Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Neurofibromatosis
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Lisch Nodules in Neurofibromatosis Type I
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Laboratory Diagnosis of Creutzfeldt-Jakob Disease
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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
Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Updates on Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Alzheimers Disease
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Duchenne Muscular Dystrophy
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Recurrent Cerebral Ischemia During Pregnancies
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Migraine
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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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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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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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Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples
JAMA Neurol 74:155-162,144, Bongianni, M.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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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
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Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
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