Results 101 to 110 of about 1,979 (203)

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes [PDF]

, 2020
Altres ajuts: This project has been funded by projects from the Fundación Isabel Gemio to II, EG and JDM and by Fundación Ramón Areces (CIVP18A3903) to NdL.Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low ...
de Luna Salva, Noemí, Diaz-Manera, Jordi, Fernández Simón, Esther, Gallardo, Eduard, Illa, Isabel, Lleixà, Cinta, Suarez-Calvet, Xavier, Universitat Autònoma de Barcelona   +7 more
core   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Assessment of disease progression in dysferlinopathy: A 1-year cohort study [PDF]

, 2019
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical ...
Alfano, L., Ashida, A., Bello, L., Berry, K.M., Bettinson, K., Bharucha-Goebel, D.X., Blamire, A.M., Bravver, E., Bushby, K., Canal, A., Carlier, P.G., Cnaan, A., Day, J.W., Decostre, V., Dewolf, B., Diaz-Manera, Jordi., Duong, T., Eagle, M., Feng, J., Fernandez-Torron, Roberto, Florence, J.M., Gee, R., Grieben, U., Harms, M., Hilsden, Heather, Hogrel, J.Y., Holsten, S., Hutchence, M., Jacobs, Marni, James, M.K., Jones, K.J., Krause, S., Lochmüller, H., Lofra, R.M., Lowes, L.P., Maron, E., Mayhew, A.G., Mendell, J.R., Mendez, J.B., Mittal, P., Montiel-Morillo, E., Moore, U., Mori-Yoshimura, M., Ollivier, G., Paradas, C., Pedrosa-Hernández, I., Pegoraro, E., Pestronk, A., Praxedes, N.S.A., Prügel, J., Rocha, C.T., Rose, K., Rufibach, L.E., Sakamoto, C., Salort-Campana, E., Sanjak, M., Schreiber-Katz, O., Semplicini, C., Shierbecker, J., Siener, C., Sparks, S., Spuler, S., Stojkovic, T., Straub, V., Takeda, S., Tateishi, T., Thiele, S., Universitat Autònoma de Barcelona, Vandevelde, B., Walter, M.C., Yajima, H.   +70 more
core   +3 more sources

Quantitative MRI can detect subclinical disease progression in muscular dystrophy [PDF]

, 2018
Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant muscular dystrophy with late onset and slow progression. The aim of this study was to compare different methods of quantitative MRI in the follow-up of OPMD to semiquantitative ...
Bieri, Oliver, Fasler, Susanne, Fischer, Dirk, Fischmann, Arne, Gloor, Monika, Hafner, Patricia, Studler, Ueli   +6 more
core  

Two cases with dysferlinopathy

Türk Nöroloji Dergisi, 2011
Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlinopathy whose diagnosis were confirmed by clinical and ...
Gaye Eryaşar, Yaprak Seçil, Yeşim Beckmann, Ayşen İnceoğlu Kendir, A. Gülden Diniz, Mustafa Başoğlu   +5 more
openaire   +2 more sources

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +1 more source

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

Indian Journal of Pathology and Microbiology, 2011
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein.
N Gayathri, R Alefia, A Nalini, T C Yasha, M Anita, Vani Santosh, S K Shankar   +6 more
doaj   +1 more source

The Clinical Outcome Study for dysferlinopathy: An international multicenter study [PDF]

, 2016
Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this ...
Bettinson, Karen, Bharucha-Goebel, Diana X., Bladen, Catherine L., Blamire, Andrew M., Bravver, Elena, Bushby, Kate, Carlier, Pierre G., Cnaan, Avital, Day, John W., Díaz-Manera, Jordi, Eagle, Michelle, Grieben, Ulrike, Harms, Matthew Benjamin, Harris, Elizabeth, Jones, Kristi J., Lochmüller, Hanns, Mayhew, Anna, Mendell, Jerry R., Moore, Ursula, Mori-Yoshimura, Madoka, Paradas, Carmen, Pegoraro, Elena, Pestronk, Alan, Rocha, Carolina Tesi, Rufibach, Laura, Salort-Campana, Emmanuelle, Schreiber-Katz, Olivia, Semplicini, Claudio, Smith, Fiona E., Spuler, Simone, Stojkovic, Tanya, Straub, Volker, Takeda, Shin’ich, The Jain COS Consortium, Walter, M. C.   +34 more
core   +3 more sources

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

Stem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source