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Year Number of Results
1997 1
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2001 3
2002 1
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2005 2
2006 1
2007 2
2008 1
2009 2
2010 2
2011 1
2012 3
2013 3
2014 4
2015 2
2016 2
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2019 3
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2023 2
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45 results

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Page 1
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria opht …
Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP muta …
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Neurotherapeutics. 2013. PMID: 23385875 Free PMC article. Review.
MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis (TK2, SUCLA2, SUCLG1, RRM2B, DGUOK, and TYMP) or mtDNA replication (POLG and C10orf2). ...Hepatocerebral MDS, caused by mutations in …
MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide syn …
[Mitochondrial diseases].
Radelfahr F, Klopstock T. Radelfahr F, et al. Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Nervenarzt. 2019. PMID: 30643957 Review. German.
Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. ...The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy …
Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. ...The most common MDs are Leber' …
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
Wang H, Ruan G, Yang S, Li H, Sun Z, Tian B, Yan P, Li Y, Yang H, Zhong Y, Qian J. Wang H, et al. Am J Med Genet A. 2023 Dec;191(12):2819-2824. doi: 10.1002/ajmg.a.63361. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37530213 Review.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. ...The bilateral papillomacular bundle defect and central vision loss in MNGI …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that o …
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.
Hanbali A, Rasheed W, Peedikayil MC, Boholega S, Alzahrani HA. Hanbali A, et al. Exp Clin Transplant. 2018 Dec;16(6):773-778. doi: 10.6002/ect.2016.0109. Epub 2017 Apr 14. Exp Clin Transplant. 2018. PMID: 28411356 Free article. Review.
Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a rare autosomal recessive multisystem disorder caused by nuclear TYMP gene mutations, which leads to deficiency in thymidine phosphorylase enzyme. ...Here, we present a case series of 3 patien …
Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a rare autosomal recessive multisystem disorder cause …
Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature.
Peedikayil MC, Kagevi EI, Abufarhaneh E, Alsayed MD, Alzahrani HA. Peedikayil MC, et al. Hematol Oncol Stem Cell Ther. 2015 Jun;8(2):85-90. doi: 10.1016/j.hemonc.2014.12.001. Epub 2015 Jan 6. Hematol Oncol Stem Cell Ther. 2015. PMID: 25585305 Free article. Review.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. ...The toxic levels of these products cause malfunction of the mitochondrial respiratory chain and mitochondrial DNA. Commonly, patients become …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. ...The toxic leve …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Lara MC, et al. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2. Biosci Rep. 2007. PMID: 17549623 Review.
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in th …
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mit …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M, Nishigaki Y, Martí R. Hirano M, et al. Neurologist. 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04. Neurologist. 2004. PMID: 14720311 Review.
BACKGROUND: Mitochondrial encephalomyopathies are clinically and genetically heterogeneous because mitochondria are the products of 2 genomes: mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). ...REVIEW SUMMARY: Mitochondrial neurogastrointes …
BACKGROUND: Mitochondrial encephalomyopathies are clinically and genetically heterogeneous because mitochondria are the …
Chronic intestinal pseudo-obstruction.
Hirano I, Pandolfino J. Hirano I, et al. Dig Dis. 2000;18(2):83-92. doi: 10.1159/000016969. Dig Dis. 2000. PMID: 11060471 Review.
Recent advances into the autoimmune nature of etiologies such as Chagas' disease and paraneoplastic dysmotility and into the genetic basis of mitochondrial neurogastrointestinal encephalomyopathy, multiple endocrine neoplasia IIB and Hirschsprung's disease ha …
Recent advances into the autoimmune nature of etiologies such as Chagas' disease and paraneoplastic dysmotility and into the genetic basis o …
45 results