Results 41 to 50 of about 843 (162)

Physical exercise and oxidative stress in muscular dystrophies: is there a good balance? Exercise and oxidative stress in MDs [PDF]

, 2017
The effect of oxidative stress on muscle damage inducted by physical exercise is widely debated. It is generally agreed that endurance and intense exercise can increase oxidative stress and generate changes in antioxidant power inducing muscle damage ...
Chico, Lucia, Cosci O Di Coscio, M, Ricci, Giulia, Siciliano, Gabriele, Simoncini, Costanza   +4 more
core   +1 more source

Myotonic dystrophy type 1 (DM1) and speech problems [PDF]

, 2017
Myotonic Dystrophy type 1(DM1), also called Steinert syndrome, is a multisystemic disorder transmitted in an autosomal dominant manner, characterized by myotonia. Muscles involved in voluntary movement are highly affected by myotonia especially distal
Baptista, Helena, Cardoso, Inês Lopes
core   +2 more sources

An online conserved SSR discovery through cross-species comparison [PDF]

, 2009
Simple sequence repeats (SSRs) play important roles in gene regulation and genome evolution. Although there exist several online resources for SSR mining, most of them only extract general SSR patterns without providing functional information.
Chen, Chien-Ming, Cheng, Ronshan, Hsiao, Meng-Chang, Hu, Chin-Hua, Pai, Tun-Wen, Tzou, Wen-Shyong   +5 more
core   +3 more sources

C9 ORF 72 expansion in a family with bipolar disorder [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98405/1/bdi12063 ...
Albin, Roger L., Grant, Adrienne E., He, Fang, Jones, Julie M., Kamali, Masoud, Langenecker, Scott A., Lenk, Guy M., Lieberman, Andrew P., McInnis, Melvin G., Meisler, Miriam H., Todd, Peter K.   +10 more
core   +1 more source

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

Molecular analysis of the eTG trinucleotide repeat in South African myotonic dystrophy families implications for diagnosis and counselling [PDF]

, 2017
No ...
Goldman, Aridrea, Jenkins, Trefor, Ramsay, Michele   +2 more
core   +1 more source

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations [PDF]

, 2012
Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Chávez García, Ana Laura, Cruz Guzmán, Oriana del Rocío, Rodríguez-Cruz, Maricela   +2 more
core   +3 more sources

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement [PDF]

, 2020
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the regulatory region, introns, or inside the coding sequence of a gene ...
Bertini, Enrico Silvio, La Rosa, Piergiorgio   +1 more
core   +1 more source

Human myotonic dystrophy protein kinase effect in S. cerevisiae [PDF]

, 2005
n/
Beffy, Pascale, Casella, Marta, Ciucci, Francesca, Del Carratore, Renata, Puntoni, Mariarita, Simi, Silvana, Simili, Marcella   +6 more
core   +1 more source

Bcl-x Pre-mRNA splicing regulates brain injury after neonatal hypoxia-ischemia [PDF]

, 2012
The bcl-x gene appears to play a critical role in regulating apoptosis in the developing and mature central nervous system (CNS) and following CNS injury. Two isoforms of Bcl-x are produced as a result of alternative pre-mRNA splicing: Bcl-x(L) (the long
Ford, Andria L, Gonzales, Ernesto, Holtzman, David M, Lee, Jin-Moo, Lee, Kuang-Yung, West, Tim, Xiao, Qingli, Xu, Jan, Yan, Ping   +8 more
core   +2 more sources