PubMed (OMIM) for id: 8291

Year	Number of Results
1973	1
1981	1
1986	1
1988	1
1992	1
1993	1
1994	2
1995	2
1996	3
1997	1
1998	4
1999	6
2000	3
2001	3
2003	3
2004	2
2005	1
2006	3
2007	4
2008	3
2009	3
2010	2
2011	1
2018	1
2024	0

1

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.

2

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V. Cacciottolo M, et al. Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522182 Free PMC article.

3

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E. Santos R, et al. J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535123

4

Dysferlin overexpression in skeletal muscle produces a progressive myopathy.

Glover LE, Newton K, Krishnan G, Bronson R, Boyle A, Krivickas LS, Brown RH Jr. Glover LE, et al. Ann Neurol. 2010 Mar;67(3):384-93. doi: 10.1002/ana.21926. Ann Neurol. 2010. PMID: 20373350 Free PMC article.

5

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.

Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Chiu YH, et al. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286669 Free PMC article.

6

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

Pramono ZA, Tan CL, Seah IA, See JS, Kam SY, Lai PS, Yee WC. Pramono ZA, et al. Hum Genet. 2009 May;125(4):413-20. doi: 10.1007/s00439-009-0632-y. Epub 2009 Feb 17. Hum Genet. 2009. PMID: 19221801

7

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P. Paradas C, et al. Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084402

8

Dysferlin-deficient muscular dystrophy features amyloidosis.

Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C. Spuler S, et al. Ann Neurol. 2008 Mar;63(3):323-8. doi: 10.1002/ana.21309. Ann Neurol. 2008. PMID: 18306167

9

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Guglieri M, et al. Hum Mutat. 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. Hum Mutat. 2008. PMID: 17994539

10

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Nguyen K, et al. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176. Arch Neurol. 2007. PMID: 17698709

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