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Results by year

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

Year Number of Results
1966 1
1969 1
1971 1
1975 2
1976 2
1977 1
1978 4
1980 2
1982 4
1983 3
1984 3
1985 4
1986 4
1987 4
1988 4
1989 8
1990 15
1991 21
1992 30
1993 33
1994 32
1995 38
1996 31
1997 34
1998 32
1999 34
2000 21
2001 49
2002 55
2003 54
2004 51
2005 53
2006 59
2007 59
2008 54
2009 56
2010 68
2011 46
2012 61
2013 59
2014 47
2015 43
2016 64
2017 64
2018 60
2019 62
2020 72
2021 80
2022 102
2023 81
2024 27

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PubMed for id: 182973

1,630 results

Results by year

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Page 1
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J, Ruiz-Pesini E. Emperador S, et al. Orphanet J Rare Dis. 2024 Apr 6;19(1):148. doi: 10.1186/s13023-024-03165-2. Orphanet J Rare Dis. 2024. PMID: 38582886 Free PMC article.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Peron C, Cavaliere A, Fasano C, Iannielli A, Spagnolo M, Legati A, Nicol Colombo M, Rizzo A, Sciacca FL, Carelli V, Broccoli V, Lamperti C, Tiranti V. Peron C, et al. Stem Cell Res. 2024 Mar 24;77:103406. doi: 10.1016/j.scr.2024.103406. Online ahead of print. Stem Cell Res. 2024. PMID: 38552355 Free article.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
1,630 results