Results 61 to 70 of about 2,985,698 (230)

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

European Journal of Human Genetics, 2022
Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by molecular tools.
Haloom Rafehi, Cherie C Green, K. Bozaoglu, Greta Gillies, M. Delatycki, P. Lockhart, I. Scheffer, M. Bahlo   +7 more
semanticscholar   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, EarlyView.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 more
wiley   +1 more source

Are Neuromuscular Disorders That Cause Fatigue a Contraindication to Sports Participation? A Case Report and Narrative Review of the Literature

Applied Sciences
Engaging in sports, particularly at a competitive level, requires sustained muscle contractions before the onset of physical fatigue. Fatigue is highly prevalent in neuromuscular diseases, especially those affecting neuromuscular transmission (e.g ...
Marianna Papadopoulou, Maria Ioanna Stefanou, Dimitrios Stasinopoulos, Vasiliki Zouvelou, George Papadimas, Christos Moschovos, Pinelopi Vlotinou, Elisabeth Chroni, Georgios Tsivgoulis   +8 more
doaj   +1 more source

Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]

, 2016
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris, Kalra, Spandan, Montanaro, Federica   +2 more
core   +4 more sources

Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence

Advanced Science, EarlyView.
Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu, Ke Zhang, Zelei Miao, Gaoyi Yang, Yujing Huang, Ju‐Sheng Zheng   +5 more
wiley   +1 more source

Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair

Case Reports in Anesthesiology, 2017
Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients.
Ramon Go, David Wang, Danielle Ludwin
doaj   +1 more source

Brain connectomics' modification to clarify motor and nonmotor features of myotonic dystrophy type 1 [PDF]

, 2016
The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life.
Bozzali, Marco, Caltagirone, Carlo, Cercignani, Mara, Giacanelli, Manlio, Mancini, Matteo, Masciullo, Marcella, Mastropasqua, Chiara, Meola, Giovanni, Petrucci, Antonio, Serra, Laura, Silvestri, Gabriella, Spanò, Barbara, Torso, Mario   +12 more
core   +6 more sources

FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models

Communications Medicine
We developed the FORCETM platform to overcome limitations of oligonucleotide delivery to muscle and enable their applicability to neuromuscular disorders.
T. Weeden, Tyler Picariello, Brendan Quinn, Sean Spring, Pei-Yi Shen, Qifeng Qiu, Benjamin F Vieira, L. Schlaefke, R. Russo, Ya-An Chang, Jin Cui, Monica Yao, Aiyun Wen, Nelson Hsia, Tama Evron, Katy Ovington, Pei-Ni Tsai, Nicholas Yoder, Bo Lan, Reshmii Venkatesan, John Hall, Cody A. Desjardins, Mo Qatanani, Scott Hilderbrand, J. Najim, Zhenzhi Tang, Matthew K Tanner, Romesh R. Subramanian, Charles A. Thornton, O. Ibraghimov-Beskrovnaya, S. Zanotti   +30 more
semanticscholar   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Continuous outcome estimation in N‐of‐1 trials for accelerated decision‐making

Epilepsia, EarlyView.
Abstract Objective N‐of‐1 trials aim to determine the therapeutic effect for a single individual. This individualized approach necessitates collecting multiple data points over time through repeated alternating periods of active treatment and a comparator or control condition.
Victoria Defelippe, František Bartoš, Eric‐Jan Wagenmakers, Kees P. J. Braun, Floor E. Jansen, Willem M. Otte   +5 more
wiley   +1 more source