210 related articles for article (PubMed ID: 14572143)
1. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA; Pronk JC; van der Knaap MS
J Child Neurol; 2003 Sep; 18(9):639-45. PubMed ID: 14572143
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap MS; Leegwater PA; Könst AA; Visser A; Naidu S; Oudejans CB; Schutgens RB; Pronk JC
Ann Neurol; 2002 Feb; 51(2):264-70. PubMed ID: 11835386
[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. 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]
9. 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]
10. 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]
11. [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]
12. Vanishing white matter disease in a child presenting with ataxia.
Wilson CJ; Pronk JC; Van der Knaap MS
J Paediatr Child Health; 2005; 41(1-2):65-7. PubMed ID: 15670229
[TBL] [Abstract][Full Text] [Related]
13. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
Ohtake H; Shimohata T; Terajima K; Kimura T; Jo R; Kaseda R; Iizuka O; Takano M; Akaiwa Y; Goto H; Kobayashi H; Sugai T; Muratake T; Hosoki T; Shioiri T; Okamoto K; Onodera O; Tanaka K; Someya T; Nakada T; Tsuji S
Neurology; 2004 May; 62(9):1601-3. PubMed ID: 15136690
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. 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]
16. Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.
Woody AL; Hsieh DT; McIver HK; Thomas LP; Rohena L
Am J Med Genet A; 2015 Apr; 167A(4):826-30. PubMed ID: 25758335
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H; van der Knaap MS; Scheper GC; Jurkiewicz E; Schmidt-Sidor B; Szymańska K
Folia Neuropathol; 2006; 44(2):144-8. PubMed ID: 16823698
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]