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Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene |
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| J Y Shen, K Prasad, L L Goh, S Angkodjojo, C Y Khoo, T Umapathi |
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Dysferlinopathies: Clinical and genetic variability |
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| Alisa Ivanova, Svetlana Smirnikhina, Alexander Lavrov |
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| Clinical Genetics. 2022; |
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The C2 domains of dysferlin: roles in membrane localization, Ca
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signalling and sarcolemmal repair
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| Joaquin Muriel, Valeriy Lukyanenko, Tom Kwiatkowski, Sayak Bhattacharya, Daniel Garman, Noah Weisleder, Robert J. Bloch |
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| The Journal of Physiology. 2022; |
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Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation |
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| Yan Xie, Ying-hui Li, Kai Chen, Chun-yan Zhu, Jia-ying Bai, Feng Xiao, Song Tan, Li Zeng |
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| Frontiers in Neurology. 2022; 13 |
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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia |
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| Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega |
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| Frontiers in Neuroscience. 2022; 16 |
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Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle |
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| Valeriy Lukyanenko, Joaquin Muriel, Daniel Garman, Leonid Breydo, Robert J. Bloch |
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| Frontiers in Physiology. 2022; 13 |
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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B |
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| Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno |
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| International Journal of Molecular Sciences. 2022; 23(16): 8932 |
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Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants |
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| Hamidreza Mianesaz, Safoura Ghalamkari, Mansoor Salehi, Mahdiyeh Behnam, Majid Hosseinzadeh, Keivan Basiri, Majid Ghasemi, Maryam Sedghi, Behnaz Ansari |
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| Molecular Genetics & Genomic Medicine. 2022; |
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A novel dysferlin gene mutation in a Filipino male with Miyoshi myopathy |
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| Karen Joy Adiao, Mario B. Prado, Mina Astejada |
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| Clinical Neurology and Neurosurgery. 2021; 201: 106433 |
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Myositis mimics |
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| Sujata Ganguly, Rudrarpan Chatterjee, Abhishek Zanwar, Latika Gupta |
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| Indian Journal of Rheumatology. 2021; 16(4): 427 |
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Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging |
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| Sarah Ming Li Tan, Ching Ching Ong, Kong Bing Tan, Hui-Lin Chin, Prakash R Paliwal, Kay Wei Ping Ng, Weiqin Lin |
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| International Heart Journal. 2021; 62(1): 186 |
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Prospects for the Etiotropic Treatment of Dysferlinopathy |
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| Alisa V. Ivanova, Svetlana A. Smirnikhina, Alexander V. Lavrov |
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| Annals of the Russian academy of medical sciences. 2021; 76(3): 307 |
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Deep phenotyping of an international series of patients with late-onset dysferlinopathy |
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| Gorka Fernández-Eulate, Giorgia Querin, Ursula Moore, Anthony Behin, Marion Masingue, Guillaume Bassez, Sarah Leonard-Louis, Pascal Laforêt, Thierry Maisonobe, Philippe-Edouard Merle, Marco Spinazzi, Guilhem Solé, Thierry Kuntzer, Anne-Laure Bedat-Millet, Emmanuelle Salort-Campana, Shahram Attarian, Yann Péréon, Leonard Feasson, Julie Graveleau, Aleksandra Nadaj-Pakleza, France Leturcq, Svetlana Gorokhova, Martin Krahn, Bruno Eymard, Volker Straub, Teresinha Evangelista, Tanya Stojkovic |
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| European Journal of Neurology. 2021; 28(6): 2092 |
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Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent |
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| Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Madhuri Hegde |
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| Frontiers in Neurology. 2020; 11 |
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Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation |
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| Gabriela Fernández, Guisselle Arias-Bravo, Jorge A. Bevilacqua, Mario Castillo-Ruiz, Pablo Caviedes, Juan C. Sáez, Luis A. Cea |
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| Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2020; 1866(8): 165800 |
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Functions of Vertebrate Ferlins |
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| Anna V. Bulankina, Sven Thoms |
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Early pathological signs in young dysf mice are improved by halofuginone |
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| Hila Barzilai-Tutsch, Olga Genin, Mark Pines, Orna Halevy |
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| Neuromuscular Disorders. 2020; 30(6): 472 |
