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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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The Autosomal Recessive Cerebellar Ataxias
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Neurofibromatosis Type 2
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
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Molecular Genetics in Neurology
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Ehlers-Danlos Syndromes
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Zika Virus Associated with Microcephaly
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Intracranial Neoplasms and Paraneoplastic Disorders
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Spinal Muscular Atrophy A Timely Review
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Fragile X Premutation With Atypical Symptoms at Onset
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The Tuberous Sclerosis Complex
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Unusual Variants of Alexander's Disease
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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von Hippel-Lindau Disease
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Molecular Basis of the Neurodegenerative Disorders
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
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Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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