Similar articles for PMID: 28554942

Year	Number of Results
1985	1
1988	1
1990	1
2000	2
2003	4
2005	2
2007	2
2008	1
2012	2
2013	3
2014	2
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2016	8
2017	8
2018	11
2019	14
2020	4
2021	3
2022	4
2024	0

1

MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.

Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, Molnar MJ, Hajnóczky G. Gal A, et al. EMBO Mol Med. 2017 Jul;9(7):967-984. doi: 10.15252/emmm.201607058. EMBO Mol Med. 2017. PMID: 28554942 Free PMC article.

2

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Nasca A, et al. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28544275 Free PMC article.

3

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.

Nasca A, Di Meo I, Fellig Y, Saada A, Elpeleg O, Ghezzi D, Edvardson S. Nasca A, et al. J Hum Genet. 2021 Aug;66(8):835-840. doi: 10.1038/s10038-020-00897-4. Epub 2021 Feb 22. J Hum Genet. 2021. PMID: 33612823

4

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.

Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R. Schultz-Rogers L, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004309. doi: 10.1101/mcs.a004309. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604776 Free PMC article.

5

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.

6

Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.

Li K, Jin R, Wu X. Li K, et al. Eur J Med Genet. 2020 Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24. Eur J Med Genet. 2020. PMID: 30684668

7

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. Ardicli D, et al. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27. Neuromuscul Disord. 2019. PMID: 31130378

8

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.

Chen J, Xiao J, Chen G, Xu Q, Wu X, Tian L, Huang Z, Xin C, Zhao Y, Guo Z, Zou Y, Wu Q. Chen J, et al. Front Neurol. 2022 Nov 17;13:988519. doi: 10.3389/fneur.2022.988519. eCollection 2022. Front Neurol. 2022. PMID: 36468072 Free PMC article.

9

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants.

Liu L, Su R, Huang P, Li X, Xiong J, Xiao Y, Mao D, Liu L. Liu L, et al. Front Genet. 2022 Aug 11;13:947886. doi: 10.3389/fgene.2022.947886. eCollection 2022. Front Genet. 2022. PMID: 36035138 Free PMC article.

10

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N. Iwama K, et al. J Hum Genet. 2018 Mar;63(3):263-270. doi: 10.1038/s10038-017-0405-8. Epub 2018 Jan 16. J Hum Genet. 2018. PMID: 29339779

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