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Filter Applied: genetic testing (Click to remove)

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018

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

An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011

Clinicopath Conf., Brain Abscess, Pulmonary Arteriovenous Malformation Due to Hereditary Hemorrhagic Telangiectasia
NEJM 362:1326-1333, Case 10-2010, 2010

Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019

A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019

Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014

Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012

Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Migraine and Cerebral White Matter Lesions
The Neurologist 11:19-29, Gladstone,J.P. &Dodick,D.W., 2005

New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002

A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

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

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

Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Ann Neurol 91:889-890, Gollion, C.,et al, 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
UpToDate, Oct, Bodamer,O.A., 2022

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021

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

A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020

Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020

Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020

Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020

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

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019

A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019

Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019

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

Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017

Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017

A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017

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

A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017



Showing articles 0 to 50 of 75 Next >>