Zobrazeno 1 - 10
of 167
pro vyhledávání: '"X-Linked Traits"'
Autor:
Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli
Publikováno v:
PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7
http://hdl.handle.net/1887/3249481
http://hdl.handle.net/1887/3249481
Autor:
Veronica J. Vieland, Sang-Cheol Seok
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0257164 (2021)
PLoS ONE
PLoS ONE
SummaryIn earlier work, we have developed and evaluated an alternative approach to the analysis of GWAS data, based on a statistic called the PPLD. More recently, motivated by a GWAS for genetic modifiers of the X-linked Mendelian disorder Duchenne M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1387bfa3c9c32a86a810fce827a96287
https://doi.org/10.1101/2021.05.03.442456
https://doi.org/10.1101/2021.05.03.442456
Autor:
Cathryn S. Mellersh, James A. C. Oliver, Hattie Wright, Hannah Joyce, Louise M. Burmeister, Lorraine Fleming
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 5, p e0251071 (2021)
PLoS ONE, Vol 16, Iss 5, p e0251071 (2021)
Purpose Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided and pedigree analysis wa
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 4, p e0248952 (2021)
PLoS ONE, Vol 16, Iss 4, p e0248952 (2021)
Background Hemophilic arthropathy, a condition manifested as joint destruction due to spontaneous joint bleeding, is one complication of hemophiliac patients. Early detection and intervention may improve the outcome, in which ultrasonography can be a
Autor:
Roberta Francesca Capogrosso, Ornella Cappellari, Francesca Sanarica, Adriano Fonzino, Annamaria De Luca, Jean-Francois Rolland, Antonietta Mele, Francesco Rana, Paola Mantuano
Publikováno v:
PLoS ONE, Vol 16, Iss 1, p e0245397 (2021)
PLoS ONE
PLoS ONE
The mdx mouse model of Duchenne muscular dystrophy is characterized by functional and structural alterations of the diaphragm since early stages of pathology, closely resembling patients’ condition. In recent years, ultrasonography has been propose
Autor:
Yetrib Hathout, Utkarsh J. Dang, Eric P. Hoffman, Molly Barkhouse, Mamta Giri, Heather Gordish-Dressman, Kitipong Uaesoontrachoon, Michael Ziemba, Kanneboyina Nagaraju
Publikováno v:
PLoS ONE, Vol 16, Iss 2, p e0246507 (2021)
PLoS ONE
PLoS ONE
Duchenne muscular dystrophy is initiated by dystrophin deficiency, but downstream pathophysiological pathways such as membrane instability, NFĸB activation, mitochondrial dysfunction, and induction of TGFβ fibrosis pathways are thought to drive the
Autor:
Ricardo Mesquita Camelo, Daniel Gonçalves Chaves, Luciana Werneck Zuccherato, Suely Meireles Rezende, BrazIT Study Team
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256265 (2021)
PLoS ONE
PLoS ONE
The development of inhibitors is the main complication of haemophilia A (HA) treatment. Immune tolerance induction (ITI) is the treatment of choice for inhibitor eradication. We describe the methodology of the Brazilian Immune Tolerance Induction (Br
Autor:
Rebecca Barok, Alexie A. Larson, Cory W. Baumann, Pangdra Vang, Brendan J. Dougherty, Dawn A. Lowe
Publikováno v:
PLoS ONE, Vol 16, Iss 3, p e0249472 (2021)
PLoS ONE
PLoS ONE
Female carriers of Duchenne muscular dystrophy (DMD) presenting with DMD symptomology similar to males with DMD, such as skeletal muscle weakness and cardiomyopathy, are termed manifesting carriers. There is phenotypic variability among manifesting c
Publikováno v:
PLoS Biology, Vol 19, Iss 5, p e3001228 (2021)
PLoS Biology
PLoS Biology
The biogenic amine octopamine (OA) and its precursor tyramine (TA) are involved in controlling a plethora of different physiological and behavioral processes. The tyramine-β-hydroxylase (tβh) gene encodes the enzyme catalyzing the last synthesis st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da4b6c2fd047627f82302ec5f0927e38
Autor:
Laura Biagi, Simona Fiori, Roberta Battini, Sara Lenzi, Emilio Cipriano, Guia Astrea, Eugenio Mercuri, Paolo Bosco, Giovanni Cioni, Michela Tosetti, Antonella Pini, Paola Cristofani
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 5, p e0250420 (2021)
PLoS ONE, Vol 16, Iss 5, p e0250420 (2021)
Introduction Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a4408608d2a5fd189e24ec5e7fe7cc
http://hdl.handle.net/11568/1116250
http://hdl.handle.net/11568/1116250