Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Barry, Byrne"'
Autor:
Priya Kishnani, Barry Byrne, Kristl Claeys, Paula Clemens, Jordi Díaz-Manera, Mazen Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Antonio Toscano, Noemi Hummel, Fred Holdbrook, Simon Shohet, Benedikt Schoser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100905- (2024)
Externí odkaz:
https://doaj.org/article/7e8f3ffae6b041ad994f1232138e95db
Autor:
Priya Kishnani, Benedikt Schoser, Drago Bratkovic, Paula Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar, Barry Byrne
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100031- (2023)
Externí odkaz:
https://doaj.org/article/41cbbd3dd64e477caa62c2aca904b5de
Publikováno v:
Physiology. 38
Pompe disease is a neuromuscular disorder resulting from mutations in the gene for acid a-glucosidase (GAA) – an enzyme necessary to degrade lysosomal glycogen. Early-onset disease occurs in the absence of functional GAA, which leads to cardiorespi
Autor:
Michele Singer, Ethan Benevides, Sabhya Rana, Robert Martinez, Brian Barral, Michael Sunshine, Barry Byrne, David Fuller
Publikováno v:
Physiology. 38
Contraction of the tongue muscles is needed for effective swallowing, speaking and breathing. Thus, inadequate tongue muscle activation can contribute to devastating conditions such as dysarthria, dysphagia, and obstructive sleep apnea. Existing trea
Publikováno v:
Physiology. 38
Pompe disease (PD) is an autosomal recessive metabolic disorder caused by mutations in the enzyme acid-α-glucosidase (GAA) gene. Loss of GAA function causes pathologic accumulation of cellular glycogen. Both early- and late-onset PD are characterize
Publikováno v:
Physiology. 38
Pompe disease is a monogenic neuromuscular disorder caused by a mutation in the gene encoding the lysosomal enzyme acid alpha-glucosidase. This leads to widespread glycogen accumulation, cardiorespiratory failure, and early mortality. There is clear
Autor:
Tahseen Mozaffar, Benedikt Schoser, Priya Kishnani, Drago Bratkovic, Paula R. Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Kumaraswamy Sivakumar, Ans Van Der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Sheela Sitaraman, Yasmine Wasfi, Barry Byrne
Publikováno v:
Thursday, April 27.
Autor:
Bridget Lins-Austin, Saajan Patel, Mario Mietzsch, Dewey Brooke, Antonette Bennett, Balasubramanian Venkatakrishnan, Kim Van Vliet, Adam N. Smith, Joanna R. Long, Robert McKenna, Mark Potter, Barry Byrne, Sanford L. Boye, Brian Bothner, Regine Heilbronn, Mavis Agbandje-McKenna
Publikováno v:
Viruses, Vol 12, Iss 6, p 668 (2020)
Adeno-associated viruses (AAVs) are small, non-pathogenic ssDNA viruses being used as therapeutic gene delivery vectors for the treatment of a variety of monogenic diseases. An obstacle to successful gene delivery is inefficient capsid trafficking th
Externí odkaz:
https://doaj.org/article/c53fc790c6d747268e96cc1198cbcd18
Publikováno v:
The FASEB Journal. 36
Publikováno v:
Sensors, Vol 9, Iss 6, Pp 4407-4445 (2009)
Antibody-based sensors permit the rapid and sensitive analysis of a range of pathogens and associated toxins. A critical assessment of the implementation of such formats is provided, with reference to their principles, problems and potential for ‘o
Externí odkaz:
https://doaj.org/article/fdfd75ca8d614be8aeb6a62bde8d2c52