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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Melas Syndrome
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
Neonatal Seizures
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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Duchenne Muscular Dystrophy
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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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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Hydrocephalus in Children
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Malignant Hyperthermia, Update on Susceptibility Testing
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Treatment of Attention-Deficit-Hyperactivity Disorder
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Genetic Predisposition to Iatrogenic Creutzfeldt-Jakob Disease
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The Spongiform Encephalopathies, Editorial
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Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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The Malignant Hyperthermia Syndrome
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Familial Cavernous Angiomas
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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