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Filter Applied: gene mutation (Click to remove)

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014

Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

Primary CNS T-Cell Lymphomas: A Clinical, Morphologic, Immonophenotypic and Molecular Analysis
Am J Surg Pathol 39:1719-1729, Menon, M.P.,et al, 2015

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

Intracranial Neoplasms and Paraneoplastic Disorders, Oligodendroglioma
Adams & Victors Principles of Neurology, Chp 31, pg 654, Ropper, A.H.,et al, 2014

Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
Adams & Victors Principles of Neurology, Chp 31, pg 656, Ropper, A.H.,et al, 2014

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009

Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
Neurol 69:1366-1373, Schiff,D.,et al, 2007

Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
JNNP 75:1463-1466, Jin,K.,et al, 2004

Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003

Expression of p53 and Prognosis in Children With Malignant Gliomas
NEJM 346:420-427, Pollack,I.F.,et al, 2002

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 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

Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020

Spinal Xanthomatosis
Neurol 95:e1615-e1616, Valencia-Sanchez, C.,et al, 2020

Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019

CRAO and Silent Brain Infarcts caused by Cardiac Myxomas in Carney Complex
Neurol 92:e286-e287, Huang, L-T.,et al, 2019

A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018

Wilson Disease
NIDDK Oct2018, , 2018

Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018

Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017

Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016

Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015

A Case of Refractory Nocturnal Seizures
Neurol 84:e134-e136, Pavlakis, P.P. & Douglass, L.M., 2015



Showing articles 0 to 50 of 77 Next >>