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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Familial Periodic Ataxia
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Juvenile Diabetes Mellitus & Optic Atrophy
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Niemann-Pick Type C Disease
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The Spectrum of Fragile X Disorders
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Duchenne Muscular Dystrophy
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Ehlers-Danlos Syndromes
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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An Unusual Fundus Finding in a Teenage Girl
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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