These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 29339779)

  • 1. 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
    J Hum Genet; 2018 Mar; 63(3):263-270. PubMed ID: 29339779
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.
    Li K; Jin R; Wu X
    Eur J Med Genet; 2020 Jan; 63(1):103623. PubMed ID: 30684668
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; ; Boycott KM; Mah JK; Straub V; Foley AR; Innes AM; Bönnemann CG; Shutt TE
    Acta Neuropathol; 2019 Dec; 138(6):1013-1031. PubMed ID: 31463572
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Neuromuscul Disord; 2019 Jun; 29(6):448-455. PubMed ID: 31130378
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel biallelic variants in
    Schultz-Rogers L; Ferrer A; Dsouza NR; Zimmermann MT; Smith BE; Klee EW; Dhamija R
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31604776
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Indentification of novel
    Chen J; Xiao J; Chen G; Xu Q; Wu X; Tian L; Huang Z; Xin C; Zhao Y; Guo Z; Zou Y; Wu Q
    Front Neurol; 2022; 13():988519. PubMed ID: 36468072
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    Hum Mutat; 2017 Aug; 38(8):970-977. PubMed ID: 28544275
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    J Hum Genet; 2021 Aug; 66(8):835-840. PubMed ID: 33612823
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous
    Liu L; Su R; Huang P; Li X; Xiong J; Xiao Y; Mao D; Liu L
    Front Genet; 2022; 13():947886. PubMed ID: 36035138
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
    Tian Y; Shi Z; Hou C; Li W; Zhu H; Li X; Chen W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):417-420. PubMed ID: 35446979
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
    Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
    Duan X; Hao Y; Cao Z; Zhou C; Zhang J; Wang R; Sun S; Gu W
    Cerebellum; 2021 Feb; 20(1):74-82. PubMed ID: 32889669
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
    Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
    Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
    Gerber S; Lessard L; Rouzier C; Ait-El-Mkadem Saadi S; Ameli R; Thobois S; Abouaf L; Bouhour F; Kaplan J; Putoux A; Pegat A; Rozet JM
    EMBO Mol Med; 2023 Aug; 15(8):e16090. PubMed ID: 37431816
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
    Gál A; Santos JH; Molnár MJ; Hajnóczky G
    EMBO Mol Med; 2023 Aug; 15(8):e16251. PubMed ID: 37431815
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
    Barresi S; Dentici ML; Manzoni F; Bellacchio E; Agolini E; Pizzi S; Ciolfi A; Tarnopolsky M; Brady L; Garone G; Novelli A; Mei D; Guerrini R; Capuano A; Pantaleoni C; Tartaglia M
    Pediatr Neurol; 2020 Mar; 104():40-45. PubMed ID: 31836334
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS
    Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
    Jinda W; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Suriyaphol P; Trinavarat A; Atchaneeyasakul LO
    Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2259-68. PubMed ID: 24618324
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    EMBO Mol Med; 2017 Jul; 9(7):967-984. PubMed ID: 28554942
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.