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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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The Spectrum of Fragile X Disorders
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Hematologic Disorders and Ischemic Stroke
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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RNF213 Polymorphisms in Intracranial Artery Dissection
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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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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Neonatal Seizures
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Thyrotoxic Periodic Paralysis
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Genetics of Cluster Headache Takes a Leap
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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