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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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The Oculopharyngeal Syndrome
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
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Supranuclear Gaze Palsy in Familial Creutzfeldt-Jakob Disease
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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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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 42-year-old man with unilateral leg weakness
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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A Child with Delayed Motor Milestones and Ptosis
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Neuromyelitis Optica Spectrum Disorders
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Degenerative Diseases of the Nervous System, Familial Dementia with Spastic Paraparesis
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Neurologic Manifestations of von Hippel-Lindau Disease
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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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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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The Hereditary Spastic Paraplegias
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Familial Amyotrophic Lateral Sclerosis
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Jaw Drop in Kennedy's Disease
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Amyotrophic Lateral Sclerosis
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Hereditary Spastic Paraparesis: A Review of New Developments
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
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Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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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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Niemann-Pick Disease Type C from Bench to Bedside
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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