Current/Relevant Publications


Current/Relevant Publications

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Current/Relevant Publications

The following papers were published on dysferlin and dysferlinopathy from 2015 through early 2021. Papers in bold orange are part of Jain Foundation’s research program (funded wholly or in part by the Jain Foundation and/or including Jain Foundation personnel as co-authors).

“Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent,” Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M, Front Neurol. 2020 Nov 5;11:559327. doi: 10.3389/fneur.2020.559327. eCollection 2020.

“Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness,” Töpf A, Johnson K, Bates A, Phillips L, Chao KR, et al.; MYO-SEQ consortium, Straub V, Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11.

“Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective,” Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, et al., Gravel S, Lévesque S, Neurol Genet. 2020 Mar 13;6(2):e408. doi: 10.1212/NXG.0000000000000408. eCollection 2020 Apr.

“The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain,” Izumi R, Takahashi T, Suzuki N, Niihori T, Ono H, et al., Hum Mutat. 2020 Sep;41(9):1540-1554. doi: 10.1002/humu.24036. Epub 2020 Jul 5.

“Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect,” Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S, Orphanet J Rare Dis. 2020 Jan 14;15(1):14. doi: 10.1186/s13023-020-1296-x.

“The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease,” Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, et al., Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2.

“A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film.” Cox D, Henderson M, Straub V, Barresi R., Neuromuscul Disord. 2019 Nov;29(11):874-880.

“Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.” Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, et al. Clin Genet. 2019 Oct;96(4):341-353.

“Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.” Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, et al. Genet Med. 2019 Nov;21(11):2512-2520.

“Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.” Özyilmaz B, Kirbiyik Ö, Özdemir TR, Kaya Özer Ö, Kutbay YB, et al., Ann Hum Genet. 2019 Sep;83(5):331-347

“Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.” Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, et al., Clin Genet. 2019 Aug;96(2):126-133.

“Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.” Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, et al., Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587.

“The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients“ Wang L, Zhang VW, Li S, Li H, Sun Y, Li J, Zhu Y, He R, Lin J, Zhang C. Orphanet J Rare Dis. 2018 Aug 14;13(1):133.

“Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.” Dastur RS, Gaitonde PS, Kachwala M, Nallamilli BRR, Ankala A, Khadilkar SV, Atchayaram N, Gayathri N, Meena AK, Rufibach L, Shira S, Hegde M., Ann Indian Acad Neurol. 2017 Jul-Sep;20(3):302-308.

“Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.” Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX., Chin Med J (Engl). 2016 Oct 5;129(19):2287-93.

“Deep phenotyping of an international series of patients with late-onset dysferlinopathy,”  Fernández-Eulate G, Querin G, Moore U, Behin A, Masingue M, et al. Eur J Neurol. 2021 Jun;28(6):2092-2102.

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale,”  Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, et al. Ann Neurol. 2021 May;89(5):967-978.

“Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease,” Moore U, Gordish H, Diaz-Manera J, James M, et al., Neuromuscul Disord. 2021 Apr;31(4):265-280.

“Null variants in DYSF result in earlier symptom onset,” Park HJ, Hong YB, Hong JM, Yun U, Kim SW, Shin HY, Kim SM, Choi YC, Clin Genet. 2021 Mar;99(3):396-406. doi: 10.1111/cge.13887.

“Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy,”  Moore U, Jacobs M, Fernandez-Torron R, LLauger Rossello J, Smith FE, et al., Front Neurol. 2020 Dec 16;11:613446. doi: 10.3389/fneur.2020.613446. eCollection 2020.

“Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases,” Reyngoudt H, Marty B, Boisserie JM, Le Louër J, Koumako C, Baudin PY, Wong B, Stojkovic T, Béhin A, Gidaro T, Allenbach Y, Benveniste O, Servais L, Carlier PG, Eur Radiol. 2020 Nov 21. doi: 10.1007/s00330-020-07487-0.

“Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5-S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related,” Kim DH, Jang DH, Jang JH, Diagnostics (Basel). 2020 Jul 29;10(8):530. doi: 10.3390/diagnostics10080530.

“Disease duration and disability in dysferlinopathy can be described by muscle imaging using heatmaps and random forests.” Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA., Muscle Nerve. 2019 Apr;59(4):436-444.

