Results 111 to 120 of about 169,015 (342)

Fatigue in muscular dystrophies

Neuromuscular Disorders, 2012
Fatigue is a frequent complaint in muscular dystrophies but it is yet not well defined or studied. We have examined the issue of muscle fatigue in a series of molecularly defined muscular dystrophies. A greater fatigability is seen in muscular dystrophy patients and can be an acute or chronic status.
Elisabetta Tasca, Corrado Angelini
openaire   +4 more sources

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]

, 2016
Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun, Becker, Catherina G., Boyd, Penelope, Come, Julian, Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Karyka, Evangelina, Martinat, Cecile, Parson, Simon H., Powis, Rachael A., Szunyogova, Eva, Thomson, Derek, Wishart, Thomas M., Zheng, Yinan   +15 more
core   +3 more sources

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, EarlyView.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source

State-of-the-art Advances in Duchenne Muscular Dystrophy

European Medical Journal, 2017
Duchenne muscular dystrophy (DMD) is a severe and fatal muscle condition affecting young children. Without interventions, affected boys lose the ability to walk independently by the age of 10 and develop progressive cardiac and respiratory failure.
Henriette Van Ruiten, Katherine Bushby, Michela Guglieri   +2 more
doaj  

Genetics and the muscular dystrophies [PDF]

Developmental Medicine & Child Neurology, 2000
Muscular dystrophy classification and diagnosis has been transformed over the 13 or so years since the cloning of the dystrophin gene (involved in Duchenne and Becker muscular dystrophy). A child or adult presenting with a muscular dystrophy can now expect a precise diagnosis.
openaire   +4 more sources

Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]

, 2016
Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic [PDF]

, 2018
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity
Aartsma-Rus, A., Bogdanik, L, Davies, K, De Luca, A, Demonbruen, Ar, Duan, D, Elsey, D, Fukada, Si, Girgenrath, M, Gonzalez, Jp, Gordish-Dressman, H, Grounds, Md, Heydemann, A, Kreibich, A, Lutz, C, Nagaraju, K, Nichols, A, Partridge, T, Passini, M, Pazze, Ld, Sanarica, F, Schnell, Fj, Spencer, M, Spurney, C, van Putten, M, Wells, Dj, Willmann, R, Yokota, T, Young, Cs, Zhong, Z   +29 more
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source