Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Irina T. Zaharieva"'
Autor:
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1011-1026 (2022)
Abstract Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response. We investigated mic
Externí odkaz:
https://doaj.org/article/25ab80b6bfc14c54bc1d6bd5ae1ab5ca
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Daniel Natera‐de Benito, Julie A. Jurgens, Alison Yeung, Irina T. Zaharieva, Adnan Manzur, Stephanie P. DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J. Barry, Wai‐Man Chan, James E. Elder, John Christodoulou, Eleanor Hay, Eleina M. England, Pinki Munot, David G. Hunter, Lucy Feng, Danielle Ledoux, Anne O'Donnell‐Luria, Rahul Phadke, Elizabeth C. Engle, Anna Sarkozy, Francesco Muntoni
Publikováno v:
Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases sigma and delta (PTP sigma/delta) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c20c4e99b5b3fede7ebd7ae05e16d1
https://europepmc.org/articles/PMC8960342/
https://europepmc.org/articles/PMC8960342/
Autor:
Gianina, Ravenscroft, Irina T, Zaharieva, Carlo A, Bortolotti, Matteo, Lambrughi, Marcello, Pignataro, Marco, Borsari, Caroline A, Sewry, Rahul, Phadke, Goknur, Haliloglu, Royston, Ong, Hayley, Goullée, Tamieka, Whyte, Uk K, Consortium, Adnan, Manzur, Beril, Talim, Ulkuhan, Kaya, Daniel P S, Osborn, Alistair R R, Forrest, Nigel G, Laing, Francesco, Muntoni
Publikováno v:
Human Molecular Genetics.
OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f1bd94d9090c98cd1087064a4664c4
https://doi.org/10.1093/hmg/ddy320
https://doi.org/10.1093/hmg/ddy320
Autor:
Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80263 (2013)
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, while in frame mutations result in Becker muscular dystrophy (BMD). Ullrich congenital muscular dystrophy (UCMD)
Externí odkaz:
https://doaj.org/article/cdb54c9b9c9a442188f457fbe2bcb0b6