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The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy |
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| Morium Begam, Renuka Roche, Joshua J. Hass, Chantel A. Basel, Jacob M. Blackmer, Jasmine T. Konja, Amber L. Samojedny, Alyssa F. Collier, Sujay S. Galen, Joseph A. Roche |
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| Muscle & Nerve. 2020; 62(3): 393 |
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Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B |
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| Stephanie L. Sellers,Nadia Milad,Zoe White,Chris Pascoe,Rayleigh Chan,Geoffrey W. Payne,Chun Seow,Fabio Rossi,Michael A. Seidman,Pascal Bernatchez |
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| Journal of Lipid Research. 2018; 59(2): 261 |
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Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy |
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| Nirupa J. Patel,Kenneth W. Van Dyke,Luis R. Espinoza |
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Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies |
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| Ana M. Cárdenas,Arlek M. González-Jamett,Luis A. Cea,Jorge A. Bevilacqua,Pablo Caviedes |
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| Experimental Neurology. 2016; 283: 246 |
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Respiratory and cardiac function in japanese patients with dysferlinopathy |
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| Atsuko Nishikawa,Madoka Mori-Yoshimura,Kazuhiko Segawa,Yukiko K. Hayashi,Toshiaki Takahashi,Yuko Saito,Ikuya Nonaka,Martin Krahn,Nicolas Levy,Jun Shimizu,Jun Mitsui,En Kimura,Jun Goto,Naohiro Yonemoto,Masashi Aoki,Ichizo Nishino,Yasushi Oya,Miho Murata |
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| Muscle & Nerve. 2016; 53(3): 394 |
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Progress and challenges in diagnosis of dysferlinopathy |
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| Marina Fanin,Corrado Angelini |
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| Muscle & Nerve. 2016; 54(5): 821 |
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The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes |
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| Luis A. Cea,Jorge A. Bevilacqua,Christian Arriagada,Ana María Cárdenas,Anne Bigot,Vincent Mouly,Juan C. Sáez,Pablo Caviedes |
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| BMC Cell Biology. 2016; 17(S1) |
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Myofiber Damage Precedes Macrophage Infiltration after in Vivo Injury in Dysferlin-Deficient A/J Mouse Skeletal Muscle |
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| Joseph A. Roche,Mohan E. Tulapurkar,Amber L. Mueller,Nico van Rooijen,Jeffrey D. Hasday,Richard M. Lovering,Robert J. Bloch |
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| The American Journal of Pathology. 2015; 185(6): 1686 |
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AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models |
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| Patricia C. Sondergaard,Danielle A. Griffin,Eric R. Pozsgai,Ryan W. Johnson,William E. Grose,Kristin N. Heller,Kim M. Shontz,Chrystal L. Montgomery,Joseph Liu,Kelly Reed Clark,Zarife Sahenk,Jerry R. Mendell,Louise R. Rodino-Klapac |
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| Annals of Clinical and Translational Neurology. 2015; 2(3): 256 |
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Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies |
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| Arunkanth Ankala,Babi R Nallamilli,Laura E. Rufibach,Esther Hwang,Madhuri R. Hegde |
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Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models |
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| Amber L. Mueller,Patrick F. Desmond,Ru-ching Hsia,Joseph A. Roche |
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| Muscle & Nerve. 2014; 50(2): 286 |
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Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients |
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| Marc Bartoli,Jean-Pierre Desvignes,Jean-Pierre BSc,Levy Nicolas,Krahn Martin |
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| Muscle & Nerve. 2014; : n/a |
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Lipid Accumulation in Dysferlin-Deficient Muscles |
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| Miranda D. Grounds,Jessica R. Terrill,Hannah G. Radley-Crabb,Terry Robertson,John Papadimitriou,Simone Spuler,Tea Shavlakadze |
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| The American Journal of Pathology. 2014; 184(6): 1668 |
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New developments in exon skipping and splice modulation therapies for neuromuscular diseases |
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| Aleksander Touznik,Joshua JA Lee,Toshifumi Yokota |
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis |
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| Mats I. Nilsson,Marissa L. Laureano,Munim Saeed,Mark A. Tarnopolsky |
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| Muscle & Nerve. 2013; 47(5): 740 |
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis |
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| Nilsson, M.I. and Laureano, M.L. and Saeed, M. and Tarnopolsky, M.A. |
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Inhibition of muscle fibrosis and improvement of muscle histopathology in dysferlin knock-out mice treated with halofuginone |
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| Halevy, O. and Genin, O. and Barzilai-Tutsch, H. and Pima, Y. and Levi, O. and Moshe, I. and Pines, M. |
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| Joseph A. Roche,Lisa W. Ru,Andrea M. O’Neill,Wendy G. Resneck,Richard M. Lovering,Robert J. Bloch |
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