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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Progressive Language Disorder Due to Lobar Atrophy
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Duchenne Muscular Dystrophy
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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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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
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Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Wilson Disease
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Huntington Disease: Clinical Features and Diagnosis
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Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
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The Limbic-Girdle Muscular Dystrophies
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Genetic Susceptibility to Stuttering
NEJM 362:750-752, Fisher,S.E. &Phil,D., 2010
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Genetic Aspects of Alzheimer Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
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