189 related articles for article (PubMed ID: 35971119)
1. Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Høyer H; Busk ØL; Esbensen QY; Røsby O; Hilmarsen HT; Russell MB; Nyman TA; Braathen GJ; Nilsen HL
BMC Neurol; 2022 Aug; 22(1):299. PubMed ID: 35971119
[TBL] [Abstract][Full Text] [Related]
2. Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ; Nam DE; Choi YJ; Nam SH; Choi BO; Chung KW
Genes Genomics; 2020 Jun; 42(6):663-672. PubMed ID: 32314272
[TBL] [Abstract][Full Text] [Related]
3. Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
Nam DE; Park JH; Park CE; Jung NY; Nam SH; Kwon HM; Kim HS; Kim SB; Son WS; Choi BO; Chung KW
J Peripher Nerv Syst; 2022 Mar; 27(1):38-49. PubMed ID: 34813128
[TBL] [Abstract][Full Text] [Related]
4. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
5. A missense, loss-of-function
Forrest ME; Meyer AP; Laureano Figueroa SM; Antonellis A
Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36307205
[TBL] [Abstract][Full Text] [Related]
6. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM; Sakaguchi R; Giblin W; ; Wilson TE; Biesecker L; Lupski JR; Talbot K; Vance JM; Züchner S; Lee YC; Kennerson M; Hou YM; Nicholson G; Antonellis A
Hum Mutat; 2012 Jan; 33(1):244-53. PubMed ID: 22009580
[TBL] [Abstract][Full Text] [Related]
7. A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Meyer-Schuman R; Marte S; Smith TJ; Feely SME; Kennerson M; Nicholson G; Shy ME; Koutmou KS; Antonellis A
Hum Mol Genet; 2023 Jun; 32(13):2177-2191. PubMed ID: 37010095
[TBL] [Abstract][Full Text] [Related]
8. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Latour P; Thauvin-Robinet C; Baudelet-Méry C; Soichot P; Cusin V; Faivre L; Locatelli MC; Mayençon M; Sarcey A; Broussolle E; Camu W; David A; Rousson R
Am J Hum Genet; 2010 Jan; 86(1):77-82. PubMed ID: 20045102
[TBL] [Abstract][Full Text] [Related]
9.
Morant L; Erfurth ML; Jordanova A
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680913
[TBL] [Abstract][Full Text] [Related]
10. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ; Kuo M; Kenter SB; Gordillo S; Karjosukarso DW; Takase R; Bronk M; Oprescu S; van Ruissen F; Witteveen RJW; Bienfait HME; Breuning M; Verhamme C; Hou YM; de Visser M; Antonellis A; Baas F
Hum Mol Genet; 2018 Dec; 27(23):4036-4050. PubMed ID: 30124830
[TBL] [Abstract][Full Text] [Related]
11. The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase.
Memezawa S; Sato T; Ochiai A; Fukawa M; Sawaguchi S; Sango K; Miyamoto Y; Yamauchi J
Neurochem Res; 2022 Sep; 47(9):2684-2702. PubMed ID: 35380399
[TBL] [Abstract][Full Text] [Related]
12. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
[TBL] [Abstract][Full Text] [Related]
13. Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
Mullen P; Abbott JA; Wellman T; Aktar M; Fjeld C; Demeler B; Ebert AM; Francklyn CS
FEBS J; 2021 Jan; 288(1):142-159. PubMed ID: 32543048
[TBL] [Abstract][Full Text] [Related]
14. Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.
Braathen GJ; Høyer H; Busk ØL; Tveten K; Skjelbred CF; Russell MB
Acta Neurol Scand; 2016 Jul; 134(1):67-75. PubMed ID: 26517670
[TBL] [Abstract][Full Text] [Related]
15. Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Setlere S; Jurcenko M; Gailite L; Rots D; Kenina V
Neurol Genet; 2022 Oct; 8(5):e200019. PubMed ID: 36092982
[TBL] [Abstract][Full Text] [Related]
16. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
Ermanoska B; Motley WW; Leitão-Gonçalves R; Asselbergh B; Lee LH; De Rijk P; Sleegers K; Ooms T; Godenschwege TA; Timmerman V; Fischbeck KH; Jordanova A
Neurobiol Dis; 2014 Aug; 68():180-9. PubMed ID: 24807208
[TBL] [Abstract][Full Text] [Related]
17. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Fay A; Garcia Y; Margeta M; Maharjan S; Jürgensen C; Briceño J; Garcia M; Yin S; Bassaganyas L; McMahon T; Hou YM; Fu YH; Ptáček LJ
Ann Neurol; 2020 Oct; 88(4):830-842. PubMed ID: 32715519
[TBL] [Abstract][Full Text] [Related]
18. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Griffin LB; Sakaguchi R; McGuigan D; Gonzalez MA; Searby C; Züchner S; Hou YM; Antonellis A
Hum Mutat; 2014 Nov; 35(11):1363-71. PubMed ID: 25168514
[TBL] [Abstract][Full Text] [Related]
19. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
Zhao Z; Hashiguchi A; Hu J; Sakiyama Y; Okamoto Y; Tokunaga S; Zhu L; Shen H; Takashima H
Neurology; 2012 May; 78(21):1644-9. PubMed ID: 22573628
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
