
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Obstructive Sleep Apnea in Family Members
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Ears of the Lynx Magnetic Resonance Imaging Sign
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Complex Ataxia
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Muscular Dystrophies
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Neonate with Micrognathia and Hypotonia
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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The Limbic-Girdle Muscular Dystrophies
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Spinal Muscular Atrophy A Timely Review
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Decoding Cryptogenic Cardioembolism
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Amyotrophic Lateral Sclerosis
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Glycogen-Storage Disease Type II
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
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Malignant Hyperthermia, Update on Susceptibility Testing
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Hereditary Spastic Paraplegia
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