Results 11 to 20 of about 9,962,231 (339)

Baseline fat fraction is a strong predictor of disease progression in Becker muscular dystrophy [PDF]

NMR in Biomedicine, 2022
In Becker muscular dystrophy (BMD), muscle weakness progresses relatively slowly, with a highly variable rate among patients. This complicates clinical trials, as clinically relevant changes are difficult to capture within the typical duration of a trial. Therefore, predictors for disease progression are needed.
Thom T. J. Veeger, Nienke M. van de Velde, Kevin R. Keene, Erik H. Niks, Melissa T. Hooijmans, Andrew G. Webb, Jurriaan H. de Groot, Hermien E. Kan   +7 more
openaire   +4 more sources

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry [PDF]

Journal of Personalized Medicine, 2020
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD). However, this reading frame rule does not always hold true. Therefore, an understanding of the relationships between genotype and
Kenji Rowel Q. Lim, Quynh Nguyen, Toshifumi Yokota   +2 more
openaire   +3 more sources

Intramuscular blood flow in Duchenne and Becker Muscular Dystrophy: Quantitative power Doppler sonography relates to disease severity

Clinical Neurophysiology, 2020
Absent or truncated dystrophin in Duchenne (DMD) and Becker (BMD) muscular dystrophies results in impaired vasodilatory pathways and exercise induced muscle ischemia. Here, we used power Doppler sonography to quantify changes in intramuscular blood flow immediately following exercise in boys with D/BMD.We quantified changes in intramuscular blood flow ...
Alexander R, Dietz, Anne, Connolly, Amir, Dori, Craig M, Zaidman   +3 more
openaire   +4 more sources

Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study

Frontiers in Neurology, 2023
ObjectiveNo treatments are approved for Becker muscular dystrophy (BMD). This study investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in adults with BMD.MethodsMales aged 18–65 years with a diagnosis of BMD ...
Giacomo P. Comi, Giacomo P. Comi, Erik H. Niks, Erik H. Niks, Krista Vandenborne, Claudia M. Cinnante, Hermien E. Kan, Hermien E. Kan, Rebecca J. Willcocks, Daniele Velardo, Francesca Magri, Michela Ripolone, Jules J. van Benthem, Nienke M. van de Velde, Nienke M. van de Velde, Simone Nava, Laura Ambrosoli, Sara Cazzaniga, Paolo U. Bettica   +18 more
doaj   +2 more sources

Giant bilateral Becker's nevus: Uncommon presentation of a common disease

Pigment International, 2016
Becker's nevus or melanosis is an acquired pigmented hairy nevus with both epidermal and dermal components, commonly seen in males. Herein, we report a case of giant bilateral Becker's nevus involving shoulder, scapular region, anterior chest and both the arms. Bilaterally, symmetrical presentation and large area of involvement make it a rare case.
Anupam Das, Karan Sancheti, Indrashis Podder, Nidhi Gupta, RameshChandra Gharami   +4 more
openaire   +2 more sources

Thomsen and Becker disease [PDF]

Definitions, 2020
openaire   +2 more sources

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Frontiers in Neurology, 2020
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano   +8 more
doaj   +1 more source

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

Orphanet Journal of Rare Diseases, 2022
There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation.
Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay, Erwin Argueta-Sosa   +4 more
doaj   +1 more source

Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement

Frontiers in Neurology, 2021
Introduction: Paraspinal muscles are important for gross motor functions. Impairment of these muscles can lead to poor postural control and ambulation difficulty.
Aisha M. Sheikh, Karen Rudolf, Josefine de Stricker Borch, Tahmina Khawajazada, Nanna Witting, John Vissing   +5 more
doaj   +1 more source

