PubMed for id: 75730

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38052666,37926637,37634163,37559347,37422193,37042114,36847015,36691350,36192783,35484142,35112761,34225694,34170051,33825174,33352713,33214395,32270505,31462754,31455269,31267951,30860873,30837270,30736844,30455479,30412104,30407211,30395865,30385167,30273399,30240477,29485812,29284302,28765176,28764801,28590779,28411356,28303574,28246169,28168361,28011929,27980005,27854203,27709505,27592148,27507886,27506982,27482763,27152426,26494409,26194912,25903302,25528855,25528830,25500011,25283883,24896153,24486325,24449978,24362886,24310666,24091664,24008050,23838601,23831596,23793615,23768727,23426270,23375728,23074842,22860700,22817818,22618301,22570486,22519734,22502866,22249111,22231868,22001477,21956377,21933806,21794876,21742497,21647273,21602480,21545772,21503690,21371731,21340522,21316245,21242490,21089175,20722626,20585803,20546644,20436523,20207626,20184794,20151198,20041717,19704078,19484687,19101703,19080757,18577936,18577654,18503509,18432080,18397876,18205394,18178579,18175083,17550990,17418585,17296297,17213188,17206657,17138075,17110089,17005403,16860991,16648376,16619122,16481821,16333769,16319127,16311254,16239242,16101680,16022469,15864313,15822551,15755682,15725589,15694141,15645184,15377709,15206442,15150706,14988608,14727564,14714051,14663186,14648146,14645203,14627730,14526187,12944420,12823221,12673802,12619777,12464734,12464544,12370650,38213032,38165364,37923656,37849345,37182896,36649629,36476314,36462961,35859342,35319169,35244767,35120077,35030153,34334411,34292466,33916195,33876991,33712258,33655764,33533561,32925090,32804098,31833892,31769567,31743248,31537606,31531865,31066242,30847674,30688154,30575974,30561392,30530568,29770361,29725764,29161160,29144056,29102430,27809552,27759888,27541941,27453229,27421916,26948710,26866330,26453481,26264513,26242815,25677583,25649531,25321879,25282463,25198392,24611576,24599829,24551336,24463401,24409954,24266892,24259282,24199812,23966250,23612654,23601051,23468283,23453859,23453626,23410918,23399899,23387448,23302282,23177757,22977166,22898142,22711161,22493036,22297459,22279879,22215544,21805106,21761307,21683316,21599428,21567961,21563873,21204267,21182140,21041087,20931438,20699340,20689305,20226184,20181517,19641605,19300150,19185491,19068065,18929761,18481858,18358598,18270238,17497757,17470887,17235467,17229142,17040985,16890071,16550930,16421137,16378590,16114037,15673864,14976164,14718463,12969556,12945950,12779254,38566645,38552265,38541046,38534502,38526423,38500158,38433259,38419239,38406907,38403144,38387666,38384675,38384046,38380784,38375389,38375370,38370370,38368395,38339358,38309198,38303850,38302981,38295615,38293426,38283580,38283029,38268382,38264399,38247942,38225483,38161840,38147181,38130424,38126373,38073011,38051932,38033949,38024143,38015343,38009492,38007344,37992145,37974842,37958429,37894739,37893561,37887710,37877476,37854918,37818545,37817274,37787211,37772212,37764094,37754329,37711518,37709140,37698929,37697274,37693161,37666247,37654386,37646520,37568595,37563059,37519616,37483025,37406376,37404654,37400941,37398714,37378204,37367926,37354753,37330964,37303447,37293562,37265065,37256658,37222098,37194791,37190121,37161457,37147974,37109704,37109048,37089445,37082055,37037738,37036407,37021228,37013557,37002194,36980727,36976779,36966276,36963644,36912418,36820942,36804163,36799652,36790256,36790141,36753801,36732296,36700192,36690193,36684262,36671795,36657275,36651622,36643266,36643261,36622735,36612284,36601247,36579984,36549944,36548207,36545225,36510971,36452790,36444605,36401444,36325600,36313551,36299311,36261286,36233242,36189128,36178005,36172973,36153299,36119104,36110790,36088397,36035812,36010285,36009387,36005472,36001628,35968185,35957472,35888599,35870153,35832820,35814878,35809828,35792047,35756801,35756791,35756782,35756767,35722241,35681677,35664948,35653817,35633545,35624733,35571314,35563222,35534195,35530364,35458531,35436787,35436572,35406587,35360978,35345377,35338326,35326543,35313657,35227496,35192945,35159101,35153436,35134591,35117671,35091134,35065330,35047997,35028023,34927285,34891214,34880265,34831531,34830663,34824517,34745263,34711164,34706366,34703130,34689827,34638327,34629065,34615554,34558734,34503221,34490052,34452541,34435180,34380753,34377662,34371451,34359571,34359370,34349437,34342761,34334380,34324758,34319052,34318767,34303542,34282854,34209963,34199471,34193432,34181324,34178453,34148471,34141098,34139286,34137781,34133031,34047774,34018388,34001010,33984051,33972745,33899256[uid]

