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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1977 1
1979 1
1980 1
1981 4
1982 4
1983 3
1984 5
1985 4
1987 1
1988 2
1989 3
1990 6
1991 9
1992 8
1993 4
1994 6
1995 11
1996 8
1997 8
1998 9
1999 5
2000 6
2001 6
2002 7
2003 7
2004 10
2005 1
2006 8
2007 11
2008 10
2009 4
2010 11
2011 8
2012 10
2013 10
2014 14
2015 9
2016 12
2017 7
2018 10
2019 7
2020 10
2021 13
2022 14
2023 9
2024 3

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294 results

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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Mitochondrial biogenesis: pharmacological approaches.
Valero T. Valero T. Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. Curr Pharm Des. 2014. PMID: 24606795
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis a …
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns …
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the c …
Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications …
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO …
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K. Groh WJ, et al. Heart Rhythm. 2022 Oct;19(10):e61-e120. doi: 10.1016/j.hrthm.2022.04.022. Epub 2022 Apr 29. Heart Rhythm. 2022. PMID: 35500790
The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy type 2; myotonic dystrophy type 1 and type 2; Emery-Dreifuss muscular dystrophy …
The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, B …
Mitochondrial disorders and the eye.
Kisilevsky E, Freund P, Margolin E. Kisilevsky E, et al. Surv Ophthalmol. 2020 May-Jun;65(3):294-311. doi: 10.1016/j.survophthal.2019.11.001. Epub 2019 Nov 27. Surv Ophthalmol. 2020. PMID: 31783046 Review.
Neuroimaging of Mitochondrial Cytopathies.
Alves CAPF, Gonçalves FG, Grieb D, Lucato LT, Goldstein AC, Zuccoli G. Alves CAPF, et al. Top Magn Reson Imaging. 2018 Aug;27(4):219-240. doi: 10.1097/RMR.0000000000000173. Top Magn Reson Imaging. 2018. PMID: 30086109 Review.
Exophthalmos in Kearns-Sayre syndrome.
Tauber J, Polla DJ, Park S. Tauber J, et al. J AAPOS. 2019 Oct;23(5):295-297. doi: 10.1016/j.jaapos.2019.05.005. Epub 2019 May 31. J AAPOS. 2019. PMID: 31158487
Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) deletion syndrome that typically presents before 20 years of age and is characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and a combination of cardiac conduct …
Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) deletion syndrome that typically presents before 20 yea …
Teaching NeuroImages: Kearns-Sayre syndrome.
Nguyen MTB, Micieli J, Margolin E. Nguyen MTB, et al. Neurology. 2019 Jan 29;92(5):e519-e520. doi: 10.1212/WNL.0000000000006861. Epub 2019 Jan 11. Neurology. 2019. PMID: 30635486 No abstract available.
294 results