PubMed for id: 324735

Year	Number of Results
1975	1
1976	1
1980	1
1981	2
1982	1
1984	1
1985	1
1988	1
1990	1
1993	1
1994	2
1996	1
1997	1
1998	1
1999	1
2000	1
2001	2
2002	1
2003	2
2004	5
2005	6
2006	4
2007	5
2008	4
2009	9
2010	6
2011	3
2012	5
2013	9
2014	7
2015	9
2016	10
2017	11
2018	9
2019	5
2020	10
2021	6
2022	9
2023	3
2024	2

1

CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.

Ha C, Kim D, Bak M, Park JH, Kim YG, Jang JH, Kim JW, Choi JO, Jang MA. Ha C, et al. J Hum Genet. 2024 Apr;69(3-4):159-162. doi: 10.1038/s10038-023-01218-1. Epub 2024 Jan 12. J Hum Genet. 2024. PMID: 38212463

2

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

de Fuenmayor-Fernández de la Hoz CP, Lupo V, Bermejo-Guerrero L, Martín-Jiménez P, Hernández-Laín A, Olivé M, Gallardo E, Esteban-Pérez J, Espinós C, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. J Neurol. 2024 Feb;271(2):986-994. doi: 10.1007/s00415-023-12039-9. Epub 2023 Oct 31. J Neurol. 2024. PMID: 37907725

3

Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham's razor to its various features.

Padberg GW, van Engelen BGM, Voermans NC. Padberg GW, et al. J Neuromuscul Dis. 2023;10(3):411-425. doi: 10.3233/JND-221624. J Neuromuscul Dis. 2023. PMID: 36872787

4

ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.

Zech ATL, Prondzynski M, Singh SR, Pietsch N, Orthey E, Alizoti E, Busch J, Madsen A, Behrens CS, Meyer-Jens M, Mearini G, Lemoine MD, Krämer E, Mosqueira D, Virdi S, Indenbirken D, Depke M, Salazar MG, Völker U, Braren I, Pu WT, Eschenhagen T, Hammer E, Schlossarek S, Carrier L. Zech ATL, et al. Cells. 2022 Sep 2;11(17):2745. doi: 10.3390/cells11172745. Cells. 2022. PMID: 36078153 Free PMC article.

5

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.

6

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Silva AMS, Rodrigo P, Moreno CAM, Mendonça RH, Estephan EP, Camelo CG, Campos ED, Dias AT, Nascimento AM, Kulikowski LD, Oliveira ASB, Reed UC, Goldfarb LG, Olivé M, Zanoteli E. Silva AMS, et al. J Neuropathol Exp Neurol. 2022 Aug 16;81(9):746-757. doi: 10.1093/jnen/nlac063. J Neuropathol Exp Neurol. 2022. PMID: 35898174

7

Sphingomyelinase activity promotes atrophy and attenuates force in human muscle fibres and is elevated in heart failure patients.

Olsson K, Cheng AJ, Al-Ameri M, Tardif N, Melin M, Rooyackers O, Lanner JT, Westerblad H, Gustafsson T, Bruton JD, Rullman E. Olsson K, et al. J Cachexia Sarcopenia Muscle. 2022 Oct;13(5):2551-2561. doi: 10.1002/jcsm.13029. Epub 2022 Jul 18. J Cachexia Sarcopenia Muscle. 2022. PMID: 35852046 Free PMC article.

8

Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.

9

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.

Huang K, Duan HQ, Li QX, Luo YB, Bi FF, Yang H. Huang K, et al. J Cell Mol Med. 2022 Jul;26(14):3828-3836. doi: 10.1111/jcmm.17417. Epub 2022 Jun 6. J Cell Mol Med. 2022. PMID: 35670010 Free PMC article.

10

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL. Valberg SJ, et al. Equine Vet J. 2023 Mar;55(2):230-238. doi: 10.1111/evj.13574. Epub 2022 Apr 1. Equine Vet J. 2023. PMID: 35288976 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

142 results

Results by year