PubMed for id: 461766

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38674358,38649898,38554696,38520674,38502166,38491417,38474342,38406381,38254987,38221511,38212463,38185014,38181929,38174471,38160563,38143368,38129970,38065855,37977713,37936227,37933889,37930228,37919902,37883978,37856057,37848047,37756622,37739444,37643885,37602753,37569848,37562880,37525074,37501786,37490306,37458870,37446359,37432316,37395972,37393749,37393748,37372388,37345726,37340967,37315421,37211996,37182895,37155641,37154180,37108075,37087885,37047652,37023487,37021539,36982625,36982167,36920481,36916508,36893608,36869887,36862731,36849355,36849228,36833411,36833299,36804094,36782350,36774715,36669590,36631501,36592225,36522254,36490374,36399172,36334577,36292593,36258243,36030003,35989179,35961424,35951155,35946603,35929934,35909075,35886995,35876338,35869874,35868898,35854315,35838082,35821558,35815343,35810429,35796944,35767654,35764245,35694932,35690317,35639486,35562158,35548885,35533453,35457228,35456500,35393337,35388608,35276412,35243762,35229908,35217605,35175440,35122151,34970863,34943936,34923335,34918981,34888914,34872991,34834072,34831073,34828429,34825470,34816580,34808346,34667072,34654610,34653404,34648194,34633329,34606700,34587870,34568901,34565739,34559299,34547769,34528292,34509921,34509255,34499826,34487232,34453943,34424553,34384384,34378097,34372931,34281576,34167565,34145742,34106991,34053846,34027671,33977792,33955509,33940562,33933663,33923914,33922911,33917608,33811133,33774370,33772159,33765348,33762497,33750322,33749658,33712684,33694278,33671400,33639315,33638605,33610554,33602879,33596003,33565183,33537799,33515430,33513091,33458580,33443296,33441455,33427633,33410539,33397003,33394555,33382107,33354762,33341260,33337382,33309881,33272829,33199158,33190635,33164824,33138863,33129849,33129265,33124102,33122211,33103328,33093005,33075594,33060052,33000450,32947049,32933822,32904964,32896090,32893083,32875576,32864802,32844998,32833721,32826339,32819792,32788638,32684384,32663882,32650001,32646507,32571898,32571460,32538860,32498713,32448721,32444167,32439203,32403337,32389683,32381029,32360402,32342672,32333597,32307885,32276632,32253878,32231000,32184166,32174067,32165108,32160656,32093627,32079542,32065942,32055997,32053901,32039858,32023010,31991774,31973088,31949166,31897643,31885220,31857427,31856875,31844279,31833209,31821719,31794464,31682967,31664938,31627234,31566294,31540749,31516082,31498906,31471688,31471117,31468327,31463572,31455395,31455269,31410651,31402629,31381525,31378432,31332964,31324324,31309180,31309178,31266720,31255525,31248636,31227654,31211170,31133047,31130378,31118107,31066047,31040037,31034989,31031081,31024060,30932294,30928807,30921636,30919936,30909440,30900984,30808312,30794915,30791960,30773800,30768849,30761551,30738494,30736844,30706156,30695890,30695889,30588737,30578099,30518714,30496909,30486920,30472488,30462217,30454682,30407211,30406384,30395865,30388402,30365001,30296183,30257713,30230566,30203143,30150693,30122513,30055037,30040738,30025162,30017359,29999148,29980640,29959184,29950440,29933045,29930110,29895224,29894794,29884773,29855340,29843625,29791932,29752552,29704306,29618840,29555514,29498561,29485812,29457652,29437916,29419890,29419866,29406609,29376585,29342313,29306600,29278895,29274205,29273277,29273094,29244830,29172004,29170849,29099150,29070483,29067961,29016649,28984114,28980384,28965750,28953919,28940338,28915335,28867506,28825343,28818390,28815891,28803818,28777491,28760337,28716623,28688748,28653766,28653367,28635954,28629604,28624464,28558865,28554554,28540413,28512129,28416349,28411356,28367954,28334964,28299359,28269792,28254648,28224647,28218388,28186590,28157257,28125586,28085238,27938454,27932089,27891585,27876398,27854214,27843092,27816943,27782104,27726070,27709505,27708273,27684565,27656840,27588369,27539103,27519468,27453230,27450922,27447704,27443559,27439679,27391550,27387980,27375179,27358400,27357428,27287550,27123443,27112773,27102838,27099343,27074222,27035234,27008887,26998597,26948711,26945058,26870889,26782017,26782016,26776543,26758109,26754003,26670220,26602803,26545172,26519543,26497905,26482047,26436962,26418456,26410442,26395118,26327126,26247237,26133662,26110311,26098624,26087224,26067811,25978941,25960145,25922261,25913210,25900305,25868664,25839387,25808502,25790323,25778940,25757569,25721873,25712547,25712306,25666907,25663498,25653289,25635128,25620203,25617006,25609763,25603119,25530118,25529940,25512093,25500573,25497877,25449070,25444434,25413954,25403635,25353622,25307854,25277362[uid]

