An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Autor: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf

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A comparison of the ultrasonographic median nerve cross-sectional area at the wrist and the wrist-to-forearm ratio in carpal tunnel syndrome

Autor: Abrishamchi, F., Zaki, B., Basiri, K., Majid Ghasemi, Mohaghegh, M.

Publikováno v: Journal of Research in Medical Sciences, Vol 19, Iss 12, Pp 1113-1117 (2014)
Scopus-Elsevier
Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences

Background: Electrophysiologic (EDX) study is the most valuable method in grading the severity of carpal tunnel syndrome (CTS), but it is invasive and painful. We evaluated the efficacy of ultrasound for this purpose. Materials and Methods: Eighty-on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c39c5ed596d31dd77eff78a13e1369e3
http://www.jmsjournal.net/article.asp?issn=1735-1995

Enalapril protects endothelial cells against induced apoptosis in Alzheimer's disease

Autor: Meamar, R., Dehghani, L., Majid Ghasemi, Saadatnia, M., Basiri, K., Faradonbeh, N. A., Javanmard, S. H.

Publikováno v: Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences
Scopus-Elsevier
Europe PubMed Central

Background: Alzheimer's disease (AD) is a progressive neurodegenerative disease in which endothelial cell (EC) can be affected. In brain, functional changes in ECs contribute to reductions in resting blood flow. Furthermore, angiotensin-converting en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::124336a4f7434d3cb416d5f43b41a1f5
http://europepmc.org/articles/PMC3743309