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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]
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]
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]