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Results by year

Year	Number of Results
2014	10
2015	51
2016	44
2017	62
2018	54
2019	69
2020	76
2021	83
2022	56
2023	61
2024	19

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Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Cordova I, et al. Genes (Basel). 2024 Mar 28;15(4):423. doi: 10.3390/genes15040423. Genes (Basel). 2024. PMID: 38674358 Free PMC article. Review.

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy.

Chen Y, Zhang S, Lu X, Xie W, Wang C, Zhai Z. Chen Y, et al. BMC Pulm Med. 2024 Apr 22;24(1):194. doi: 10.1186/s12890-024-03016-7. BMC Pulm Med. 2024. PMID: 38649898 Free PMC article.

Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.

Storey EC, Holt I, Brown S, Synowsky S, Shirran S, Fuller HR. Storey EC, et al. Neuromuscul Disord. 2024 May;38:26-41. doi: 10.1016/j.nmd.2024.03.006. Epub 2024 Mar 15. Neuromuscul Disord. 2024. PMID: 38554696 Free article.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. Jackson M, et al. Prenat Diagn. 2024 Apr;44(4):522-526. doi: 10.1002/pd.6553. Epub 2024 Mar 23. Prenat Diagn. 2024. PMID: 38520674

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].

Del Arco-Guzmán N, Lobato-López S, Calvo-Medina R, Vera-Medialdea R, Ruiz-Pérez C, Ramos-Fernández JM. Del Arco-Guzmán N, et al. Rev Neurol. 2024 Apr 1;78(7):179-183. doi: 10.33588/rn.7807.2023348. Rev Neurol. 2024. PMID: 38502166 Free article. Spanish.

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.

Zhang F, Guo H, Zhou X, Deng Z, Xu Q, Wang Q, Yuan H, Luo J. Zhang F, et al. BMC Pediatr. 2024 Mar 15;24(1):182. doi: 10.1186/s12887-024-04674-6. BMC Pediatr. 2024. PMID: 38491417 Free PMC article.

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.

Cenni V, Sabatelli P, Di Martino A, Merlini L, Antoniel M, Squarzoni S, Neri S, Santi S, Metti S, Bonaldo P, Faldini C. Cenni V, et al. Cells. 2024 Feb 22;13(5):378. doi: 10.3390/cells13050378. Cells. 2024. PMID: 38474342 Free PMC article.

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Belhassen I, Menassa R, Sakka S, Michel-Calemard L, Streichenberger N, Ayed DB, Bouattour N, Dammak M, Mhiri C. Belhassen I, et al. Acta Myol. 2023 Dec 31;42(4):106-112. doi: 10.36185/2532-1900-391. eCollection 2023. Acta Myol. 2023. PMID: 38406381 Free PMC article.

Comprehensive Analysis of the Complete Mitochondrial Genome of Rehmannia chingii: An Autotrophic Species in the Orobanchaceae Family.

Han Y, Feng YL, Wang J, Zhu SS, Jin XJ, Wu ZQ, Zhang YH. Han Y, et al. Genes (Basel). 2024 Jan 15;15(1):98. doi: 10.3390/genes15010098. Genes (Basel). 2024. PMID: 38254987 Free PMC article.

Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.

Souidi M, Resta J, Dridi H, Sleiman Y, Reiken S, Formoso K, Colombani S, Amédro P, Meyer P, Charrabi A, Vincenti M, Liu Y, Soni RK, Lezoualc'h F, Stéphane Blot DVM, Rivier F, Cazorla O, Parini A, Marks AR, Mialet-Perez J, Lacampagne A, Meli AC. Souidi M, et al. J Cachexia Sarcopenia Muscle. 2024 Apr;15(2):536-551. doi: 10.1002/jcsm.13411. Epub 2024 Jan 14. J Cachexia Sarcopenia Muscle. 2024. PMID: 38221511 Free PMC article.

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