PubMed for id: 777997

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19553121,16288873,15221331,15198992,10508519,36796746,36085566,35894740,35081925,29420541,29328520,26172852,25913210,21677359,19181090,18976909,18574571,17387733,15692861,15495263,12921789,11563546,2205709,38227756,36544230,32362383,31932031,17641259,9185179,30987788,25890230,25088345,38612447,38609428,38608089,38607449,38607085,38607040,38607030,38605287,38604958,38600480,38600369,38597990,38594301,38589931,38589850,38589740,38587703,38587442,38586167,38586165,38583179,38582958,38581121,38580989,38579669,38578475,38578360,38576105,38570878,38569017,38568320,38567606,38565509,38564005,38562051,38561841,38561828,38553482,38546524,38546151,38546112,38546032,38544685,38542208,38542117,38541204,38540676,38540423,38540380,38540347,38540333,38539162,38538623,38536562,38534090,38530023,38529304,38528672,38528593,38528581,38527845,38527843,38523034,38521969,38520674,38519717,38517998,38514927,38514827,38514164,38509666,38509464,38509388,38508186,38507752,38499350,38491417,38489870,38489704,38488417,38484269,38483073,38480682,38478803,38476584,38475910,38474855,38474401,38473894,38472376,38471098,38468256,38466963,38464914,38458745,38458030,38453233,38448019,38447437,38445418,38445406,38443015,38441936,38439002,38438854,38438057,38433572,38433185,38432869,38431955,38431907,38430736,38428858,38428778,38428348,38427811,38427650,38427048,38426679,38424485,38423277,38420799,38419580,38418155,38416681,38416203,38413582,38409970,38409042,38408952,38407511,38406825,38406380,38403596,38401849,38401771,38397448,38397227,38397079,38395768,38395422,38394153,38391941,38391932,38391909,38389191,38388531,38383825,38383398,38382588,38382230,38381504,38378758,38378296,38377139,38374571,38373275,38368932,38368694,38365995,38365697,38365575,38364974,38363865,38363615,38363477,38363432,38363032,38361950,38361118,38360726,38358893,38358827,38355773,38355430,38354005,38353247,38353183,38351344,38350853,38350738,38348997,38348603,38346074,38345966,38343885,38342349,38341844,38340451,38337174,38336741,38335662,38331118,38330802,38329587,38328001,38325642,38325148,38324931,38324148,38324138,38319272,38317096,38316835,38316428,38315301,38311799,38311638,38310355,38309448,38309148,38309147,38307397,38307176,38306583,38306576,38306523,38305941,38302755,38302374,38302122,38301322,38301078,38300707,38299438,38297847,38297844,38297315,38297306,38296324,38296034,38295319,38294784,38291356,38289678,38288475,38287840,38287677,38287380,38285770,38285409,38284450,38282771,38282009,38281435,38281293,38280747,38279849,38279271,38278126,38277988,38277553,38277369,38275824,38275615,38275611,38275590,38275294,38272714,38272175,38272031,38271453,38270354,38266955,38265561,38262861,38256124,38256074,38255836,38254922,38254920,38254679,38254107,38254053,38252227,38252118,38250608,38247861,38245859,38245786,38245701,38240987,38238087,38236359,38235633,38233937,38233004,38231304,38230423,38229216,38229174,38228559,38225227,38224318,38223634,38221620,38221593,38216729,38214412,38212758,38212754,38206738,38204312,38203604,38203285,38203231,38201236,38200218,38199085,38198642,38198533,38197511,38195117,38192425,38192009,38191138,38189623,38189198,38183624,38181929,38178055,38178039,38178022,38177237,38175272,38173795,38172607,38172377,38168645,38167461,38167320,38167091,38166857,38166572,38166133,38165852,38165779,38165373,38165066,38163266,38158857,38158688,38157855,38156946,38156538,38154558,38154292,38154291,38153174,38149545,38149346,38148610,38148006,38147151,38146894,38142971,38142473,38142039,38141137,38141121,38141063,38139357,38139324,38139222,38139117,38135897,38135884,38135707,38135619,38135239,38134649,38134578,38134094,38133879,38131666,38129970,38129713,38129603,38129424,38129330,38129328,38129319,38129107,38127843,38126872,38124489,38124387,38123563,38123476,38123379,38123004,38122899,38117723,38115997,38115782,38115360,38115240,38114997,38113697,38113552,38113221,38112945,38111981,38111203,38111157,38110744,38110300,38110236,38109990,38109455,38109176,38108359,38105698,38104293,38104125,38103636,38103548,38102195,38101161,38099988,38098057,38097330,38096740,38094283,38093297,38091959,38091257,38091065,38090542,38090248,38088234,38087305,38086984,38083972,38079206,38078932,38073519,38073384,38072851,38071212,38071078,38070825,38070824,38069462,38069326,38069057,38067130,38066485,38066067,38065893,38065855,38063144,38062616,38062477,38061527,38060262,38060187,38058963,38058155,38057855,38057443,38057384,38057357,38055125,38053140,38052425,38050271,38050027[uid]

