Limb–girdle muscular dystrophy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Limb–girdle muscular dystrophy" in English language version.

refsWebsite

Global rank English rank

43nih.gov

4^th place

20doi.org

2^nd place

6worldcat.org

5^th place

5semanticscholar.org

11^th place

8^th place

1books.google.com

3^rd place

1medlineplus.gov

1,581^st place

1,299^th place

1medscape.com

719^th place

636^th place

1patient.info

low place

7,180^th place

1harvard.edu

18^th place

17^th place

1archives-ouvertes.fr

1,031^st place

879^th place

1omim.org

4,380^th place

4,305^th place

archives-ouvertes.fr

hal.archives-ouvertes.fr

Benarroch, Louise; Bonne, Gisèle; Rivier, François; Hamroun, Dalil (December 2020). "The 2021 version of the gene table of neuromuscular disorders (nuclear genome)" (PDF). Neuromuscular Disorders. 30 (12): 1008–1048. doi:10.1016/j.nmd.2020.11.009. PMID 33257164. S2CID 227123684.

books.google.com

Newfoundland, FRCP William Pryse-Phillips MD, FRCP(C) Faculty of Medicine Health Sciences Centre Memorial University of Newfoundland St John's (2009-05-06). Companion to Clinical Neurology. Oxford University Press, USA. p. 579. ISBN 9780199710041.{{cite book}}: CS1 maint: multiple names: authors list (link)

