Results 11 to 20 of about 1,440 (186)

Portrait of Dysferlinopathy: Diagnosis and Development of Therapy [PDF]

Journal of Clinical Medicine, 2023
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules.
Jacques P Tremblay, Camille Bouchard, Tremblay Jacques P   +2 more
exaly   +6 more sources

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy [PDF]

Biomedicines, 2023
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli   +8 more
doaj   +2 more sources

Asymptomatic and oligosymptomatic states of dysferlinopathy [PDF]

Journal of Neuromuscular Diseases
Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states.
Bardakov SN, Deev RV, Tsargush VA, Kaimonov VS, Musatova EV, Blagodatskikh KA, Tveleneva AA, Sofronova YV, Suslov VM, Carlier PG, Kurbatov SA, Yakovlev IA, Umakhanova ZR, Isaev AA.   +13 more
exaly   +4 more sources

Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy [PDF]

Case Reports in Medicine, 2017
Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified.
Svetlana F. Khaiboullina, Ekaterina V. Martynova, Sergey N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Albert A. Rizvanov   +7 more
doaj   +5 more sources

Dysferlinopathy: A Case Report and Literature Update [PDF]

İstanbul Medical Journal, 2016
Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene.
Orkide Kutlu, Can Ebru Bekircan Kurt, İbrahim Ünsal, Zeynep Arıbaş, Bilge Renkliyıldız, Hasan Eruzun, Ayşe Duran Karagülmez, Sevim Erdem Özdamar   +7 more
doaj   +2 more sources

Water T2 could predict functional decline in patients with dysferlinopathy [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2022
Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials.
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera   +26 more
doaj   +9 more sources

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach [PDF]

Frontiers in Neurology, 2022
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported.
Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub   +48 more
doaj   +3 more sources

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy [PDF]

Journal of Korean Medical Science, 2012
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal).
Park, Hyung Jun, Hong, Ji-Man, Suh, Gyoung Im, Shin, Ha Young, Kim, Seung Min, Sunwoo, Il Nam, Suh, Bum Chun, Choi, Young-Chul   +7 more
openaire   +4 more sources

Comparison of strength testing modalities in dysferlinopathy [PDF]

Muscle & Nerve, 2022
AbstractIntroduction/AimsDysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression or from an investigational product is associated with changing functional ability.
Natalie F. Reash, Meredith K. James, Lindsay N. Alfano, Anna G. Mayhew, Marni Jacobs, Megan A. Iammarino, Scott Holsten, Chikako Sakamoto, Takayuki Tateishi, Hiroyuki Yajima, Tina Duong, Brittney de Wolf, Richard Gee, Diana X. Bharucha‐Goebel, Elena Bravver, Madoka Mori‐Yoshimura, Kate Bushby, Laura E. Rufibach, Volker Straub, Linda P. Lowes   +19 more
core   +6 more sources

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families [PDF]

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +2 more sources