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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 Eur J Med Genet; 2020 Jan; 63(1):103623. PubMed ID: 30684668 [TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants. Jiao Y; Kuang S; Yang S; Han X Acta Neurol Belg; 2021 Jun; 121(3):795-797. PubMed ID: 33222031 [No Abstract] [Full Text] [Related]
12. [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]
13. Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Surl D; Shin S; Lee ST; Choi JR; Lee J; Byeon SH; Han SH; Lim HT; Han J Mol Vis; 2020; 26():26-35. PubMed ID: 32165824 [TBL] [Abstract][Full Text] [Related]
14. Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. Nguyen M; Boesten I; Hellebrekers DM; Mulder-den Hartog NM; de Coo IF; Smeets HJ; Gerards M Clin Genet; 2017 Jan; 91(1):121-125. PubMed ID: 26951855 [TBL] [Abstract][Full Text] [Related]
15. [An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]. Verny C; Amati-Bonneau P; Dubas F; Malthiéry Y; Reynier P; Bonneau D Rev Neurol (Paris); 2005 Apr; 161(4):451-4. PubMed ID: 15924081 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Howell N; Halvorson S; Burns J; McCullough DA; Paulton J Am J Hum Genet; 1993 Oct; 53(4):959-63. PubMed ID: 8213825 [No Abstract] [Full Text] [Related]
19. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Zhu DP; Economou EP; Antonarakis SE; Maumenee IH Am J Med Genet; 1992 Jan; 42(2):173-9. PubMed ID: 1346348 [TBL] [Abstract][Full Text] [Related]