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Showing articles 0 to 34 of 34

Filter Applied: genetic testing (Click to remove)

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

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

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

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

Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series
AJNR 31: 1418-1423, Harder,S.,et al, 2010

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

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

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

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

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

Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

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

Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008

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

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

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

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

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

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

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

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

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

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

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

Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
Neuropsych Dis Treat 13:2175-2179, Wang,J.,et al, 2017

Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015

Clinicopath Conf, Von Hippel Lindau Disease, Adrenal Pheochromocytoma, Brain-Stem and Spinal Cord Hemangioblastoma
NEJM 355:394-402, Case 23-2006, 2006

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

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



Showing articles 0 to 34 of 34