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The polyG diseases: a new disease entity.
Liufu T, Zheng Y, Yu J, Yuan Y, Wang Z, Deng J, Hong D. Liufu T, et al. Acta Neuropathol Commun. 2022 May 31;10(1):79. doi: 10.1186/s40478-022-01383-y. Acta Neuropathol Commun. 2022. PMID: 35642014 Free PMC article. Review.
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5' untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oculopharynge
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnorm …
Mitochondrial hepatopathy in adults: a case series and review of the literature.
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D. Cloots K, et al. Eur J Gastroenterol Hepatol. 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. Eur J Gastroenterol Hepatol. 2013. PMID: 23426270 Review.
AIM: Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondrial disease show liver involvement. ...Evidence-based causal therapy is unavailable for most mitochondrial diseases and liver transplan …
AIM: Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondria …