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Teratogenic Effect of Anticonvulsnats
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Maternal Epilepsy & Abnormalities of the Fetus & Newborn
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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Neonatal Seizures
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Duchenne Muscular Dystrophy
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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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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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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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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A Case of Refractory Nocturnal Seizures
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Sturge-Weber Syndrome
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Sturge-Weber Syndrome
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Dystonia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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Treatment of Attention-Deficit-Hyperactivity Disorder
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Diagnosis and Treatment of Wilson's Disease
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Parkinson's Disease
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Clinicopath Conf
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Niemann-Pick Disease Type C from Bench to Bedside
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Hereditary Hemorrhagic Telangiectasia
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Wilson Disease
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Wilson's Disease:Current Status
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Genetic Predisposition to Iatrogenic Creutzfeldt-Jakob Disease
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The Spongiform Encephalopathies, Editorial
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Neurologic Crises in Hereditary Tyrosinemia
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Homing in on Wilson's Disease
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Retinitis Pigmentosa
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
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Diagnosis of Treatable Wilson's Disease
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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Epidemiology of Motor-Neuron Diseases
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