Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Zika Virus Associated with Microcephaly
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
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
NEJM 373:154-162, Hoffmann, B.,et al, 2015
The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009
Neurofibromatosis Type 2
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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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
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
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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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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004
Aromatic L-Amino Acid Decarboxylase Deficiency
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Gene Transfer for Neurologic Disease
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Alzheimer's Disease and Parkinson's Disease
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von Hippel-Lindau Disease
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The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002
Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Clinical and Genetic Aspects of Distal Myopathies
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The Brain Code in Health and Disease
Arch Neurol 57:50-51, Rosenberg,R.N., 2000
Hereditary Spastic Paraparesis: A Review of New Developments
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What Level of Care for the Neurofibromatoses?
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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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The Genetics of Alzheimer Disease, Current Status and Future Prospects
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Prader-Willi and Angelman Syndromes
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