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Neurology. Genetics|May 25, 2026
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 SiblingsGianpaolo Cicala, Elisa Rolleri, Beatrice Berti, et al.
DNA Repair|December 12, 2012
Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissuesStéphanie Tomé, Jodie P Simard, Meghan M Slean, et al.
The American Journal of Pathology|December 20, 2008
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscleIan Holt, Virginie Jacquemin, Majid Fardaei, et al.
BMC Cell Biology|June 29, 2016
Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibodyIan Holt, Nguyen Thuy Duong, Qiuping Zhang, et al.
The Journal of Biological Chemistry|September 9, 2011
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complexSharan Paul, Warunee Dansithong, Sonali P Jog, et al.
EMBO Molecular Medicine|May 24, 2023
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathyNneka Southwell, Guido Primiano, Viraj Nadkarni, et al.
Scientific Reports|October 4, 2019
Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscleIan Holt, Heidi R Fuller, Le Thanh Lam, et al.
European Journal of Biochemistry|May 21, 2003
Emerin interacts in vitro with the splicing-associated factor, YT521-BFiona L Wilkinson, James M Holaska, Zhayi Zhang, et al.
Cell Metabolism|April 17, 2018
Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA MutationsQiuying Chen, Kathryne Kirk, Yevgeniya I Shurubor, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.
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