345 related articles for article (PubMed ID: 32062132)
1. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
Ma Y; Zhang H; Li X; Yang X; Li Y; Guan J; Lv Y; Gai Z; Liu Y
Stem Cell Res; 2020 Mar; 43():101729. PubMed ID: 32062132
[TBL] [Abstract][Full Text] [Related]
2. An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene.
Ma Y; Zhang H; Zhang S; Dong R; Yang X; Li Y; Guan J; Gai Z; Liu Y
Stem Cell Res; 2019 Dec; 41():101577. PubMed ID: 31648101
[TBL] [Abstract][Full Text] [Related]
3. An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Zhang H; Ma Y; Li X; Yang X; Li Y; Guan J; Dong R; Gai Z; Liu Y
Stem Cell Res; 2019 Dec; 41():101585. PubMed ID: 31775088
[TBL] [Abstract][Full Text] [Related]
4. Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.
Ma Y; Zhang H; Yang X; Li Y; Guan J; Lv Y; Li H; Liu Y; Gai Z
Stem Cell Res; 2019 Oct; 40():101559. PubMed ID: 31526942
[TBL] [Abstract][Full Text] [Related]
5. Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
Gajda A; Horváth E; Hortobágyi T; Gergev G; Szabó H; Farkas K; Nagy N; Széll M; Sztriha L
J Child Neurol; 2015 Apr; 30(5):627-30. PubMed ID: 24056153
[TBL] [Abstract][Full Text] [Related]
6. An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.
Zhang H; Ma Y; Lv Y; Wan Y; Zhao Q; Gai Z; Liu Y
Stem Cell Res; 2020 May; 45():101775. PubMed ID: 32272370
[TBL] [Abstract][Full Text] [Related]
7. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
Ottenheijm CA; Buck D; de Winter JM; Ferrara C; Piroddi N; Tesi C; Jasper JR; Malik FI; Meng H; Stienen GJ; Beggs AH; Labeit S; Poggesi C; Lawlor MW; Granzier H
Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096
[TBL] [Abstract][Full Text] [Related]
8. A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
Tsunoda K; Yamashita T; Motokura E; Takahashi Y; Sato K; Takemoto M; Hishikawa N; Ohta Y; Nishikawa A; Nishino I; Abe K
J Neurol Sci; 2017 Feb; 373():254-257. PubMed ID: 28131200
[No Abstract] [Full Text] [Related]
9. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Vallejo-Diez S; Fleischer A; Martín-Fernández JM; Sánchez-Gilabert A; Bachiller D
Stem Cell Res; 2018 Dec; 33():180-184. PubMed ID: 30408744
[TBL] [Abstract][Full Text] [Related]
10. Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Laitila JM; McNamara EL; Wingate CD; Goullee H; Ross JA; Taylor RL; van der Pijl R; Griffiths LM; Harries R; Ravenscroft G; Clayton JS; Sewry C; Lawlor MW; Ottenheijm CAC; Bakker AJ; Ochala J; Laing NG; Wallgren-Pettersson C; Pelin K; Nowak KJ
Acta Neuropathol Commun; 2020 Feb; 8(1):18. PubMed ID: 32066503
[TBL] [Abstract][Full Text] [Related]
11. Derivation of NEM2 affected human embryonic stem cell line Genea078.
Dumevska B; Main H; McKernan R; Goel D; Schmidt U
Stem Cell Res; 2016 Mar; 16(2):427-9. PubMed ID: 27346006
[TBL] [Abstract][Full Text] [Related]
12. Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi004-A) from a patient with Congenital Nemaline Myopathy.
Wang Y; Liu W; Yang Y; Wang Y; Tang Y; Zhan Z; Sun X; Jiao Y; Shan D; Zhang R; Wang D; Sun P; Sun X; Yan C; Liu F
Stem Cell Res; 2024 Jun; 77():103435. PubMed ID: 38733812
[TBL] [Abstract][Full Text] [Related]
13. Derivation of NEM2 affected human embryonic stem cell line Genea080.
Dumevska B; McKernan R; Goel D; Schmidt U
Stem Cell Res; 2016 Mar; 16(2):443-5. PubMed ID: 27346011
[TBL] [Abstract][Full Text] [Related]
14. Derivation of NEM2 affected human embryonic stem cell line Genea079.
Dumevska B; McKernan R; Goel D; Schmidt U
Stem Cell Res; 2016 Mar; 16(2):440-2. PubMed ID: 27346010
[TBL] [Abstract][Full Text] [Related]
15. Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Houweling PJ; Coles CA; Tiong CF; Nielsen B; Graham A; McDonald P; Suter A; Piers AT; Forbes R; Ryan MM; Howden SE; Lamandé SR; North KN
Stem Cell Res; 2021 Jul; 54():102429. PubMed ID: 34157503
[TBL] [Abstract][Full Text] [Related]
16. Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene.
Zhang H; Liu C; Ma Y; Lin L; Lv Y; Gao M; Gai Z; Liu Y
Stem Cell Res; 2021 May; 53():102331. PubMed ID: 33882394
[TBL] [Abstract][Full Text] [Related]
17. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
Telfer WR; Nelson DD; Waugh T; Brooks SV; Dowling JJ
Dis Model Mech; 2012 May; 5(3):389-96. PubMed ID: 22159874
[TBL] [Abstract][Full Text] [Related]
18. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Karimi E; Gohlke J; van der Borgh M; Lindqvist J; Hourani Z; Kolb J; Cossette S; Lawlor MW; Ottenheijm C; Granzier H
Acta Neuropathol; 2024 Apr; 147(1):72. PubMed ID: 38634969
[TBL] [Abstract][Full Text] [Related]
19. Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations.
Wang X; Zhang H; Wang X; Zhou W; Dong L; Li N; He Q
Stem Cell Res; 2023 Oct; 72():103217. PubMed ID: 37788557
[TBL] [Abstract][Full Text] [Related]
20. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Gartz M; Haberman M; Sutton J; Slick RA; Luttrell SM; Mack DL; Lawlor MW
Exp Cell Res; 2023 Mar; 424(2):113507. PubMed ID: 36796746
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
