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Results by year

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

Year Number of Results
1987 2
1988 1
1989 5
1990 2
1991 8
1992 5
1993 6
1994 9
1995 5
1996 6
1997 3
1998 9
1999 13
2000 21
2001 17
2002 14
2003 16
2004 18
2005 12
2006 11
2007 9
2008 16
2009 20
2010 13
2011 21
2012 20
2013 14
2014 18
2015 17
2016 13
2017 11
2018 31
2019 41
2020 28
2021 38
2022 32
2023 18
2024 7

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PubMed for id: 1750917

500 results

Results by year

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Page 1
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
Courtois S, Angelini C, M Durand C, Dias Amoedo N, Courreges A, Dumon E, Le Quang M, Goizet C, Martin-Negrier ML, Rossignol R, Lacombe D, Coupry I, Trimouille A. Courtois S, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166856. doi: 10.1016/j.bbadis.2023.166856. Epub 2023 Aug 26. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37640115
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report.
Kazakova E, Téllez-Martínez JA, Flores-Lagunes L, Sosa-Ortiz AL, Carillo-Sánchez K, Molina-Garay C, González-Domínguez CA, Jimenez-Olivares M, Fernandez-Valverde F, Vargas-Cañas ES, Vázquez-Memije ME, Garcia-Latorre EA, Martínez-Duncker I, Alaez-Verson C. Kazakova E, et al. Front Neurol. 2023 Jun 29;14:878446. doi: 10.3389/fneur.2023.878446. eCollection 2023. Front Neurol. 2023. PMID: 37456626 Free PMC article.
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
Haroon S, Yoon H, Seiler C, Osei-Frimpong B, He J, Nair RM, Mathew ND, Burg L, Kose M, Venkata CRM, Anderson VE, Nakamaru-Ogiso E, Falk MJ. Haroon S, et al. Hum Mol Genet. 2023 Jun 5;32(12):1988-2004. doi: 10.1093/hmg/ddad031. Hum Mol Genet. 2023. PMID: 36795052 Free PMC article.
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN, Foltopoulou PF, Ingendoh-Tsakmakidis A, Tsiftsoglou AS, Vizirianakis IS, Pappas IS, Papadopoulou LC. Miliotou AN, et al. Pharmaceutics. 2023 Jan 14;15(1):286. doi: 10.3390/pharmaceutics15010286. Pharmaceutics. 2023. PMID: 36678915 Free PMC article. Review.
500 results