doi.org

Straub, V; Murphy, A; Udd, B; LGMD workshop study, group. (August 2018). "229th ENMC international workshop: Limb-girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029.
Narayanaswami, Pushpa; Weiss, Michael; Selcen, Duygu; David, William; Raynor, Elizabeth; Carter, Gregory; Wicklund, Matthew; Barohn, Richard J.; Ensrud, Erik (2014-10-14). "Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi:10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. PMID 25313375.
Wicklund, MP (December 2019). "The Limb-Girdle Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1599–1618. doi:10.1212/CON.0000000000000809. PMID 31794462. S2CID 208531741.
Barton, ER; Pacak, CA; Stoppel, WL; Kang, PB (29 July 2020). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. PMC 7389686. PMID 32727611.
Pozsgai, E; Griffin, D; Potter, R; Sahenk, Z; Lehman, K; Rodino-Klapac, LR; Mendell, JR (October 2021). "Unmet needs and evolving treatment for limb girdle muscular dystrophies". Neurodegenerative Disease Management. 11 (5): 411–429. doi:10.2217/nmt-2020-0066. PMID 34472379. S2CID 237389009.
Morales-Rosado JA, Schwab TL, et al. (2023-06-01). "Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy". American Journal of Human Genetics. 110 (6): 989–997. doi:10.1016/j.ajhg.2023.04.006. PMC 10257193. PMID 37167966.
Murphy, AP; Straub, V (22 July 2015). "The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies". Journal of Neuromuscular Diseases. 2 (s2): S7 – S19. doi:10.3233/JND-150105. PMC 5271430. PMID 27858764.
Macias, Anna; Fichna, Jakub Piotr; Topolewska, Malgorzata; Rȩdowicz, Maria J.; Kaminska, Anna M.; Kostera-Pruszczyk, Anna (2021). "Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients". Frontiers in Neuroscience. 15: 692482. doi:10.3389/fnins.2021.692482. ISSN 1662-4548. PMC 8551377. PMID 34720847.
Fichna JP, Macias A, Piechota M, Korostynski M, Potulska-Chromik A, Redowicz MJ, Zekanowski C (July 2018). "Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients". Human Genomics. 12 (1): 34. doi:10.1186/s40246-018-0167-1. PMC 6029161. PMID 29970176.
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (November 2009). "Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population". Brain. 11 (132): 3175–3186. doi:10.1093/brain/awp236. PMC 8551377. PMID 34720847.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS (February 2023). "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone". Proc Natl Acad Sci U S A. 120 (7): e2217831120. Bibcode:2023PNAS..12017831Y. doi:10.1073/pnas.2217831120. PMC 9963716. PMID 36745799.
Lasa-Elgarresta, J; Mosqueira-Martín, L; Naldaiz-Gastesi, N; Sáenz, A; López de Munain, A; Vallejo-Illarramendi, A (13 September 2019). "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations". International Journal of Molecular Sciences. 20 (18): 4548. doi:10.3390/ijms20184548. PMC 6770289. PMID 31540302.
Benarroch, Louise; Bonne, Gisèle; Rivier, François; Hamroun, Dalil (December 2020). "The 2021 version of the gene table of neuromuscular disorders (nuclear genome)" (PDF). Neuromuscular Disorders. 30 (12): 1008–1048. doi:10.1016/j.nmd.2020.11.009. PMID 33257164. S2CID 227123684.
Coppens, S; Barnard, AM; Puusepp, S; Pajusalu, S; Õunap, K; Vargas-Franco, D; Bruels, CC; Donkervoort, S; Pais, L; Chao, KR; Goodrich, JK; England, EM; Weisburd, B; Ganesh, VS; Gudmundsson, S; O'Donnell-Luria, A; Nigul, M; Ilves, P; Mohassel, P; Siddique, T; Milone, M; Nicolau, S; Maroofian, R; Houlden, H; Hanna, MG; Quinlivan, R; Beiraghi Toosi, M; Ghayoor Karimiani, E; Costagliola, S; Deconinck, N; Kadhim, H; Macke, E; Lanpher, BC; Klee, EW; Łusakowska, A; Kostera-Pruszczyk, A; Hahn, A; Schrank, B; Nishino, I; Ogasawara, M; El Sherif, R; Stojkovic, T; Nelson, I; Bonne, G; Cohen, E; Boland-Augé, A; Deleuze, JF; Meng, Y; Töpf, A; Vilain, C; Pacak, CA; Rivera-Zengotita, ML; Bönnemann, CG; Straub, V; Handford, PA; Draper, I; Walter, GA; Kang, PB (6 May 2021). "A form of muscular dystrophy associated with pathogenic variants in JAG2". American Journal of Human Genetics. 108 (5): 840–856. doi:10.1016/j.ajhg.2021.03.020. PMC 8206160. PMID 33861953.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.
Bockhorst, J; Wicklund, M (August 2020). "Limb Girdle Muscular Dystrophies". Neurologic Clinics. 38 (3): 493–504. doi:10.1016/j.ncl.2020.03.009. PMID 32703463. S2CID 220730696.
Bisceglia, Luigi; Zoccolella, Stefano; Torraco, Alessandra; Piemontese, Maria Rosaria; Dell'Aglio, Rosa; Amati, Angela; De Bonis, Patrizia; Artuso, Lucia; Copetti, Massimiliano; Santorelli, Filippo Maria; Serlenga, Luigi; Zelante, Leopoldo; Bertini, Enrico; Petruzzella, Vittoria (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. ISSN 1476-5438. PMC 2987336. PMID 20068593.
Lee, Joshua J. A.; Maruyama, Rika; Duddy, William; Sakurai, Hidetoshi; Yokota, Toshifumi (2018-12-07). "Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy". Molecular Therapy. Nucleic Acids. 13: 596–604. doi:10.1016/j.omtn.2018.10.004. ISSN 2162-2531. PMC 6234522. PMID 30439648.
Bengtsson, Niclas E.; Seto, Jane T.; Hall, John K.; Chamberlain, Jeffrey S.; Odom, Guy L. (2016-04-15). "Progress and prospects of gene therapy clinical trials for the muscular dystrophies". Human Molecular Genetics. 25 (R1): R9 – R17. doi:10.1093/hmg/ddv420. ISSN 0964-6906. PMC 4802376. PMID 26450518.
Straub, Volker; Bertoli, Marta (February 2016). "Where do we stand in trial readiness for autosomal recessive limb-girdle muscular dystrophies?". Neuromuscular Disorders. 26 (2): 111–125. doi:10.1016/j.nmd.2015.11.012. PMID 26810373.

harvard.edu

ui.adsabs.harvard.edu

Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS (February 2023). "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone". Proc Natl Acad Sci U S A. 120 (7): e2217831120. Bibcode:2023PNAS..12017831Y. doi:10.1073/pnas.2217831120. PMC 9963716. PMID 36745799.

medlineplus.gov

MedlinePlus Encyclopedia: Limb-girdle muscular dystrophies

medscape.com

emedicine.medscape.com

"Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". eMedicine. 27 September 2023. Retrieved 4 January 2024.

