Muscular Dystrophies
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Molecular Genetics in Neurology
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Mitochondrial DNA and Disease
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Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders
Adams & Victors Principles of Neurology, Chp 31, pg 639, Ropper, A.H.,et al, 2014
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
Ann Neurol 65:257-267,235, Yao,K.,et al, 2009
Neurofibromatosis Type 2
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Whipples Disease
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
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CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Hereditary Hemorrhagic Telangiectasia
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Human Prion Diseases
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Brief Report:Diagnosis of Whipple's Disease by Molecular Analysis of Peripheral Blood
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Gene Therapy for Neurologic Disease
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Prion Dementia Without Characteristic Pathology
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Inherited Human Prion Diseases
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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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Aromatic L-Amino Acid Decarboxylase Deficiency
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Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Clinical and Genetic Aspects of Distal Myopathies
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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The Muscular Dystrophies
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Investigation of Muscle Disease
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The Prevention of Neurogenetic Disease
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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The Nondystrophic Myotonias
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
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Unstable DNA Sequence in Myotonic Dystrophy
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Clinicopath Conf
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Prevalence and Incidence of Becker Muscular Dystrophy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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