“Assessment of disease progression in dysferlinopathy: A 1-year cohort study,” Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, et al., Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858.

“Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.” Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D’angelo G. Muscle Nerve. 2018 Oct;58(4):550-558.

“Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.” Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, et al. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081.

“Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.” Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, et al., J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226.

“Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.” Umakhanova ZR, Bardakov SN, Mavlikeev MO, Chernova ON, Magomedova RM, Akhmedova PG, Yakovlev IA, Dalgatov GD, Fedotov VP, Isaev AA, Deev RV., Front Neurol. 2017 Mar 8;8:77.

“The Clinical Outcome Study for dysferlinopathy: An international multicenter study.” Harris E, Bladen CL, Mayhew A, James M, Bettinson K, et al., Neurol Genet. 2016 Aug 4;2(4):e89.

“Calcium binds and rigidifies the dysferlin C2A domain in a tightly coupled manner.” Wang Y, Tadayon R, Santamaria L, Mercier P, Forristal CJ, Shaw GS, Biochem J. 2021 Jan 15;478(1):197-215. doi: 10.1042/BCJ20200773

“Direct Evidence That Mutations within Dysferlin’s C2A Domain Inhibit Lipid Clustering,” Golbek TW, Otto SC, Roeters SJ, Weidner T, Johnson CP, Baio JE, J Phys Chem B. 2021 Jan 14;125(1):148-157. doi: 10.1021/acs.jpcb.0c07143. Epub 2020 Dec 23

“Structural Basis for the Distinct Membrane Binding Activity of the Homologous C2A Domains of Myoferlin and Dysferlin.” Harsini FM, Bui AA, Rice AM, Chebrolu S, Fuson KL, Turtoi A, Bradberry M, Chapman ER, Sutton RB. J Mol Biol. 2019 May 17;431(11):2112-2126.

“Distinct amino acid motifs carrying multiple positive charges regulate membrane targeting of dysferlin and MG53.” Zhou L, Middel V, Reischl M, Strähle U, Nienhaus GU. PLoS One. 2018 Aug 9;13(8):e0202052.

“FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins.” Harsini FM, Chebrolu S, Fuson KL, White MA, Rice AM, Sutton RB. Sci Rep. 2018 Jul 19;8(1):10949.

“Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.” Woolger N, Bournazos A, Sophocleous RA, Evesson FJ, Lek A, Driemer B, Sutton RB, Cooper ST., J Biol Chem. 2017 Nov 10;292(45):18577-18591.

“Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice.” Agarwal AK, Tunison K, Mitsche MA, McDonald JG, Garg A., J Lipid Res. 2019 Dec;60(12):2057-2073.

“Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice,” Haynes VR, Keenan SN, Bayliss J, Lloyd EM, Meikle PJ, Grounds MD, Watt MJ, J Lipid Res. 2019 Aug;60(8):1350-1364.

“Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B.” Sellers SL, Milad N, White Z, Pascoe C, Chan R, Payne GW, Seow C, Rossi F, Seidman MA, Bernatchez P., J Lipid Res. 2018 Feb;59(2):261-272.

“Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.” Hogarth MW, Defour A, Lazarski C, Gallardo E, Diaz Manera J, Partridge TA, Nagaraju K, Jaiswal JK. Nat Commun. 2019 Jun 3;10(1):2430.

“Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle.” Defour A, Medikayala S, Van der Meulen JH, Hogarth MW, Holdreith N, Malatras A, Duddy W, Boehler J, Nagaraju K, Jaiswal JK., Hum Mol Genet. 2017 Jun 1;26(11):1979-1991.

“Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle,” McDade JR, Naylor MT, Michele DE, FEBS J. 2021 Jan;288(1):160-174. doi: 10.1111/febs.15556. Epub 2020 Sep 25

“Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling,” Evans S, Weinheimer CJ, Kovacs A, Williams JW, Randolph GJ, Jiang W, Barger PM, Mann DL, Sci Rep. 2020 Aug 24;10(1):14129. doi: 10.1038/s41598-020-71079-7.

“Annexin A2 Mediates Dysferlin Accumulation and Muscle Cell Membrane Repair,” Bittel DC, Chandra G, Tirunagri LMS, Deora AB, Medikayala S, Scheffer L, Defour A, Jaiswal JK, Cells. 2020 Aug 19;9(9):1919. doi: 10.3390/cells9091919.

“Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha,” Kubozono K, Mizuta K, Fujimoto S, Tran TT, Kamata N, Tobiume K, Biochem Biophys Res Commun. 2020 Aug 27;529(3):720-725. doi: 10.1016/j.bbrc.2020.06.079. Epub 2020 Jul 18

“Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system,” Hofhuis J, Bersch K, Wagner S, Molina C, Fakuade FE, et al., Europace. 2020 Jul 1;22(7):1119-1131. doi: 10.1093/europace/euaa093.

“Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains,” Báez-Matus X, Figueroa-Cares C, Gónzalez-Jamett AM, Almarza-Salazar H, Arriagada C, Maldifassi MC, Guerra MJ, Mouly V, Bigot A, Caviedes P, Cárdenas AM, Int J Mol Sci. 2019 Dec 19;21(1). pii: E37.

“Dysferlin-deficiency has greater impact on function of slow muscles, compared with fast, in aged BLAJ mice.” Lloyd EM, Xu H, Murphy RM, Grounds MD, Pinniger GJ.  PLoS One. 2019 Apr 10;14(4):e0214908.

“Thrombospondin-1 and disease progression in dysferlinopathy.” Urao N, Mirza RE, Corbiere TF, Hollander Z, Borchers CH, Koh TJ., Hum Mol Genet. 2017 Dec 15;26(24):4951-4960.

“Coupling of excitation to Ca2+ release is modulated by dysferlin.” Lukyanenko V, Muriel JM, Bloch RJ., J Physiol. 2017 Aug 1;595(15):5191-5207.

“Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype.” Baek JH, Many GM, Evesson FJ, Kelley VR. Am J Pathol. 2017 Jun;187(6):1245-1257.

“Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.” Hofhuis J, Bersch K, Büssenschütt R, Drzymalski M, Liebetanz D, et al., J Cell Sci. 2017 Mar 1;130(5):841-852.

“Dysferlin mutations and mitochondrial dysfunction.” Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM., Neuromuscul Disord. 2016 Nov;26(11):782-788.

“Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.” Middel V, Zhou L, Takamiya M, Beil T, Shahid M, Roostalu U, Grabher C, Rastegar S, Reischl M, Nienhaus GU, Strähle U., Nat Commun. 2016 Sep 19;7:12875.

“MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.” Aguennouz M, Lo Giudice C, Licata N, Rodolico C, Musumeci O, et al., Cell Biochem Funct. 2016 Aug;34(6):414-22.

“The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.” Cea LA, Bevilacqua JA, Arriagada C, Cárdenas AM, Bigot A, Mouly V, Sáez JC, Caviedes P., BMC Cell Biol. 2016 May 24;17 Suppl 1:15.

“Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner.”, Codding SJ, Marty N, Abdullah N, Johnson CP., J Biol Chem. 2016 Jul 8;291(28):14575-84.

“Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.”, Demonbreun AR, Allen MV, Warner JL, Barefield DY, Krishnan S, Swanson KE, Earley JU, McNally EM., Am J Pathol. 2016 Jun;186(6):1610-22.

“Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes,” Fernández-Simón E, Lleixà C, Suarez-Calvet X, Diaz-Manera J, Illa I, Gallardo E, de Luna N, BMC Musculoskelet Disord. 2020 Nov 27;21(1):784. doi: 10.1186/s12891-020-03756-7.

“Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models,” Vallecillo-Zúniga ML, Rathgeber MF, Poulson PD, Hayes S, Luddington JS, Gill HN, Teynor M, Kartchner BC, Valdoz J, Stowell C, Markham AR, Arthur C, Stowell S, Van Ry PM, PLoS One. 2020 Sep 3;15(9):e0238441. doi: 10.1371/journal.pone.0238441. eCollection 2020.

“Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice,” Cea LA, Fernández G, Arias-Bravo G, Castillo-Ruiz M, Escamilla R, Brañes MC, Sáez JC, Int J Mol Sci. 2020 Aug 21;21(17):6025. doi: 10.3390/ijms21176025.

“Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation,” Fernández G, Arias-Bravo G, Bevilacqua JA, Castillo-Ruiz M, Caviedes P, Sáez JC, Cea LA, Biochim Biophys Acta Mol Basis Dis. 2020 Aug 1;1866(8):165800. doi: 10.1016/j.bbadis.2020.165800.

“N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice,” García-Campos P, Báez-Matus X, Jara-Gutiérrez C, Paz-Araos M, Astorga C, et al., Int J Mol Sci. 2020 Jun 16;21(12):4293. doi: 10.3390/ijms21124293.

“AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy,” Ono H, Suzuki N, Kanno SI, Kawahara G, Izumi R, et al., Mol Ther. 2020 Apr 8;28(4):1133-1153. doi: 10.1016/j.ymthe.2020.02.006. Epub 2020 Feb 12.

“Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells.” Kokubu Y, Nagino T, Sasa K, Oikawa T, Miyake K, et al. Stem Cells Transl Med. 2019 Oct;8(10):1017-1029.

“Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B.” White Z, Milad N, Tehrani AY, Chen WW, Donen G, Sellers SL, Bernatchez P., PLoS One. 2019 Aug 12;14(8):e0220903.

“Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.” Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, et al. Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654.

“Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy.” Lee JJA, Maruyama R, Duddy W, Sakurai H, Yokota T., Mol Ther Nucleic Acids. 2018 Dec 7;13:596-604.

“Exon Skipping in a Dysf-Missense Mutant Mouse Model.” Malcher J, Heidt L, Goyenvalle A, Escobar H, Marg A, et al. Mol Ther Nucleic Acids. 2018 Dec 7;13:198-207.

“Dysferlin Exon 32 Skipping in Patient Cells.” Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Methods Mol Biol. 2018;1828:489-496.

“Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.” Sreetama SC, Chandra G, Van der Meulen JH, Ahmad MM, Suzuki P, Bhuvanendran S, Nagaraju K, Hoffman EP, Jaiswal JK. Mol Ther. 2018 Sep 5;26(9):2231-2242.

“Diltiazem improves contractile properties of skeletal muscle in dysferlin-deficient BLAJ mice, but does not reduce contraction-induced muscle damage.” Begam M, Collier AF, Mueller AL, Roche R, Galen SS, Roche JA. Physiol Rep. 2018 Jun;6(11):e13727.

“A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice.” Barzilai-Tutsch H, Dewulf M, Lamaze C, Butler Browne G, Pines M, Halevy O., Hum Mol Genet. 2018 Aug 15;27(16):2817-2829.

“Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice.” Collier AF, Gumerson J, Lehtimäki K, Puoliväli J, Jones JW, Kane MA, Manne S, O’Neill A, Windish HP, Ahtoniemi T, Williams BA, Albrecht DE, Bloch RJ. J Pharmacol Exp Ther. 2018 Mar;364(3):409-419.

“DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.” Ma J, Pichavant C, du Bois H, Bhakta M, Calos MP., Mol Ther Methods Clin Dev. 2017 Oct 24;7:123-131.

“Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy.” Quattrocelli M, Salamone IM, Page PG, Warner JL, Demonbreun AR, McNally EM. Am J Pathol. 2017 Nov;187(11):2520-2535.

“Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.” Gushchina LV, Bhattacharya S, McElhanon KE, Choi JH, Manring H, Beck EX, Alloush J, Weisleder N., Mol Ther. 2017 Oct 4;25(10):2360-2371.

“Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy.” Potter RA, Griffin DA, Sondergaard PC, Johnson RW, Pozsgai ER, Heller KN, Peterson EL, Lehtimäki KK, Windish HP, Mittal PJ, Albrecht DE, Mendell JR, Rodino-Klapac LR. Hum Gene Ther. 2018 Jul;29(7):749-762.

“The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy,” Begam M, Roche R, Hass JJ, Basel CA, Blackmer JM, et al., Muscle Nerve. 2020 Sep;62(3):393-403. doi: 10.1002/mus.26906. Epub 2020 Jul 8.

“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. Neuromuscul Disord. 2018 Aug;28(8):702-710.

“Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice.” Nagy N, Nonneman RJ, Llanga T, Dial CF, Riddick NV, et al., Physiol Rep. 2017.