Results 61 to 70 of about 134,576 (312)

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

The impact of frailty syndrome on skeletal muscle histology: preventive effects of exercise

FEBS Open Bio, EarlyView.
Frailty syndrome exacerbates skeletal muscle degeneration via increased ECM deposition and myofiber loss. This study, using a murine model, demonstrates that endurance exercise attenuates these histopathological alterations, preserving muscle integrity. Findings support exercise as a viable strategy to counteract frailty‐induced musculoskeletal decline
Fujue Ji, Hae Sung Lee, Haesung Lee, Jong‐Hee Kim   +3 more
wiley   +1 more source

G9a promotes muscular atrophy in chronic aging and acute denervation

Animal Diseases
Muscular atrophy accompanied by neuromuscular junction (NMJ) denervation is often observed after long-term chronic diseases and aging and is associated with substantial morbidity and mortality.
Ying Jin, Wei Kang, Xiaoge Ji, Yihao Zhou, Ling Zheng   +4 more
doaj   +1 more source

Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]

Archives of the Balkan Medical Union, 2018
Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK, Mariana I. KRYVCHANSKA, Irina V. LASTIVKA, Tatiana V. KHMARA, Valentyna A. GONCHARENKO   +4 more
doaj  

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

The efficacy and safety of nusinersen within the expanded access program in Russia

Нервно-мышечные болезни, 2020
Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva, L. M. Kuzenkova, E. S. Ilyina, Yu. A. Kursakova, L. M. Kolpakchi, E. Yu. Sapego, A. A. Golenko, S. G. Popovich, D. V. Parshin, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, D. V. Vlodavets   +12 more
doaj   +1 more source

MRI Quantitative Evaluation of Muscle Fatty Infiltration

Magnetochemistry, 2023
Magnetic resonance imaging (MRI) is the gold-standard technique for evaluating muscle fatty infiltration and muscle atrophy due to its high contrast resolution. It can differentiate muscular from adipose tissue accurately.
Vito Chianca, Bottino Vincenzo, Renato Cuocolo, Marcello Zappia, Salvatore Guarino, Francesco Di Pietto, Filippo Del Grande   +6 more
doaj   +1 more source

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source