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

Year Number of Results
1911 1
1917 2
1923 1
1924 2
1925 1
1927 1
1930 1
1931 1
1935 1
1936 1
1949 1
1952 1
1953 1
1961 2
1963 3
1964 2
1965 1
1972 1
1974 1
1975 2
1976 1
1977 2
1978 1
1979 1
1980 1
1983 2
1984 8
1985 2
1986 3
1987 3
1988 17
1989 20
1990 20
1991 25
1992 16
1993 23
1994 27
1995 18
1996 22
1997 30
1998 27
1999 33
2000 31
2001 43
2002 32
2003 45
2004 46
2005 75
2006 94
2007 75
2008 69
2009 66
2010 57
2011 81
2012 71
2013 111
2014 225
2015 261
2016 275
2017 263
2018 338
2019 397
2020 475
2021 424
2022 413
2023 453
2024 154

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4,387 results

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Page 1
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. ...Analysis of longitudinal data using the CMTESv2 and its Rasch-weighted counterpart, CMTESv2- …
Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of …
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM. ...The severe NDD-associated varia …
DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the hi …
Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer.
Yaeger R, Chatila WK, Lipsyc MD, Hechtman JF, Cercek A, Sanchez-Vega F, Jayakumaran G, Middha S, Zehir A, Donoghue MTA, You D, Viale A, Kemeny N, Segal NH, Stadler ZK, Varghese AM, Kundra R, Gao J, Syed A, Hyman DM, Vakiani E, Rosen N, Taylor BS, Ladanyi M, Berger MF, Solit DB, Shia J, Saltz L, Schultz N. Yaeger R, et al. Cancer Cell. 2018 Jan 8;33(1):125-136.e3. doi: 10.1016/j.ccell.2017.12.004. Cancer Cell. 2018. PMID: 29316426 Free PMC article.
Endothelial-to-mesenchymal transition in pulmonary hypertension.
Ranchoux B, Antigny F, Rucker-Martin C, Hautefort A, Péchoux C, Bogaard HJ, Dorfmüller P, Remy S, Lecerf F, Planté S, Chat S, Fadel E, Houssaini A, Anegon I, Adnot S, Simonneau G, Humbert M, Cohen-Kaminsky S, Perros F. Ranchoux B, et al. Circulation. 2015 Mar 17;131(11):1006-18. doi: 10.1161/CIRCULATIONAHA.114.008750. Epub 2015 Jan 15. Circulation. 2015. PMID: 25593290
OncoKB: A Precision Oncology Knowledge Base.
Chakravarty D, Gao J, Phillips SM, Kundra R, Zhang H, Wang J, Rudolph JE, Yaeger R, Soumerai T, Nissan MH, Chang MT, Chandarlapaty S, Traina TA, Paik PK, Ho AL, Hantash FM, Grupe A, Baxi SS, Callahan MK, Snyder A, Chi P, Danila D, Gounder M, Harding JJ, Hellmann MD, Iyer G, Janjigian Y, Kaley T, Levine DA, Lowery M, Omuro A, Postow MA, Rathkopf D, Shoushtari AN, Shukla N, Voss M, Paraiso E, Zehir A, Berger MF, Taylor BS, Saltz LB, Riely GJ, Ladanyi M, Hyman DM, Baselga J, Sabbatini P, Solit DB, Schultz N. Chakravarty D, et al. JCO Precis Oncol. 2017 Jul;2017:PO.17.00011. doi: 10.1200/PO.17.00011. Epub 2017 May 16. JCO Precis Oncol. 2017. PMID: 28890946 Free PMC article.
tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase.
Zuko A, Mallik M, Thompson R, Spaulding EL, Wienand AR, Been M, Tadenev ALD, van Bakel N, Sijlmans C, Santos LA, Bussmann J, Catinozzi M, Das S, Kulshrestha D, Burgess RW, Ignatova Z, Storkebaum E. Zuko A, et al. Science. 2021 Sep 3;373(6559):1161-1166. doi: 10.1126/science.abb3356. Epub 2021 Sep 1. Science. 2021. PMID: 34516840 Free PMC article.
Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. CMT mutant tRNA synthetases inhibit protein synthesis by an unknown mechanism. ...
Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. CMT mutant …
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease …
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but of …
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Fridman V, et al. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28. Ann Neurol. 2023. PMID: 36203352 Free PMC article.
We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consortium. METHODS: Change in Charcot-Marie-Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES-R) were evaluated usin …
We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Conso …
PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity.
Jayakumar S, Patel M, Boulet F, Aziz H, Brooke GN, Tummala H, Pradeepa MM. Jayakumar S, et al. Nat Commun. 2024 Jan 8;15(1):361. doi: 10.1038/s41467-023-44544-w. Nat Commun. 2024. PMID: 38191578 Free PMC article.
R-loops that accumulate at transcription sites pose a persistent threat to genome integrity. ...Genome-wide mapping of PSIP1, R-loops and gamma-H2AX in PSIP1-depleted human and mouse cell lines revealed an accumulation of R-loops and DNA damage at gene promot …
R-loops that accumulate at transcription sites pose a persistent threat to genome integrity. ...Genome-wide mapping of PSIP1, R …
Case 251.
Debelmas A, Benchetrit D, Galanaud D, Khonsari RH. Debelmas A, et al. Radiology. 2017 Nov;285(2):681-682. doi: 10.1148/radiol.2017152593. Radiology. 2017. PMID: 29045230 No abstract available.
4,387 results