Mendelian Etiologies of Stroke
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A 14-Year-Old Girl with Headache, Seizures, and Confusion
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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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Neuromyelitis Optica Spectrum Disorders
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Cerebral Amyloid Angiopathy
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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Spinal Muscular Atrophy
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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Recurrent Acroparaesthesia During Febrile Infections
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Primary Brain Tumours in Adults
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von Hippel-Lindau Disease
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Amyotrophic Lateral Sclerosis
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Hereditary Upper Limb Muscular Atrophy
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Factor V Leiden Mutation is a Risk Factor for Cerebral Venous Thrombosis,A Case-Control Study of 55 Patients
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Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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CT and MR Findings of Neuroacanthocytosis
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
X-Linked Malformation of Neuronal Migration
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Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Periventricular Heterotopia and Epilepsy
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Superoxide Dismutase and ALS
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Monomelic Amyotrophy
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
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Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Clinicopath Conf
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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