321 related articles for article (PubMed ID: 24369382)
1. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M; Synofzik M; Lee J; Sagum CA; Mahajnah M; Sharkia R; Drouot N; Renaud M; Klein FA; Anheim M; Tranchant C; Mignot C; Mandel JL; Bedford M; Bauer P; Salih MA; Schüle R; Schöls L; Aldaz CM; Koenig M
Brain; 2014 Feb; 137(Pt 2):411-9. PubMed ID: 24369382
[TBL] [Abstract][Full Text] [Related]
2. A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.
Ben-Salem S; Al-Shamsi AM; John A; Ali BR; Al-Gazali L
J Mol Neurosci; 2015 May; 56(1):17-23. PubMed ID: 25403906
[TBL] [Abstract][Full Text] [Related]
3. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
Abdel-Salam G; Thoenes M; Afifi HH; Körber F; Swan D; Bolz HJ
Orphanet J Rare Dis; 2014 Jan; 9():12. PubMed ID: 24456803
[TBL] [Abstract][Full Text] [Related]
4. WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12.
Hussain T; Sanchez K; Crayton J; Saha D; Jeter C; Lu Y; Abba M; Seo R; Noebels JL; Fonken L; Aldaz CM
Prog Neurobiol; 2023 Apr; 223():102425. PubMed ID: 36828035
[TBL] [Abstract][Full Text] [Related]
5. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
Johannsen J; Kortüm F; Rosenberger G; Bokelmann K; Schirmer MA; Denecke J; Santer R
Neurogenetics; 2018 Aug; 19(3):151-156. PubMed ID: 29808465
[TBL] [Abstract][Full Text] [Related]
6. Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice.
Cheng YY; Chou YT; Lai FJ; Jan MS; Chang TH; Jou IM; Chen PS; Lo JY; Huang SS; Chang NS; Liou YT; Hsu PC; Cheng HC; Lin YS; Hsu LJ
Acta Neuropathol Commun; 2020 Jan; 8(1):6. PubMed ID: 32000863
[TBL] [Abstract][Full Text] [Related]
7. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C; Lambert L; Pasquier L; Bienvenu T; Delahaye-Duriez A; Keren B; Lefranc J; Saunier A; Allou L; Roth V; Valduga M; Moustaïne A; Auvin S; Barrey C; Chantot-Bastaraud S; Lebrun N; Moutard ML; Nougues MC; Vermersch AI; Héron B; Pipiras E; Héron D; Olivier-Faivre L; Guéant JL; Jonveaux P; Philippe C
J Med Genet; 2015 Jan; 52(1):61-70. PubMed ID: 25411445
[TBL] [Abstract][Full Text] [Related]
8. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Ullah MI; Nasir A; Ahmad A; Harlalka GV; Ahmad W; Hassan MJ; Baple EL; Crosby AH; Chioza BA
BMC Med Genet; 2018 Feb; 19(1):25. PubMed ID: 29458334
[TBL] [Abstract][Full Text] [Related]
9. W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
Elsaadany L; El-Said M; Ali R; Kamel H; Ben-Omran T
BMC Med Genet; 2016 Aug; 17(1):53. PubMed ID: 27495153
[TBL] [Abstract][Full Text] [Related]
10. West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q; Hertecant J; El-Hattab AW; Ali BR; Suleiman J
Epileptic Disord; 2018 Oct; 20(5):401-412. PubMed ID: 30361190
[TBL] [Abstract][Full Text] [Related]
11. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M; Meirson H; Michaelson-Cohen R; Beeri R; Tzur S; Bormans C; Modai S; Shomron N; Shilon Y; Banne E; Orenstein N; Konen O; Marek-Yagel D; Veber A; Shalva N; Imagawa E; Matsumoto N; Lev D; Lerman Sagie T; Raas-Rothschild A; Ben-Zeev B; Basel-Salmon L; Behar DM; Heimer G
Eur J Paediatr Neurol; 2019 May; 23(3):418-426. PubMed ID: 30853297
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
Alkhateeb AM; Aburahma SK; Habbab W; Thompson IR
Metab Brain Dis; 2016 Aug; 31(4):901-7. PubMed ID: 27121845
[TBL] [Abstract][Full Text] [Related]
13. Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene.
Su T; Yan Y; Xu S; Zhang K; Xu S
Int J Dev Neurosci; 2020 Apr; 80(2):157-161. PubMed ID: 32037574
[TBL] [Abstract][Full Text] [Related]
14. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J; Hawkes L; Milh M; Villard L; Borgatti R; Romaniello R; Fradin M; Capri Y; Héron D; Nougues MC; Nava C; Arsene OT; Shears D; Taylor J; Pagnamenta A; Taylor JC; Sogawa Y; Johnson D; Firth H; Vasudevan P; Jones G; Nguyen-Morel MA; Busa T; Roubertie A; van den Born M; Brischoux-Boucher E; Koenig M; Mignot C; ; Kini U; Philippe C
Genet Med; 2019 Jun; 21(6):1308-1318. PubMed ID: 30356099
[TBL] [Abstract][Full Text] [Related]
15. A Chinese patient with epilepsy and WWOX compound heterozygous mutations.
He J; Zhou W; Shi J; Zhang B; Wang H
Epileptic Disord; 2020 Feb; 22(1):120-124. PubMed ID: 32051108
[TBL] [Abstract][Full Text] [Related]
16. Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.
Ehaideb SN; Al-Bu Ali MJ; Al-Obaid JJ; Aljassim KM; Alfadhel M
Transl Neurosci; 2018; 9():203-208. PubMed ID: 30746283
[TBL] [Abstract][Full Text] [Related]
17. A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C; Zamba-Papanicolaou E; Middleton LT; Pantzaris M; Christodoulou K
Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
[TBL] [Abstract][Full Text] [Related]
18. Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy.
Tochigi Y; Takamatsu Y; Nakane J; Nakai R; Katayama K; Suzuki H
Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31340538
[TBL] [Abstract][Full Text] [Related]
19. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Kawarai T; Tajima A; Kuroda Y; Saji N; Orlacchio A; Terasawa H; Shimizu H; Kita Y; Izumi Y; Mitsui T; Imoto I; Kaji R
J Neurol Neurosurg Psychiatry; 2016 Jun; 87(6):656-62. PubMed ID: 26157035
[TBL] [Abstract][Full Text] [Related]
20. Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome.
Al Baradie R; Mir A; Alsaif A; Ali M; Al Ghamdi F; Bashir S; Howsawi Y
Epileptic Disord; 2022 Aug; 24(4):697-712. PubMed ID: 35792847
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
