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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Aicardi-Gouti�res Syndrome
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Monomelic Amyotrophy
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 42-year-old man with unilateral leg weakness
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Neuromyelitis Optica Spectrum Disorders
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Familial Neuromyelitis Optica
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Spinal Muscular Atrophy
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Primary Brain Tumours in Adults
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Familial Neuromyelitis Optica (Devics Syndrome) with Late Onset in Japan
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
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Cervical Dystonia:Clinical Findings and Associated Movement Disorders
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Brain Tumors
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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Familial Cavernous Malformations of the Central Nervous System & Retina
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Acid Maltase Deficiency
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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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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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