Results 31 to 40 of about 92,711 (302)

Effect of Spinal Muscular Atrophy Awareness Sessions on Premarital Clients' Willingness to Perform Comprehensive SMA Genetic Testing [PDF]

Egyptian Journal of Health Care
Background: Premarital counselling in healthcare has a positive reflection on health and wellbeing of future families and inurn the whole community because it makes premarital clients feel energized, empowered with sufficient knowledge.
Nany Mohamed Erfan, Ayiat Allah Wagdy Farag, Hend Mohamed Elsayed Afefy, Eman Ebrahim Ahmed, Warda Abd-elmoaty Azab Yousef   +4 more
doaj   +1 more source

PROGRESSIVE MUSCULAR ATROPHY (?) [PDF]

The Journal of Nervous and Mental Disease, 1899
n ...
openaire   +2 more sources

BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

İstanbul Tıp Fakültesi Dergisi, 2022
Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu, Esin Karakılıç Özturan, Orhan Coşkun, Ayşe Pınar Öztürk, Edibe Pembegül Yıldız, Firdevs Baş, Nur Aydınlı, Meliha Mine Çalışkan   +7 more
doaj   +1 more source

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol.

PLoS ONE, 2022
BackgroundThe therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik, Paola Díaz-Abós, Victoria Sánchez-Menéndez, Carmen Álvarez, María Terzaghi, Jorge Maurino, María Brañas-Pampillón, Ignacio Málaga   +7 more
doaj   +2 more sources

Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

Journal of Rehabilitation Medicine - Clinical Communications, 2022
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh, Cris Zampieri, Paul Stout, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Joseph A. Shrader   +7 more
doaj   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
core   +1 more source

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

, 2014
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

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
core   +1 more source