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7 in total

1. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Authors: T Rijkers; G Deidda; S van Koningsbruggen; M van Geel; R J L F Lemmers; J C T van Deutekom; D Figlewicz; J E Hewitt; G W Padberg; R R Frants; S M van der Maarel
Journal: J Med Genet Date: 2004-11 Impact factor: 6.318

2. Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.

Authors: Daniel R Crooks; Suh Young Jeong; Wing-Hang Tong; Manik C Ghosh; Hayden Olivierre; Ronald G Haller; Tracey A Rouault
Journal: J Biol Chem Date: 2012-10-03 Impact factor: 5.157

3. Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.

Authors: Daniel R Crooks; Manik C Ghosh; Ronald G Haller; Wing-Hang Tong; Tracey A Rouault
Journal: Blood Date: 2009-11-25 Impact factor: 22.113

4. A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Authors: Laura Kytövuori; Joonas Lipponen; Harri Rusanen; Tuomas Komulainen; Mika H Martikainen; Kari Majamaa
Journal: J Neurol Date: 2016-08-08 Impact factor: 4.849

5. Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Authors: Florin Sasarman; Tamiko Nishimura; Hana Antonicka; Woranontee Weraarpachai; Eric A Shoubridge
Journal: Hum Mol Genet Date: 2014-09-11 Impact factor: 6.150

6. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Authors: Laura Kytövuori; Mikko Kärppä; Hannu Tuominen; Johanna Uusimaa; Markku Saari; Reetta Hinttala; Kari Majamaa
Journal: BMC Neurol Date: 2017-05-18 Impact factor: 2.474

7. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

Authors: C Bruno; A Martinuzzi; Y Tang; A L Andreu; F Pallotti; E Bonilla; S Shanske; J Fu; C M Sue; C Angelini; S DiMauro; G Manfredi
Journal: Am J Hum Genet Date: 1999-09 Impact factor: 11.025

7 in total