Results 121 to 130 of about 39,875 (271)

Aggravation of Cardiovascular and Respiratory Decline in Advanced Duchenne Muscular Dystrophy Complicated by Dilated Cardiomyopathy – Case Study and Review of Literature

Journal of Education, Health and Sport
Introduction: Duchenne muscular dystrophy is a genetic X-linked recessive disorder. This condition is characterized by progressive loss of muscle tissue. Thus, it results in deterioration and inability to perform basic motor skills such as independent
Iwona Welian-Polus, Bartosz Mazur, Michał Bielak, Magdalena Mazur, Elżbieta Rypulak, Wiktoria Wilanowska, Anna Greguła, Karol Stachyrak, Dawid Mika, Kamila Turek   +9 more
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

ANTISENSE MEDIATED DYSTROPHIN READING FRAME RESTORATION

, 2010
Exon skipping using antisense oligonucleotides (AONs) has successfully been used to reframe the mRNA in various DMD (Duchenne muscular dystrophy) patients carrying deletions and in the mdx mouse model.
Spitali, Pietro
core  

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study. [PDF]

Eur J Neurol
In this retrospective single‐center study of 1018 routine Holter ECG recordings from 167 patients with Duchenne muscular dystrophy, nonsustained ventricular tachycardia and frequent premature ventricular complexes were common. Reduced left ventricular function was the strongest associated factor, supporting regular Holter monitoring for patients at ...
Sugiyama R, Takeshita E, Aihara Y, Shimizu-Motohashi Y, Izumi S, Oba M, Komaki H.   +6 more
europepmc   +2 more sources

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, Volume 13, Issue 31, 4 June 2026.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

Integration of School Children with Duchenne Muscular Dystrophy. [PDF]

, 2006
Title: Integration of school children with Duchenne muscular dystrophy Aim: To verify that the student with Duchenne muscular dystrophy is able to fully participate in activities on a regular elementary school and social environment that is willing to ...
Lesinová, Soňa
core  

Cognitive Function in Duchenne Muscular Dystrophy Patients

Neurologijos seminarai
Duchenne muscular dystrophy is a rare, progressive, X-linked recessive disorder, characterized by impaired synthesis of the protein dystrophin. Motor symptoms in boys typically emerge within the first year of life, followed by progressive cardiac ...
Viktorija Urbanovič, Jurgita Grikinienė   +1 more
doaj   +1 more source