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Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Cerebrovascular Complications of Fabry's Disease
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Hereditary Hemorrhagic Telangiectasia
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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A Young Man with Progressive Vision and Hearing Loss
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Red Papules on the Tongue of a Patient with Hemiparesis
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Metabolic Disease and Stroke: MELAS
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Cerebral Cavernous Malformations:Incidence and Familial Occurrence
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Neurological Manifestations in Xeroderma Pigmentosum
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Cockayne Syndrome
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Agenesis of the Corpus Callosum
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Enlarged Cerebral Ventricular System in Infant Achondroplastic Dwarf
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Familial Cavernous Angiomas
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The Lissencephaly, (Agyria) Syndrome in Siblings
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Multivessel Cerebral Occlusion in Noonan Syndrome
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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