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 *

170 related articles for article (PubMed ID: 35446979)

  • 1. [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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

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

  • 11. Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.
    Gkiourtzis N; Tramma D; Papadopoulou-Legbelou K; Moutafi M; Evangeliou A
    Am J Med Genet A; 2023 Dec; 191(12):2843-2849. PubMed ID: 37565517
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene].
    Wang J; He X; Chen D; Hang S; Gao Y; Li X; Hu K; Bai C; Chen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):977-980. PubMed ID: 34625936
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].
    Wang J; Wei X; Tao Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):413-416. PubMed ID: 35446978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical features and genetic analysis of a child with glycogen storage disease type VI].
    Su L; Zhu C; Wu J; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1099-1102. PubMed ID: 36184091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
    Chen J; Hu C; Ren L; Li J; Lei T; Chen S; Zhao P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):48-51. PubMed ID: 34964966
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].
    Liu M; Lu Y; Ma Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):52-55. PubMed ID: 34964967
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
    D'Gama AM; England E; Madden JA; Shi J; Chao KR; Wojcik MH; Torres AR; Tan WH; Berry GT; Prabhu SP; Agrawal PB
    Am J Med Genet A; 2021 Jan; 185(1):203-207. PubMed ID: 33037779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene].
    He S; Chen S; Peng Y; Fan X; Li S; Zhang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):395-401. PubMed ID: 36972931
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].
    Cong Y; Wang D; Wang H; Xu X; Wu K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1270-1274. PubMed ID: 36317217
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.