Results 51 to 60 of about 1,438 (185)
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Frontiers in Neurology, 2020 Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera +30 moredoaj +1 more sourceMyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]
IUBMB LifeABSTRACT
This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M. +7 moreeuropepmc +2 more sourcesTHE CHALLENGING DIAGNOSIS OF DYSFERLINOPATHY – A CASE REPORT
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype.Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian +4 moreopenaire +2 more sourcesAssessing dysferlinopathy patients over three years with a new motor scale [PDF]
, 2021 OBJECTIVE: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design.James, Meredoith K, Blamire, A.M., Pegoraro E., Jordi Díaz‐Manera, James M. K., Bello L., Sakamoto C., DeWolf, Brittney, Sanchez-Aguilera-Praxedes, Nieves, Práxedes, N.S.A., Mori-Yoshimura, M., Ursula Moore, Duong, Tina, Jean‐Yves Hogrel, Linda P. Lowes, Siener, C., Maron, Elke, Bharucha-Goebel, Diana X., DeWolf B., Scott Holsten, Blamire, Andrew, Vandevelde, Bruno, Canal A., Jacobs, Marni, Irene Pedrosa‐Hernández, Lindsay N. Alfano, Catherine Siener, Madoka Mori‐Yoshimura, Maron E., Rufibach, Laura E., Emmanuelle Salort‐Campana, Paradas, Carmen, Guglieri, Michella, Lowes L. P., Pedrosa-Hernández, I., Aurélie Canal, Mayhew A. G., Spuler, Simone, Siener, Catherine, Duong, T., Anna G. Mayhew, Guglieri, Michela, Jacobs, M., Jacobs M. B., Rose K., Stojkovic T., Marni B. Jacobs, Diana X. Bharucha‐Goebel, Stojkovic, Tanya, Thiele S., Maggie C. Walter, Walter M. C., Tina Duong, Laura E. Rufibach, Blamire A. M., James, M.K., Canal, Aurélie, Muni Lofra, R., Díaz-Manera, J., Hogrel J. -Y., Muni-Lofra, Robert, Pegoraro, E., Michelle Eagle, Pestronk A., Alan Pestronk, Lowes, L.P., Thiele, S., Hogrel, J.Y., Tanya Stojkovic, Guglieri M., Carlier, Pierre G., Holsten, S., Pedrosa-Hernandez I., Mendell, Jerry R., Mendell, J.R., Eagle, Michelle, Day, John W, Canal, A., Alfano, L.N., DeWolf, B., Elena Pegoraro, Jones, K.J., Carlier, P.G., Straub, Volker, Salort-Campana E., Bharucha-Goebel, D.X., Brittney DeWolf, Díaz-Manera, Jordi, Rose, K., Mendell, J. R., James, Meredith K., Pegoraro, Elena, Straub V., Bello, Luca, John W. Day, Alfano L. N., Paradas C., Mori-Yoshimura, Madoka, Jones, Kristi J, Walter, M.C., Muni Lofra, Robert, Blamire, Andrew M., Day, John W., Siener C., Day, J.W., Andrew M. Blamire, Jacobs, Marni B, Eagle, M., Rufibach, L.E., Mayhew, A.G., Vandevelde B., Bravver, Elena, Sakamoto, C., Bello, L., Day J. W., Bruno Vandevelde, Meredith K. James, Paradas, C., Lofra, R.M., Nieves Sanchez‐Aguilera Práxedes, Jones K. J., Holsten, Scott, Blamire, Andrew M, Feng, J., Vandevelde, B., Feng, Jia, Duong T., Carlier P. G., Rufibach, Laura E, Chikako Sakamoto, Carmen Paradas, Rufibach L. E., Moore, Ursula, Jia Feng, Mayhew, Anna G, Kristy Rose, Elke Maron, Spuler S., Luca Bello, Stojkovic, T., Diaz-Manera J., Volker Straub, Thiele, Simone, Carlier, Pierre G, Michela Guglieri, Alfano, Lindsay, Pedrosa-Hernández, Irene, Simone Thiele, Spuler, S., Robert Muni Lofra, Salort-Campana, E., Mayhew, Anna G., Moore U., Walter, Maggie C., Lowes, Linda Pax, Jones, Kristi J., Pierre G. Carlier, Muni Lofra R., Pestronk, Alan, Maron, E., Mendell, Jerry R, Salort-Campana, Emmanuelle, Rose, Kristy, Hogrel, Jean-Yves, Jerry R. Mendell, Feng J., Lowes, Linda P, Kristi J. Jones, Simone Spuler, Eagle M., Bravver, E., Guglieri, M., Walter, Maggie C, Bharucha-Goebel D. X., Bravver E., Bharucha-Goebel, Diana X, Pestronk, A., Sakamoto, Chikako, Sanchez-Aguilera Praxedes N., Mendell J. R., Moore, U., Alfano, Lindsay N, Sanchez-Aguilera Práxedes, N., Sánchez-Aguilera Praxedes, Nieves, James, Meredith K, Straub, V., Elena Bravver, Holsten S., Mori-Yoshimura M., Bharucha-Goebel, Diana +189 morecore +2 more sourcesCardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study [PDF]
, 2022 \ua9 2022 The Authors. Muscle & Nerve published by Wiley Periodicals LLC. INTRODUCTION/AIMS: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy.Lowes LP, Mayhew AG, Carlier PG, Paradas C, Mori-Yoshimura M, Jacobs M, James MK, Blamire AM, Bourke J, Pestronk A, Mendell JR, Gordish-Dressman H, Diaz-Manera J, Straub V, Walter MC, Bushby K, Guglieri M, Day JW, Jones KJ, Moore U, Stojkovic T, Rufibach LE, Bharucha-Goebel DX, Bravver E, Fernandez-Torron R, Feng J, Spuler S, Harris E, Pegoraro E, Salort-Campana E +29 morecore +3 more sourcesWhole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
Case Reports in Genetics, 2016 Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi +7 moredoaj +1 more sourceClinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
Frontiers in Neuroscience, 2022 BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega +10 moredoaj +1 more source
