Whipples Disease
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Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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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
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Alzheimer Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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The Prevention of Neurogenetic Disease
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Mitochondrial DNA and Disease
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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CAG Repeat Size and Clinical Presentation in Huntington's Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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The Nondystrophic Myotonias
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Molecular Genetics in Neurology
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Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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