Results 251 to 260 of about 5,268,956 (336)

Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F. Brandsema, Claudio Bruno, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, for the Givinostat Study 51 Investigators, the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators, the ImagingDMD Investigators, Enrico Bertini, Giacomo Pietro Comi, Eugenio Maria Mercuri, Giuseppe Vita, Sonia Messina, Claudio Bruno, Riccardo Masson, Valeria Sansone, Nathalie Goemans, Liesbeth De Waele, Laurent Servais, Teresa Gidaro, Odile Boespflug‐Tanguy, Yann Péréon, Jessika Johannsen, Astrid Blaschek, Ulrike Schara‐Schmidt, Erik Niks, Imelda de Groot, Saskia Houwen‐van Opstal, Andres Nascimento, Juan Jesus Vilchez, Nuria Muelas, Francina Munell, Marcos Madruga Garrido, Mercedes Lopez Lobato, Michaela Guglieri, Tracey Willis, Stefan Spinty, Daniel Hawcutt, Mariacristina Scoto, Jean K. Mah, Laura McAdam, Kathryn Selby, Katherine Mathews, Craig McDonald, Craig Zaidman, Barry Byrne, John Brandsema, Gyula Acsadi, Chamindra Laverty, Amy Harper, Erika Finanger, Han Phan, Yoram Nevo, Vedrana Milic Rasic, Dragana Vucinic   +74 more
wiley   +1 more source

Pharmacogenetics of metamizole-induced agranulocytosis: a systematic review and drug regulation implications. [PDF]

Front Pharmacol
Fidelis GFS, Dagli-Hernandez C, Martinelli RP, Marzuki JE, Baharuddin B, Yue QY, Edwards B, Pincinato EC, Moriel P.   +8 more
europepmc   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Physical Performance and Sports Genetics: A Systematic Review of Candidate Gene Polymorphisms Involved in Team Sports. [PDF]

Genes (Basel)
Mijaica R, Tohănean DI, Alexe DI, Balint L.   +3 more
europepmc   +1 more source

Cognitive Impairment in Multiple Sclerosis: The Role of Clinical and Sociodemographic Factors ‐ A Systematic Review and Meta‐Analysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment (CI) affects the quality of life in multiple sclerosis (MS). Identifying influencing factors is key to improving CI monitoring. This systematic review and meta‐analysis examines clinical and sociodemographic variables impacting the cognitive screening Symbol Digit Modalities Test (SDMT) performance across MS ...
Katalin Lugosi, Marie A. Engh, Tamás Kói, Zsolt Molnár, Gábor Csukly, Klaudia Horváth, Emma Hargitai, Péter Hegyi, Zsolt Mezei   +8 more
wiley   +1 more source

Bioinformatics and Omics-based Perspectives on Breast Cancer: Advancing Target Gene Identification for the Development of Anticancer Agents. [PDF]

Asian Pac J Cancer Prev
Irmasari I, Rahmat AK, Yoga IMBK, Maharani D, Widayanti WR, Widyardhita MH, Saputra BW, Haidar I, Amalia A, Ningsih SR, Putri DDP, Hermawan A.   +11 more
europepmc   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia. [PDF]

BMC Med Genomics
Safarian Z, Mehrabi S, Rakhshani Nejad A, Alavimanesh S, Kavousinia P, Shushizadeh MH, Hassani SF, Onagh L, Sarli A, Rezaie N.   +9 more
europepmc   +1 more source

Exploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition,
Zidan Gao, Zhuoma Danzhen, Yao Li, Junyu Zhu, Lan Chu, Zhang Yang   +5 more
wiley   +1 more source

Genetic variants in the CD59 gene: An exploratory study of large genome databases. [PDF]

Transfusion
Srivastava K, Recupero TC, Flegel WA.
europepmc   +1 more source