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HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.

Carroll LS, Ennis S, Foulds N, Hammans SR. Carroll LS, et al. Neuromuscul Disord. 2024 Jan;34:27-31. doi: 10.1016/j.nmd.2023.11.002. Epub 2023 Nov 17. Neuromuscul Disord. 2024. PMID: 38052666

Emerging and established biomarkers of oculopharyngeal muscular dystrophy.

Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J. Smith IC, et al. Neuromuscul Disord. 2023 Nov;33(11):824-834. doi: 10.1016/j.nmd.2023.09.010. Epub 2023 Oct 6. Neuromuscul Disord. 2023. PMID: 37926637 Review.

Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.

Eura N, Noguchi S, Ogasawara M, Kumutpongpanich T, Hayashi S, Nishino I; OPDM/OPMD Image Study Group. Eura N, et al. J Neurol. 2023 Dec;270(12):5988-5998. doi: 10.1007/s00415-023-11906-9. Epub 2023 Aug 27. J Neurol. 2023. PMID: 37634163

Oculopharyngeal muscular dystrophy mutations link the RNA-binding protein HNRNPQ to autophagosome biogenesis.

Ishtayeh H, Galves M, Barnatan TT, Berdichevsky Y, Amer-Sarsour F, Pasmanik-Chor M, Braverman I, Blumen SC, Ashkenazi A. Ishtayeh H, et al. Aging Cell. 2023 Oct;22(10):e13949. doi: 10.1111/acel.13949. Epub 2023 Aug 9. Aging Cell. 2023. PMID: 37559347 Free PMC article.

PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.

Guan WL, Jiang LL, Yin XF, Hu HY. Guan WL, et al. J Biol Chem. 2023 Aug;299(8):105019. doi: 10.1016/j.jbc.2023.105019. Epub 2023 Jul 7. J Biol Chem. 2023. PMID: 37422193 Free PMC article.

The small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response.

Naït-Saïdi R, Chartier A, Abgueguen E, Guédat P, Simonelig M. Naït-Saïdi R, et al. Open Biol. 2023 Apr;13(4):230008. doi: 10.1098/rsob.230008. Epub 2023 Apr 12. Open Biol. 2023. PMID: 37042114 Free PMC article.

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.

Takahashi Y, Morimoto N, Nada T, Morimoto M, Eura N, Minami N, Nishino I. Takahashi Y, et al. J Neuromuscul Dis. 2023;10(3):459-463. doi: 10.3233/JND-221669. J Neuromuscul Dis. 2023. PMID: 36847015 Free PMC article.

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.

Lin F, Yang K, Lin MT, Zheng FZ, Chen L, Ding YL, Ye ZX, Lin X, Wang N, Wang ZQ. Lin F, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):426-439. doi: 10.1002/acn3.51733. Epub 2023 Jan 23. Ann Clin Transl Neurol. 2023. PMID: 36691350 Free PMC article.

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.

Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS. Khan ZR, et al. J Med Case Rep. 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6. J Med Case Rep. 2022. PMID: 36192783 Free PMC article.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.

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