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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Genome Sequencing in the NICU and PICU is Here to Stay
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
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UpToDate, Oct, Bodamer,O.A., 2022
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Huntington Disease: Clinical Features and Diagnosis
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Red Papules on the Tongue of a Patient with Hemiparesis
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Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Mystery Case: A Young Boy with Myoclonic Jerks
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
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UpToDate, Feb, Shovlin, C., 2011
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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Epilepsy Syndromes in Infancy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Sensorineural Hearing Loss in Children
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Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
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The Neurologist 8:302-312, Thambisetty,M.,et al, 2002