242 related articles for article (PubMed ID: 12325082)
1. 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]
2. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA; Vermeulen G; Könst AA; Naidu S; Mulders J; Visser A; Kersbergen P; Mobach D; Fonds D; van Berkel CG; Lemmers RJ; Frants RR; Oudejans CB; Schutgens RB; Pronk JC; van der Knaap MS
Nat Genet; 2001 Dec; 29(4):383-8. PubMed ID: 11704758
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. The large spectrum of eIF2B-related diseases.
Fogli A; Boespflug-Tanguy O
Biochem Soc Trans; 2006 Feb; 34(Pt 1):22-9. PubMed ID: 16246171
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K; Tsuyusaki Y; Sato M; Takagi M; Anzai R; Okuda M; Iai M; Yamashita S; Okabe T; Aida N; Tsurusaki Y; Saitsu H; Matsumoto N; Osaka H
Brain Dev; 2015 Jun; 37(6):638-42. PubMed ID: 25457085
[TBL] [Abstract][Full Text] [Related]
8. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Fogli A; Schiffmann R; Hugendubler L; Combes P; Bertini E; Rodriguez D; Kimball SR; Boespflug-Tanguy O
Eur J Hum Genet; 2004 Jul; 12(7):561-6. PubMed ID: 15054402
[TBL] [Abstract][Full Text] [Related]
9. Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.
Damon-Perriere N; Menegon P; Olivier A; Boespflug-Tanguy O; Niel F; Creveaux I; Dousset V; Brochet B; Goizet C
Clin Neurol Neurosurg; 2008 Dec; 110(10):1068-71. PubMed ID: 18845387
[TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].
Pronk JC; Leegwater PA; van der Knaap MS
Ned Tijdschr Geneeskd; 2002 Oct; 146(41):1933-6. PubMed ID: 12404908
[TBL] [Abstract][Full Text] [Related]
11. Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.
Horzinski L; Gonthier C; Rodriguez D; Scherer C; Boespflug-Tanguy O; Fogli A
Ann Hum Genet; 2008 May; 72(Pt 3):410-5. PubMed ID: 18294360
[TBL] [Abstract][Full Text] [Related]
12. Vanishing white matter disease: a review with focus on its genetics.
Pronk JC; van Kollenburg B; Scheper GC; van der Knaap MS
Ment Retard Dev Disabil Res Rev; 2006; 12(2):123-8. PubMed ID: 16807905
[TBL] [Abstract][Full Text] [Related]
13. Arg113His mutation of vanishing white matter is not present in multiple sclerosis.
Lucas M; Suarez R; Marcos A; Solano F; Venegas A; Garcia-Sanchez MI; Ortiz L; Izquierdo G
Mult Scler; 2007 Apr; 13(3):424-7. PubMed ID: 17439913
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
Labauge P; Horzinski L; Ayrignac X; Blanc P; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Sèze J; Fogli A; Boespflug-Tanguy O
Brain; 2009 Aug; 132(Pt 8):2161-9. PubMed ID: 19625339
[TBL] [Abstract][Full Text] [Related]
16. [Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C; Horzinski L; Ayrignac X; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Seze J; Sedel F; Guennoc AM; Sartori E; Laplaud D; Antoine JC; Fogli A; Boespflug-Tanguy O; Labauge P
Rev Neurol (Paris); 2011 Nov; 167(11):802-11. PubMed ID: 21676421
[TBL] [Abstract][Full Text] [Related]
17. [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P; Fogli A; Niel F; Rodriguez D; Boespflug-Tanguy O
Rev Neurol (Paris); 2007 Sep; 163(8-9):793-9. PubMed ID: 17878805
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A; Schiffmann R; Bertini E; Ughetto S; Combes P; Eymard-Pierre E; Kaneski CR; Pineda M; Troncoso M; Uziel G; Surtees R; Pugin D; Chaunu MP; Rodriguez D; Boespflug-Tanguy O
Neurology; 2004 May; 62(9):1509-17. PubMed ID: 15136673
[TBL] [Abstract][Full Text] [Related]
20. A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.
Geva M; Cabilly Y; Assaf Y; Mindroul N; Marom L; Raini G; Pinchasi D; Elroy-Stein O
Brain; 2010 Aug; 133(Pt 8):2448-61. PubMed ID: 20826436
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
