PubMed for id: 322993

Year	Number of Results
1982	1
1989	1
1990	1
1992	2
1993	1
1994	3
1995	1
1996	4
1997	3
1998	3
1999	8
2000	6
2001	7
2002	4
2003	7
2004	9
2005	2
2006	4
2007	2
2008	5
2009	3
2010	2
2011	5
2012	7
2013	8
2014	6
2015	2
2016	3
2017	2
2018	4
2019	4
2020	7
2021	5
2022	5
2023	2

1

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Eur J Hum Genet. 2004 Dec;12(12):1033-40. doi: 10.1038/sj.ejhg.5201289. Eur J Hum Genet. 2004. PMID: 15367920

2

hnRNPDL Phase Separation Is Regulated by Alternative Splicing and Disease-Causing Mutations Accelerate Its Aggregation.

Batlle C, Yang P, Coughlin M, Messing J, Pesarrodona M, Szulc E, Salvatella X, Kim HJ, Taylor JP, Ventura S. Batlle C, et al. Cell Rep. 2020 Jan 28;30(4):1117-1128.e5. doi: 10.1016/j.celrep.2019.12.080. Cell Rep. 2020. PMID: 31995753 Free PMC article.

3

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, Dubrovsky A, Bui MT, Brochier G, Saccoliti M, Bohm J, Udd B, Laporte J, Romero NB, Taratuto AL. Berardo A, et al. J Neurol. 2019 Oct;266(10):2524-2534. doi: 10.1007/s00415-019-09437-3. Epub 2019 Jul 2. J Neurol. 2019. PMID: 31267206

4

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.

Sun Y, Chen H, Lu Y, Duo J, Lei L, OuYang Y, Hao Y, Da Y, Shen XM. Sun Y, et al. J Neurol. 2019 Feb;266(2):498-506. doi: 10.1007/s00415-018-9165-4. Epub 2019 Jan 2. J Neurol. 2019. PMID: 30604053

5

Genetic basis of limb-girdle muscular dystrophies: the 2014 update.

Nigro V, Savarese M. Nigro V, et al. Acta Myol. 2014 May;33(1):1-12. Acta Myol. 2014. PMID: 24843229 Free PMC article. Review.

6

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604

7

Ins and outs of therapy in limb girdle muscular dystrophies.

Danièle N, Richard I, Bartoli M. Danièle N, et al. Int J Biochem Cell Biol. 2007;39(9):1608-24. doi: 10.1016/j.biocel.2007.02.005. Epub 2007 Feb 12. Int J Biochem Cell Biol. 2007. PMID: 17339125 Review.

8

Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure.

Finsterer J, Stöllberger C, Keller H, Laccone F. Finsterer J, et al. J Neurosci Rural Pract. 2020 Apr;11(2):353-354. doi: 10.1055/s-0040-1709375. Epub 2020 May 2. J Neurosci Rural Pract. 2020. PMID: 32367994 Free PMC article.

9

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

Paim JF, Cotta A, Vargas AP, Navarro MM, Valicek J, Carvalho E, da-Cunha AL Jr, Plentz E, Braz SV, Takata RI, Almeida CF, Vainzof M. Paim JF, et al. J Mol Neurosci. 2013 Jun;50(2):339-44. doi: 10.1007/s12031-013-9987-6. Epub 2013 Mar 12. J Mol Neurosci. 2013. PMID: 23479141

10

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Park J, Moon YJ, Kim DS. Park J, et al. Genes (Basel). 2023 Jan 12;14(1):200. doi: 10.3390/genes14010200. Genes (Basel). 2023. PMID: 36672942 Free PMC article. Review.

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