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Hereditary Hemorrhagic Telangiectasia
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Ehlers-Danlos Syndromes
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Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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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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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Pediatric Leigh Syndrome
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
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Neurofibromatosis Type 2
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
Neurol 58:390-396,339, Gleissner,B.,et al, 2002
Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Trinucleotide Repeat Expansion in Neurological Disease
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Molecular Genetics in Neurology
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