Apoptotic cell death in disease—Current understanding of the NCCD 2023

Cell Death and Differentiation, 2023
Apoptosis is a form of regulated cell death (RCD) that involves proteases of the caspase family. Pharmacological and genetic strategies that experimentally inhibit or delay apoptosis in mammalian systems have elucidated the key contribution of this ...
I. Vitale, F. Pietrocola, Emma Guilbaud, Stuart A. Aaronson, J. Abrams, D. Adam, M. Agostini, P. Agostinis, E. Alnemri, L. Altucci, I. Amelio, D. Andrews, R. Aqeilan, E. Arama, E. Baehrecke, Siddharth Balachandran, D. Bano, N. Barlev, J. Bartek, N. Bazan, C. Becker, F. Bernassola, M. Bertrand, M. Bianchi, M. Blagosklonny, J. Blander, G. Blandino, K. Blomgren, C. Borner, C. Bortner, P. Bove, P. Boya, C. Brenner, P. Brož, T. Brunner, R. Damgaard, G. Calin, M. Campanella, E. Candi, M. Carbone, D. Carmona‐Gutierrez, F. Cecconi, F. K. Chan, Guoqiang Chen, Quan Chen, Youhai H. Chen, E. Cheng, J. Chipuk, J. Cidlowski, A. Ciechanover, G. Ciliberto, M. Conrad, J. Cubillos-Ruiz, P. Czabotar, V. D’Angiolella, M. Daugaard, T. Dawson, V. Dawson, R. De Maria, B. de Strooper, K. Debatin, R. Deberardinis, A. Degterev, G. Del Sal, M. Deshmukh, F. Di Virgilio, M. Diederich, Scott J. Dixon, B. Dynlacht, W. El-Deiry, J. Elrod, K. Engeland, G. Fimia, C. Galassi, C. Ganini, A. García-Sáez, Abhishek D Garg, C. Garrido, E. Gavathiotis, M. Gerlic, Sourav Ghosh, D. Green, L. Greene, H. Gronemeyer, G. Häcker, G. Hajnóczky, J. Hardwick, Y. Haupt, Sudan He, D. Heery, M. Hengartner, C. Hetz, David A Hildeman, H. Ichijo, Satoshi Inoue, M. Jäättelä, Ana Janic, B. Joseph, Philipp J Jost, T. Kanneganti, M. Karin, H. Kashkar, T. Kaufmann, G. Kelly, O. Kepp, A. Kimchi, R. Kitsis, D. Klionsky, R. Kluck, D. Krysko, D. Kulms, Sharad Kumar, S. Lavandero, I. Lavrik, J. Lemasters, Gianmaria Liccardi, A. Linkermann, S. Lipton, R. Lockshin, C. López-Otín, T. Luedde, M. MacFarlane, F. Madeo, W. Malorni, G. Manic, R. Mantovani, S. Marchi, J. Marine, S. Martin, J. Martinou, P. Mastroberardino, J. Medema, P. Mehlen, P. Meier, G. Melino, S. Melino, Edward A. Miao, U. Moll, C. Muñoz-Pinedo, D. Murphy, M. Niklison-Chirou, F. Novelli, G. Núñez, A. Oberst, D. Ofengeim, J. Opferman, M. Oren, M. Pagano, T. Panaretakis, M. Pasparakis, J. Penninger, F. Pentimalli, David M. Pereira, S. Pervaiz, M. Peter, P. Pinton, Giovanni Porta, J. Prehn, H. Puthalakath, G. Rabinovich, K. Rajalingam, K. Ravichandran, M. Rehm, J. Ricci, R. Rizzuto, N. Robinson, C. Rodrigues, B. Rotblat, C. Rothlin, D. Rubinsztein, T. Rudel, A. Rufini, K. Ryan, K. Sarosiek, A. Sawa, E. Sayan, K. Schroder, L. Scorrano, F. Sesti, F. Shao, Yufang Shi, G. Sica, J. Silke, H. Simon, A. Sistigu, A. Stephanou, B. Stockwell, Flavie Strapazzon, A. Strasser, Liming Sun, E. Sun, Qiang Sun, G. Szabadkai, S. Tait, D. Tang, Nektarios Tavernarakis, C. Troy, B. Turk, N. Urbano, P. Vandenabeele, T. Vanden Berghe, M. V. Vander Heiden, J. Vanderluit, A. Verkhratsky, A. Villunger, S. von Karstedt, A. Voss, K. Vousden, D. Vučić, Daniela Vuri, E. Wagner, H. Walczak, D. Wallach, Ruoning Wang, Ying Wang, Achim Weber, Will Wood, T. Yamazaki, Huang-Tian Yang, Z. Zakeri, J. Zawacka-Pankau, Lin Zhang, Haibing Zhang, B. Zhivotovsky, Wenzhao Zhou, M. Piacentini, G. Kroemer, L. Galluzzi   +227 more
semanticscholar   +1 more source