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

Year Number of Results
1946 2
1949 6
1950 3
1951 5
1952 2
1953 1
1954 2
1957 3
1958 2
1959 2
1960 7
1961 6
1962 4
1963 2
1964 2
1965 4
1966 4
1967 3
1968 3
1969 3
1970 2
1971 2
1972 1
1973 3
1974 1
1975 2
1976 1
1977 2
1978 4
1979 3
1980 4
1981 3
1982 3
1983 1
1984 1
1986 3
1987 4
1988 2
1989 1
1990 8
1991 5
1992 3
1993 1
1994 5
1995 4
1996 13
1997 9
1998 6
1999 4
2000 7
2001 5
2002 7
2003 8
2004 4
2005 2
2006 3
2007 7
2008 6
2009 7
2010 9
2011 9
2012 13
2013 15
2014 15
2015 14
2016 17
2017 21
2018 21
2019 24
2020 17
2021 9
2022 15
2023 8
2024 18

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418 results

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Page 1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: laporte j. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: laporte j. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
[PYROXD1-related myopathy].
Lornage X, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: laporte j. Med Sci (Paris). 2019 Nov;35 Hors série n° 2:43-44. doi: 10.1051/medsci/2019183. Epub 2019 Dec 20. Med Sci (Paris). 2019. PMID: 31859631 Free article. Review. French.
BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP, Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G, Morth JP, Louch WE. Perdreau-Dahl H, et al. Among authors: laporte j. Circ Res. 2023 May 26;132(11):e188-e205. doi: 10.1161/CIRCRESAHA.122.321732. Epub 2023 May 4. Circ Res. 2023. PMID: 37139790 Free article.
Dietary pro-oxidant therapy by a vitamin K precursor targets PI 3-kinase VPS34 function.
Swamynathan MM, Kuang S, Watrud KE, Doherty MR, Gineste C, Mathew G, Gong GQ, Cox H, Cheng E, Reiss D, Kendall J, Ghosh D, Reczek CR, Zhao X, Herzka T, Špokaitė S, Dessus AN, Kim ST, Klingbeil O, Liu J, Nowak DG, Alsudani H, Wee TL, Park Y, Minicozzi F, Rivera K, Almeida AS, Chang K, Chakrabarty RP, Wilkinson JE, Gimotty PA, Diermeier SD, Egeblad M, Vakoc CR, Locasale JW, Chandel NS, Janowitz T, Hicks JB, Wigler M, Pappin DJ, Williams RL, Cifani P, Tuveson DA, Laporte J, Trotman LC. Swamynathan MM, et al. Among authors: laporte j. Science. 2024 Oct 25;386(6720):eadk9167. doi: 10.1126/science.adk9167. Epub 2024 Oct 25. Science. 2024. PMID: 39446948
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: laporte j. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: laporte j. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, … See abstract for full author list ➔ Klionsky DJ, et al. Among authors: laporte j. Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. Autophagy. 2016. PMID: 26799652 Free PMC article. No abstract available.
Therapeutic approaches in different congenital myopathies.
Gineste C, Laporte J. Gineste C, et al. Among authors: laporte j. Curr Opin Pharmacol. 2023 Feb;68:102328. doi: 10.1016/j.coph.2022.102328. Epub 2022 Dec 10. Curr Opin Pharmacol. 2023. PMID: 36512981 Free article. Review.
418 results