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Results by year

Year	Number of Results
1990	1
1997	1
1999	1
2001	1
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2004	4
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2008	3
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2023	149
2024	385

500 results

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Page 1

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Arai A, et al. Neuromuscul Disord. 2009 Jul;19(7):485-8. doi: 10.1016/j.nmd.2009.06.366. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553121

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

Ilkovski B, Clement S, Sewry C, North KN, Cooper ST. Ilkovski B, et al. Neuromuscul Disord. 2005 Dec;15(12):829-35. doi: 10.1016/j.nmd.2005.08.004. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288873

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

Schröder JM, Durling H, Laing N. Schröder JM, et al. Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub 2004 Jun 24. Acta Neuropathol. 2004. PMID: 15221331

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST. Ilkovski B, et al. Hum Mol Genet. 2004 Aug 15;13(16):1727-43. doi: 10.1093/hmg/ddh185. Epub 2004 Jun 15. Hum Mol Genet. 2004. PMID: 15198992

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.

Gartz M, Haberman M, Sutton J, Slick RA, Luttrell SM, Mack DL, Lawlor MW. Gartz M, et al. Exp Cell Res. 2023 Mar 15;424(2):113507. doi: 10.1016/j.yexcr.2023.113507. Epub 2023 Feb 14. Exp Cell Res. 2023. PMID: 36796746 Free PMC article.

Comparison of incorporation of wild type and mutated actins into sarcomeres in skeletal muscle cells: A fluorescence recovery after photobleaching study.

Wang J, Fan Y, Mittal B, Sanger JM, Sanger JW. Wang J, et al. Cytoskeleton (Hoboken). 2022 Sep;79(9-11):105-115. doi: 10.1002/cm.21725. Epub 2022 Sep 21. Cytoskeleton (Hoboken). 2022. PMID: 36085566

RET gene mutational diagnosis and precision medicine in Mexico.

Martínez-Castillo MA, Zárate MEM, Valenzuela-Pérez A, Ruiz-Romero JA, Quijano-Castro FO, Salcedo M. Martínez-Castillo MA, et al. Gac Med Mex. 2022;158(3):150-156. doi: 10.24875/GMM.M22000658. Gac Med Mex. 2022. PMID: 35894740 Free article. English.

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Zhang Y, Yan H, Liu J, Yan H, Ma Y, Wei C, Wang Z, Xiong H, Chang X. Zhang Y, et al. BMC Pediatr. 2022 Jan 26;22(1):65. doi: 10.1186/s12887-021-03024-0. BMC Pediatr. 2022. PMID: 35081925 Free PMC article.

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein.

Sztal TE, McKaige EA, Williams C, Ruparelia AA, Bryson-Richardson RJ. Sztal TE, et al. PLoS Genet. 2018 Feb 8;14(2):e1007212. doi: 10.1371/journal.pgen.1007212. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29420541 Free PMC article.

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