Zobrazeno 1 - 10
of 56
pro vyhledávání: '"E P, Hoffman"'
Autor:
Alexander E. J. Hoffman, Rafikul Ali Saha, Sander Borgmans, Pascal Puech, Tom Braeckevelt, Maarten B. J. Roeffaers, Julian A. Steele, Johan Hofkens, Veronique Van Speybroeck
Publikováno v:
APL Materials, Vol 11, Iss 4, Pp 041124-041124-12 (2023)
Metal-halide perovskites (MHPs) exhibit excellent properties for application in optoelectronic devices. The bottleneck for their incorporation is the lack of long-term stability such as degradation due to external conditions (heat, light, oxygen, moi
Externí odkaz:
https://doaj.org/article/23f6678f6cbc4fec943db646ca4c494f
Publikováno v:
Biomolecules, Vol 6, Iss 1, p 10 (2016)
Glutamate is a neurotransmitter used at both the peripheral and central terminals of nociceptive primary sensory neurons, yet little is known concerning regulation of glutamate metabolism during peripheral inflammation. Glutaminase (GLS) is an enzyme
Externí odkaz:
https://doaj.org/article/aaba58ce75c54b3eb4f8835498fcaeee
Autor:
M. M. Botha, E. C. Hoffman
Publikováno v:
South African Journal of Information Management, Vol 10, Iss 1 (2008)
The primary objective of the research was to investigate the mailing practices and filing methods in a computer support or administrative environment involving the resulting abuse of paper. In applied research, an exploratory investigation focused on
Externí odkaz:
https://doaj.org/article/1c4cbcf4299849b2903fa5a8e161d2fe
Autor:
Gianni Sorarù, Luca Bello, Corrado Angelini, Gerolamo Lanfranchi, A. Kesari, Joseph M. Devaney, Luisa Piva, Beniamina Pacchioni, Stefano Cagnin, Heather Gordish-Dressman, Craig M. McDonald, Mario Ermani, Elena Pegoraro, Bruno F. Gavassini, I. Lee, M. Bonifati, E. P. Hoffman
Publikováno v:
Neurology. 76:219-226
Objective: Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient–patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e79fa30790cd0757fc120560e19265bb
https://doi.org/10.1212/wnl.0b013e318207afeb
https://doi.org/10.1212/wnl.0b013e318207afeb
rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy
Publikováno v:
Gene Therapy. 6:74-82
The limb girdle muscular dystrophies (LGMD) are a genetically and phenotypically heterogeneous group of degenerative neuromuscular diseases. A subset of the genetically recessive forms of LGMD are caused by mutations in the four muscle sarcoglycan ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ed2fb678dc3011105927ab55cc9852
https://doi.org/10.1038/sj.gt.3300830
https://doi.org/10.1038/sj.gt.3300830
Autor:
F. Martinello, R. L. Munk, Pedro Mancias, G. Hoganson, Carlo P. Trevisan, Mena Scavina, Thomas O. Crawford, A. Stella, Virginia H. Carver, Tulio E. Bertorini, E P Hoffman, C. E. Thompson, Carlos A. Garcia, Marina Fanin, R. A. Zimmerman, Elena Pegoraro, C. Angelini, S. Servidei, D. Gagnon, Harold G. Marks, C. C. Bönnemann, Gyula Acsadi, Anne M. Connolly
Publikováno v:
Neurology. 51:101-110
Objective: To determine the number of primary laminin α2 gene mutations and to conduct genotype/phenotype correlation in a cohort of lamininα2-deficient congenital muscular dystrophy patients. Background: Congenital muscular dystrophies (CMD) are a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62ff4ca051e33de44e789bc8b15ba9da
https://doi.org/10.1212/wnl.51.1.101
https://doi.org/10.1212/wnl.51.1.101
Autor:
H. G. Marks, L. Weiss, E P Hoffman, Corrado Angelini, H. Toriello, J. W. Taber, M. Cadaldini, J. Donnelly, S. M. Bernes, H. Stern, H. E. Neville, E. Barbosa, R. N. Schimke, S. Appleton, W. A. Marks, Elena Pegoraro, H. B. Wessel, C. Garcia, J. Carroll
Publikováno v:
Scopus-Elsevier
We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4260c79c0ec874ea6246ba821e9d50a1
https://doi.org/10.1212/wnl.45.4.677
https://doi.org/10.1212/wnl.45.4.677
Publikováno v:
Journal of thrombosis and haemostasis : JTH. 5(1)
We have reported on a patient with thrombocytopenia, impaired platelet aggregation, secretion, phosphorylation of pleckstrin and myosin light chain (MLC), and GPIIb-IIIa activation, associated with a heterozygous mutation in transcription factor CBFA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb982158c67944f529ac6e5b715e5c7
https://pubmed.ncbi.nlm.nih.gov/17059412
https://pubmed.ncbi.nlm.nih.gov/17059412
Autor:
E P Hoffman, Domenico Marco Bonifati, Mario Ermani, S F Witchel, Elena Pegoraro, Corrado Angelini
Background: Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable. Aims: To investigate whether glucocorticoid receptor ( GRL ) gene polymorphisms may be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c5ab74a0f9951e61526759174803df
http://hdl.handle.net/11577/2436129
http://hdl.handle.net/11577/2436129
Autor:
K R, Wagner, S, Hamed, D W, Hadley, A L, Gropman, A H, Burstein, D M, Escolar, E P, Hoffman, K H, Fischbeck
Publikováno v:
Annals of neurology. 49(6)
Aminoglycosides have previously been shown to suppress nonsense mutations, allowing translation of full-length proteins in vitro and in animal models. In the mdx mouse, where muscular dystrophy is due to a nonsense mutation in the dystrophin gene, ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d267e92d1ed755edec54a9b6f20d456
https://pubmed.ncbi.nlm.nih.gov/11409418
https://pubmed.ncbi.nlm.nih.gov/11409418