PubMed (OMIM) for id: 10049

Year	Number of Results
1967	1
1969	1
1971	1
1986	1
1992	1
1995	1
1999	3
2000	2
2002	1
2003	1
2007	1
2010	1
2011	1
2012	2
2014	2
2015	2
2018	1
2019	1
2020	1
2024	0

1

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada; Boycott KM, Melegh B, Hadzsiev K. Zima J, et al. Eur J Med Genet. 2020 Feb;63(2):103655. doi: 10.1016/j.ejmg.2019.04.012. Epub 2019 Apr 27. Eur J Med Genet. 2020. PMID: 31034989

2

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group. Straub V, et al. Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. Neuromuscul Disord. 2018. PMID: 30055862 No abstract available.

3

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.

Bengoechea R, Pittman SK, Tuck EP, True HL, Weihl CC. Bengoechea R, et al. Hum Mol Genet. 2015 Dec 1;24(23):6588-602. doi: 10.1093/hmg/ddv363. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362252 Free PMC article.

4

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA. Ruggieri A, et al. Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0. Acta Neuropathol Commun. 2015. PMID: 26205529 Free PMC article.

5

Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.

Stein KC, Bengoechea R, Harms MB, Weihl CC, True HL. Stein KC, et al. J Biol Chem. 2014 Jul 25;289(30):21120-30. doi: 10.1074/jbc.M114.572461. J Biol Chem. 2014. PMID: 24920671 Free PMC article.

6

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD. Couthouis J, et al. Neuromuscul Disord. 2014 May;24(5):431-5. doi: 10.1016/j.nmd.2014.01.014. Epub 2014 Feb 10. Neuromuscul Disord. 2014. PMID: 24594375 Free PMC article.

7

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

8

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Harms MB, et al. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. Ann Neurol. 2012. PMID: 22334415 Free PMC article.

9

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B. Hackman P, et al. Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3. Neuromuscul Disord. 2011. PMID: 21376592

10

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, Hackman P, Udd B. Sandell S, et al. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682716

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