229 related articles for article (PubMed ID: 29382480)
21. Vanishing white matter disease in French-Canadian patients from Quebec.
Robinson MÈ; Rossignol E; Brais B; Rouleau G; Arbour JF; Bernard G
Pediatr Neurol; 2014 Aug; 51(2):225-32. PubMed ID: 25079571
[TBL] [Abstract][Full Text] [Related]
22. Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A; Henneke M; Brockmann K; Goerg M; Hanefeld F; Kohlschütter A; Gärtner J
Hum Mutat; 2005 Apr; 25(4):411. PubMed ID: 15776425
[TBL] [Abstract][Full Text] [Related]
23. Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
Khorrami M; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Iravani O; Yazdani V; Riahinezhad M; Kheirollahi M
J Mol Neurosci; 2021 Nov; 71(11):2405-2414. PubMed ID: 33687620
[TBL] [Abstract][Full Text] [Related]
24. An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Shimada S; Miya K; Oda N; Watanabe Y; Kumada T; Sugawara M; Shimojima K; Yamamoto T
Am J Med Genet A; 2012 Jul; 158A(7):1771-7. PubMed ID: 22678813
[TBL] [Abstract][Full Text] [Related]
25. Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
Keefe MD; Soderholm HE; Shih HY; Stevenson TJ; Glaittli KA; Bowles DM; Scholl E; Colby S; Merchant S; Hsu EW; Bonkowsky JL
Elife; 2020 Dec; 9():. PubMed ID: 33300869
[TBL] [Abstract][Full Text] [Related]
26. Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Sambati L; Agati R; Bacci A; Bianchi S; Capellari S
Neurol Sci; 2013 Jul; 34(7):1235-8. PubMed ID: 22729508
[TBL] [Abstract][Full Text] [Related]
27. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
Fogli A; Dionisi-Vici C; Deodato F; Bartuli A; Boespflug-Tanguy O; Bertini E
Neurology; 2002 Dec; 59(12):1966-8. PubMed ID: 12499492
[TBL] [Abstract][Full Text] [Related]
28. A novel missense variant in
Nourmohammadi P; Asadollahi M; Karamzade A; Eshaghkhani Y; Babaei M; Golchehre Z; Taheri SR; Hasani S; Taghizadeh M; Keramatipour M
J Genet; 2023; 102():. PubMed ID: 37674283
[TBL] [Abstract][Full Text] [Related]
29. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Fogli A; Wong K; Eymard-Pierre E; Wenger J; Bouffard JP; Goldin E; Black DN; Boespflug-Tanguy O; Schiffmann R
Ann Neurol; 2002 Oct; 52(4):506-10. PubMed ID: 12325082
[TBL] [Abstract][Full Text] [Related]
30. Leukoencephalopathy with vanishing white matter: a review.
Bugiani M; Boor I; Powers JM; Scheper GC; van der Knaap MS
J Neuropathol Exp Neurol; 2010 Oct; 69(10):987-96. PubMed ID: 20838246
[TBL] [Abstract][Full Text] [Related]
31. A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Ghezzi L; Scarpini E; Rango M; Arighi A; Bassi MT; Tenderini E; De Riz M; Jacini F; Fumagalli GG; Pietroboni AM; Galimberti D; Bresolin N
Neurology; 2012 Nov; 79(20):2077-8. PubMed ID: 23115207
[TBL] [Abstract][Full Text] [Related]
32. The spectrum of mutations for the diagnosis of vanishing white matter disease.
Scali O; Di Perri C; Federico A
Neurol Sci; 2006 Sep; 27(4):271-7. PubMed ID: 16998732
[TBL] [Abstract][Full Text] [Related]
33. Vanishing white matter disease with different faces.
Güngör G; Güngör O; Çakmaklı S; Maraş Genç H; İnce H; Yeşil G; Dilber C; Aydın K
Childs Nerv Syst; 2020 Feb; 36(2):353-361. PubMed ID: 31385086
[TBL] [Abstract][Full Text] [Related]
34. Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC; Andermann E; Niel F; Creveaux I; Boespflug-Tanguy O; Andermann F
Epilepsia; 2008 May; 49(5):910-3. PubMed ID: 18266750
[TBL] [Abstract][Full Text] [Related]
35. Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C; Moscatelli M; Farina L; Magri S; Ciano C; Scaioli V; Alverà S; Cammarata G; Bianchi-Marzoli S; Castellani M; Zito FM; Marotta G; Piacentini S; Villacara A; Mantegazza R; Gellera C; Durães J; Gouveia A; Matos A; do Carmo Macário M; Pareyson D; Taroni F; Di Bella D; Salsano E
J Neurol; 2023 Sep; 270(9):4219-4234. PubMed ID: 37171481
[TBL] [Abstract][Full Text] [Related]
36. Vanishing white matter disease associated with progressive macrocephaly.
Pineda M; R-Palmero A; Baquero M; O'Callaghan M; Aracil A; van der Knaap M; Scheper GC
Neuropediatrics; 2008 Feb; 39(1):29-32. PubMed ID: 18504679
[TBL] [Abstract][Full Text] [Related]
37. The ovarioleukodystrophy.
Mathis S; Scheper GC; Baumann N; Petit E; Gil R; van der Knaap MS; Neau JP
Clin Neurol Neurosurg; 2008 Dec; 110(10):1035-7. PubMed ID: 18678442
[TBL] [Abstract][Full Text] [Related]
38. Teaching NeuroImages: Adult-onset vanishing white matter disease.
Villar-Quiles RN; Delgado-Suárez C; Jorquera-Moya M; Arpa-Gutiérrez J; Ortega-Suero G
Neurology; 2018 Mar; 90(12):e1091-e1092. PubMed ID: 29555891
[No Abstract] [Full Text] [Related]
39. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
La Piana R; Vanderver A; van der Knaap M; Roux L; Tampieri D; Brais B; Bernard G
Arch Neurol; 2012 Jun; 69(6):765-68. PubMed ID: 22312164
[TBL] [Abstract][Full Text] [Related]
40. Dominant form of vanishing white matter-like leukoencephalopathy.
Labauge P; Fogli A; Castelnovo G; Le Bayon A; Horzinski L; Nicoli F; Cozzone P; Pagès M; Briere C; Marty-Double C; Delhaume O; Gelot A; Boespflug-Tanguy O; Rodriguez D
Ann Neurol; 2005 Oct; 58(4):634-9. PubMed ID: 16047349
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
