A 23-Year-Old Man With Seizures and Visual Deficit
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
NEJM 375:2381-2389, Case 38-206, 2016
A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Diagnosis and New Treatment in Muscle Channelopathies
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Tuberous Sclerosis
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
Neurol 69:1366-1373, Schiff,D.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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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
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Primary Brain Tumours in Adults
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Pediatric Leigh Syndrome
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Muscular Dystrophies
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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
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
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Neurofibromatosis Type 2
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Whipples Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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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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Alzheimer Disease
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Clinical and Genetic Aspects of Distal Myopathies
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Genetics in Neurological Disease
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Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
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Myotonic Dystrophy
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The Nondystrophic Myotonias
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
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