227 related articles for article (PubMed ID: 23115207)
1. 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]
2. Ovarioleukodystrophy due to EIF2B5 mutations.
Ibitoye RT; Renowden SA; Faulkner HJ; Scolding NJ; Rice CM
Pract Neurol; 2016 Dec; 16(6):496-499. PubMed ID: 27651498
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. [Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter].
Leng XR; Wu Y; Jiang YW
Sheng Li Ke Xue Jin Zhan; 2010 Apr; 41(2):125-8. PubMed ID: 21416999
[No Abstract] [Full Text] [Related]
9. [Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].
Pan YX; Wu Y; Niu ZP; Jiang YW
Beijing Da Xue Xue Bao Yi Xue Ban; 2009 Oct; 41(5):608-10. PubMed ID: 19829687
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genotype-phenotype correlation in vanishing white matter disease.
van der Lei HD; van Berkel CG; van Wieringen WN; Brenner C; Feigenbaum A; Mercimek-Mahmutoglu S; Philippart M; Tatli B; Wassmer E; Scheper GC; van der Knaap MS
Neurology; 2010 Oct; 75(17):1555-9. PubMed ID: 20975056
[TBL] [Abstract][Full Text] [Related]
12. Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C; Qin Q; Chen F; Zhou A; Wang F; Zuo X; Chen R; Lyu J; Jia J
BMC Neurol; 2019 Aug; 19(1):203. PubMed ID: 31438897
[TBL] [Abstract][Full Text] [Related]
13. Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y; Pan Y; Du L; Wang J; Gu Q; Gao Z; Li J; Leng X; Qin J; Wu X; Jiang Y
J Hum Genet; 2009 Feb; 54(2):74-7. PubMed ID: 19158808
[TBL] [Abstract][Full Text] [Related]
14. Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H; Dai L; Chen N; Zang L; Leng X; Du L; Wang J; Jiang Y; Zhang F; Wu X; Wu Y
PLoS One; 2015; 10(3):e0118001. PubMed ID: 25761052
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.
Shimada S; Shimojima K; Sangu N; Hoshino A; Hachiya Y; Ohto T; Hashi Y; Nishida K; Mitani M; Kinjo S; Tsurusaki Y; Matsumoto N; Morimoto M; Yamamoto T
Brain Dev; 2015 Nov; 37(10):960-6. PubMed ID: 25843247
[TBL] [Abstract][Full Text] [Related]
16. Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC; Proud CG
BMC Med Genet; 2015 Aug; 16():64. PubMed ID: 26285592
[TBL] [Abstract][Full Text] [Related]
17. [Leukoencephalopathy with vanishing white matter: a clinical case of adult onset].
Pato Pato A; Lorenzo González JR; Cimas Hernando I; Rodríguez-Constenla I
Neurologia; 2009 Sep; 24(7):504-5. PubMed ID: 21469262
[No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. A case of ovarioleukodystrophy without eIF2B mutations.
Gaudiano C; Di Perri C; Scali O; Rufa A; Battisti C; De Stefano N; Federico A
J Neurol Sci; 2008 May; 268(1-2):183-6. PubMed ID: 18061208
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