nih.gov

pubmed.ncbi.nlm.nih.gov

Straub, V; Murphy, A; Udd, B; LGMD workshop study, group. (August 2018). "229th ENMC international workshop: Limb-girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029.
Narayanaswami, Pushpa; Weiss, Michael; Selcen, Duygu; David, William; Raynor, Elizabeth; Carter, Gregory; Wicklund, Matthew; Barohn, Richard J.; Ensrud, Erik (2014-10-14). "Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi:10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. PMID 25313375.
Wicklund, MP (December 2019). "The Limb-Girdle Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1599–1618. doi:10.1212/CON.0000000000000809. PMID 31794462. S2CID 208531741.
Barton, ER; Pacak, CA; Stoppel, WL; Kang, PB (29 July 2020). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. PMC 7389686. PMID 32727611.
Pozsgai, E; Griffin, D; Potter, R; Sahenk, Z; Lehman, K; Rodino-Klapac, LR; Mendell, JR (October 2021). "Unmet needs and evolving treatment for limb girdle muscular dystrophies". Neurodegenerative Disease Management. 11 (5): 411–429. doi:10.2217/nmt-2020-0066. PMID 34472379. S2CID 237389009.
Morales-Rosado JA, Schwab TL, et al. (2023-06-01). "Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy". American Journal of Human Genetics. 110 (6): 989–997. doi:10.1016/j.ajhg.2023.04.006. PMC 10257193. PMID 37167966.
Murphy, AP; Straub, V (22 July 2015). "The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies". Journal of Neuromuscular Diseases. 2 (s2): S7 – S19. doi:10.3233/JND-150105. PMC 5271430. PMID 27858764.
Pegoraro, Elena; Hoffman, Eric P. (1993-01-01). "Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Limb-Girdle Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301582.update 2012
Macias, Anna; Fichna, Jakub Piotr; Topolewska, Malgorzata; Rȩdowicz, Maria J.; Kaminska, Anna M.; Kostera-Pruszczyk, Anna (2021). "Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients". Frontiers in Neuroscience. 15: 692482. doi:10.3389/fnins.2021.692482. ISSN 1662-4548. PMC 8551377. PMID 34720847.
Fichna JP, Macias A, Piechota M, Korostynski M, Potulska-Chromik A, Redowicz MJ, Zekanowski C (July 2018). "Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients". Human Genomics. 12 (1): 34. doi:10.1186/s40246-018-0167-1. PMC 6029161. PMID 29970176.
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (November 2009). "Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population". Brain. 11 (132): 3175–3186. doi:10.1093/brain/awp236. PMC 8551377. PMID 34720847.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS (February 2023). "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone". Proc Natl Acad Sci U S A. 120 (7): e2217831120. Bibcode:2023PNAS..12017831Y. doi:10.1073/pnas.2217831120. PMC 9963716. PMID 36745799.
Lasa-Elgarresta, J; Mosqueira-Martín, L; Naldaiz-Gastesi, N; Sáenz, A; López de Munain, A; Vallejo-Illarramendi, A (13 September 2019). "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations". International Journal of Molecular Sciences. 20 (18): 4548. doi:10.3390/ijms20184548. PMC 6770289. PMID 31540302.
