PubMed for id: 79147

Year	Number of Results
1993	2
1996	1
1999	1
2000	3
2001	3
2002	2
2003	5
2004	7
2005	7
2006	5
2007	6
2008	3
2009	5
2010	6
2011	6
2012	2
2013	1
2014	1
2015	3
2016	6
2017	6
2018	5
2019	2
2020	8
2021	7
2022	3
2023	2
2024	3

1

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.

Jensen SM, Friborg O, Mellgren SI, Müller KI, Bergvik S, Arntzen KA. Jensen SM, et al. J Neuromuscul Dis. 2024;11(1):59-74. doi: 10.3233/JND-221629. J Neuromuscul Dis. 2024. PMID: 37927270 Free PMC article.

2

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Jensen S, Abeler K, Friborg O, Rosner A, Olsborg C, Mellgren SI, Müller KI, Rosenberger AD, Vold ML, Arntzen KA. Jensen S, et al. J Neurol. 2024 Jan;271(1):274-288. doi: 10.1007/s00415-023-11978-7. Epub 2023 Sep 11. J Neurol. 2024. PMID: 37695533 Free PMC article.

3

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Unnikrishnan G, Polavarapu K, Bardhan M, Nashi S, Vengalil S, Preethish-Kumar V, Valasani RK, Huddar A, Nishadham V, Nandeesh BN, Nalini A. Unnikrishnan G, et al. J Neuromuscul Dis. 2023;10(4):615-626. doi: 10.3233/JND-221618. J Neuromuscul Dis. 2023. PMID: 37154180 Free PMC article.

4

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.

Ortiz-Cordero C, Bincoletto C, Dhoke NR, Selvaraj S, Magli A, Zhou H, Kim DH, Bang AG, Perlingeiro RCR. Ortiz-Cordero C, et al. Stem Cell Reports. 2021 Nov 9;16(11):2752-2767. doi: 10.1016/j.stemcr.2021.09.009. Epub 2021 Oct 14. Stem Cell Reports. 2021. PMID: 34653404 Free PMC article.

5

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.

Awano H, Saito Y, Shimizu M, Sekiguchi K, Niijima S, Matsuo M, Maegaki Y, Izumi I, Kikuchi C, Ishibashi M, Okazaki T, Komaki H, Iijima K, Nishino I. Awano H, et al. J Clin Neurosci. 2021 Oct;92:215-221. doi: 10.1016/j.jocn.2021.08.014. Epub 2021 Aug 28. J Clin Neurosci. 2021. PMID: 34509255

6

[Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].

Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T. Villar Quiles RN, et al. Med Sci (Paris). 2020 Dec;36 Hors série n° 2:28-33. doi: 10.1051/medsci/2020239. Epub 2021 Jan 11. Med Sci (Paris). 2020. PMID: 33427633 Free article. Review. French.

7

Fukutin-Related Protein: From Pathology to Treatments.

Ortiz-Cordero C, Azzag K, Perlingeiro RCR. Ortiz-Cordero C, et al. Trends Cell Biol. 2021 Mar;31(3):197-210. doi: 10.1016/j.tcb.2020.11.003. Epub 2020 Dec 1. Trends Cell Biol. 2021. PMID: 33272829 Free PMC article. Review.

8

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, Mathews KD. Libell EM, et al. Muscle Nerve. 2020 Nov;62(5):626-632. doi: 10.1002/mus.27052. Epub 2020 Sep 10. Muscle Nerve. 2020. PMID: 32914449 Free PMC article.

9

Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.

Gedlinske AM, Stephan CM, Mockler SRH, Laubscher KM, Laubenthal KS, Crockett CD, Zimmerman MB, Mathews KD. Gedlinske AM, et al. Neurology. 2020 Oct 13;95(15):e2131-e2139. doi: 10.1212/WNL.0000000000010604. Epub 2020 Aug 6. Neurology. 2020. PMID: 32764098 Free PMC article.

10

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Murphy LB, et al. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32342672 Free PMC article.

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