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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
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NEJM 376:972-980, Case 7-2017, 2017
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Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Adrenoleukodystrophy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
Neurol 51:1039-1045, Seale,C.G.,et al, 1998
Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
Neurol 51:944-948, Rpt of the Quality Stnds Subcmte AAN, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
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A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Epilepsy in Pregnancy
BMJ 335:769-774, Tomson,T. &Hiilesmaa,V., 2007
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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Sensorineural Hearing Loss in Children
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Friedreich Ataxia
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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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The Muscular Dystrophies
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
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Apolipoprotein E Genotyping in Alzheimer's Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Hereditary Spastic Paraplegia:Advances in Genetic Research
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Practice Parameter:Genetic Testing Alert
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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