Aoki, Masashi (March 5, 2015). "Dysferlinopathy". GeneReviews. PMID 20301480.
Benarroch, Louise; Bonne, Gisèle; Rivier, François; Hamroun, Dalil (December 2020). "The 2021 version of the gene table of neuromuscular disorders (nuclear genome)" (PDF). Neuromuscular Disorders. 30 (12): 1008–1048. doi:10.1016/j.nmd.2020.11.009. PMID 33257164. S2CID 227123684.
Coppens, S; Barnard, AM; Puusepp, S; Pajusalu, S; Õunap, K; Vargas-Franco, D; Bruels, CC; Donkervoort, S; Pais, L; Chao, KR; Goodrich, JK; England, EM; Weisburd, B; Ganesh, VS; Gudmundsson, S; O'Donnell-Luria, A; Nigul, M; Ilves, P; Mohassel, P; Siddique, T; Milone, M; Nicolau, S; Maroofian, R; Houlden, H; Hanna, MG; Quinlivan, R; Beiraghi Toosi, M; Ghayoor Karimiani, E; Costagliola, S; Deconinck, N; Kadhim, H; Macke, E; Lanpher, BC; Klee, EW; Łusakowska, A; Kostera-Pruszczyk, A; Hahn, A; Schrank, B; Nishino, I; Ogasawara, M; El Sherif, R; Stojkovic, T; Nelson, I; Bonne, G; Cohen, E; Boland-Augé, A; Deleuze, JF; Meng, Y; Töpf, A; Vilain, C; Pacak, CA; Rivera-Zengotita, ML; Bönnemann, CG; Straub, V; Handford, PA; Draper, I; Walter, GA; Kang, PB (6 May 2021). "A form of muscular dystrophy associated with pathogenic variants in JAG2". American Journal of Human Genetics. 108 (5): 840–856. doi:10.1016/j.ajhg.2021.03.020. PMC 8206160. PMID 33861953.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.
Siciliano G, Simoncini C, Giannotti S, Zampa V, Angelini C, Ricci G (2015). "Muscle exercise in limb-girdle muscular dystrophies: pitfall and advantages". Acta Myologica. 34 (1): 3–8. PMC 4478773. PMID 26155063.
Bockhorst, J; Wicklund, M (August 2020). "Limb Girdle Muscular Dystrophies". Neurologic Clinics. 38 (3): 493–504. doi:10.1016/j.ncl.2020.03.009. PMID 32703463. S2CID 220730696.
Bisceglia, Luigi; Zoccolella, Stefano; Torraco, Alessandra; Piemontese, Maria Rosaria; Dell'Aglio, Rosa; Amati, Angela; De Bonis, Patrizia; Artuso, Lucia; Copetti, Massimiliano; Santorelli, Filippo Maria; Serlenga, Luigi; Zelante, Leopoldo; Bertini, Enrico; Petruzzella, Vittoria (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. ISSN 1476-5438. PMC 2987336. PMID 20068593.
Lee, Joshua J. A.; Maruyama, Rika; Duddy, William; Sakurai, Hidetoshi; Yokota, Toshifumi (2018-12-07). "Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy". Molecular Therapy. Nucleic Acids. 13: 596–604. doi:10.1016/j.omtn.2018.10.004. ISSN 2162-2531. PMC 6234522. PMID 30439648.
Bengtsson, Niclas E.; Seto, Jane T.; Hall, John K.; Chamberlain, Jeffrey S.; Odom, Guy L. (2016-04-15). "Progress and prospects of gene therapy clinical trials for the muscular dystrophies". Human Molecular Genetics. 25 (R1): R9 – R17. doi:10.1093/hmg/ddv420. ISSN 0964-6906. PMC 4802376. PMID 26450518.
Straub, Volker; Bertoli, Marta (February 2016). "Where do we stand in trial readiness for autosomal recessive limb-girdle muscular dystrophies?". Neuromuscular Disorders. 26 (2): 111–125. doi:10.1016/j.nmd.2015.11.012. PMID 26810373.

