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Showing articles 0 to 18 of 18

Filter Applied: genetic neurologic disorders (Click to remove)

Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024

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

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

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

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

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013

MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008

Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007

X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996

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

Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992

Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982



Showing articles 0 to 18 of 18