ncbi.nlm.nih.gov

Narayanaswami, Pushpa; Weiss, Michael; Selcen, Duygu; David, William; Raynor, Elizabeth; Carter, Gregory; Wicklund, Matthew; Barohn, Richard J.; Ensrud, Erik (2014-10-14). "Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi:10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. PMID 25313375.
Barton, ER; Pacak, CA; Stoppel, WL; Kang, PB (29 July 2020). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. PMC 7389686. PMID 32727611.
Morales-Rosado JA, Schwab TL, et al. (2023-06-01). "Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy". American Journal of Human Genetics. 110 (6): 989–997. doi:10.1016/j.ajhg.2023.04.006. PMC 10257193. PMID 37167966.
Murphy, AP; Straub, V (22 July 2015). "The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies". Journal of Neuromuscular Diseases. 2 (s2): S7 – S19. doi:10.3233/JND-150105. PMC 5271430. PMID 27858764.
Pegoraro, Elena; Hoffman, Eric P. (1993-01-01). "Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Limb-Girdle Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301582.update 2012
Macias, Anna; Fichna, Jakub Piotr; Topolewska, Malgorzata; Rȩdowicz, Maria J.; Kaminska, Anna M.; Kostera-Pruszczyk, Anna (2021). "Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients". Frontiers in Neuroscience. 15: 692482. doi:10.3389/fnins.2021.692482. ISSN 1662-4548. PMC 8551377. PMID 34720847.
Fichna JP, Macias A, Piechota M, Korostynski M, Potulska-Chromik A, Redowicz MJ, Zekanowski C (July 2018). "Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients". Human Genomics. 12 (1): 34. doi:10.1186/s40246-018-0167-1. PMC 6029161. PMID 29970176.
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (November 2009). "Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population". Brain. 11 (132): 3175–3186. doi:10.1093/brain/awp236. PMC 8551377. PMID 34720847.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS (February 2023). "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone". Proc Natl Acad Sci U S A. 120 (7): e2217831120. Bibcode:2023PNAS..12017831Y. doi:10.1073/pnas.2217831120. PMC 9963716. PMID 36745799.
Lasa-Elgarresta, J; Mosqueira-Martín, L; Naldaiz-Gastesi, N; Sáenz, A; López de Munain, A; Vallejo-Illarramendi, A (13 September 2019). "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations". International Journal of Molecular Sciences. 20 (18): 4548. doi:10.3390/ijms20184548. PMC 6770289. PMID 31540302.
Aoki, Masashi (March 5, 2015). "Dysferlinopathy". GeneReviews. PMID 20301480.
Coppens, S; Barnard, AM; Puusepp, S; Pajusalu, S; Õunap, K; Vargas-Franco, D; Bruels, CC; Donkervoort, S; Pais, L; Chao, KR; Goodrich, JK; England, EM; Weisburd, B; Ganesh, VS; Gudmundsson, S; O'Donnell-Luria, A; Nigul, M; Ilves, P; Mohassel, P; Siddique, T; Milone, M; Nicolau, S; Maroofian, R; Houlden, H; Hanna, MG; Quinlivan, R; Beiraghi Toosi, M; Ghayoor Karimiani, E; Costagliola, S; Deconinck, N; Kadhim, H; Macke, E; Lanpher, BC; Klee, EW; Łusakowska, A; Kostera-Pruszczyk, A; Hahn, A; Schrank, B; Nishino, I; Ogasawara, M; El Sherif, R; Stojkovic, T; Nelson, I; Bonne, G; Cohen, E; Boland-Augé, A; Deleuze, JF; Meng, Y; Töpf, A; Vilain, C; Pacak, CA; Rivera-Zengotita, ML; Bönnemann, CG; Straub, V; Handford, PA; Draper, I; Walter, GA; Kang, PB (6 May 2021). "A form of muscular dystrophy associated with pathogenic variants in JAG2". American Journal of Human Genetics. 108 (5): 840–856. doi:10.1016/j.ajhg.2021.03.020. PMC 8206160. PMID 33861953.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.
Siciliano G, Simoncini C, Giannotti S, Zampa V, Angelini C, Ricci G (2015). "Muscle exercise in limb-girdle muscular dystrophies: pitfall and advantages". Acta Myologica. 34 (1): 3–8. PMC 4478773. PMID 26155063.
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Lee, Joshua J. A.; Maruyama, Rika; Duddy, William; Sakurai, Hidetoshi; Yokota, Toshifumi (2018-12-07). "Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy". Molecular Therapy. Nucleic Acids. 13: 596–604. doi:10.1016/j.omtn.2018.10.004. ISSN 2162-2531. PMC 6234522. PMID 30439648.
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ghr.nlm.nih.gov

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worldcat.org

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Narayanaswami, Pushpa; Weiss, Michael; Selcen, Duygu; David, William; Raynor, Elizabeth; Carter, Gregory; Wicklund, Matthew; Barohn, Richard J.; Ensrud, Erik (2014-10-14). "Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi:10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. PMID 25313375.
Macias, Anna; Fichna, Jakub Piotr; Topolewska, Malgorzata; Rȩdowicz, Maria J.; Kaminska, Anna M.; Kostera-Pruszczyk, Anna (2021). "Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients". Frontiers in Neuroscience. 15: 692482. doi:10.3389/fnins.2021.692482. ISSN 1662-4548. PMC 8551377. PMID 34720847.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.
Bisceglia, Luigi; Zoccolella, Stefano; Torraco, Alessandra; Piemontese, Maria Rosaria; Dell'Aglio, Rosa; Amati, Angela; De Bonis, Patrizia; Artuso, Lucia; Copetti, Massimiliano; Santorelli, Filippo Maria; Serlenga, Luigi; Zelante, Leopoldo; Bertini, Enrico; Petruzzella, Vittoria (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. ISSN 1476-5438. PMC 2987336. PMID 20068593.
Lee, Joshua J. A.; Maruyama, Rika; Duddy, William; Sakurai, Hidetoshi; Yokota, Toshifumi (2018-12-07). "Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy". Molecular Therapy. Nucleic Acids. 13: 596–604. doi:10.1016/j.omtn.2018.10.004. ISSN 2162-2531. PMC 6234522. PMID 30439648.
Bengtsson, Niclas E.; Seto, Jane T.; Hall, John K.; Chamberlain, Jeffrey S.; Odom, Guy L. (2016-04-15). "Progress and prospects of gene therapy clinical trials for the muscular dystrophies". Human Molecular Genetics. 25 (R1): R9 – R17. doi:10.1093/hmg/ddv420. ISSN 0964-6906. PMC 4802376. PMID 26450518.