Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Vanessa Schartner"'
Autor:
Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-10 (2019)
Abstract Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clinical, histological, and genet
Externí odkaz:
https://doaj.org/article/d42c29aa23c94636a8ccd59abddd09be
Publikováno v:
Journal of Neuromuscular Diseases. 6:289-305
Muscle contraction requires specialized membrane structures with precise geometry and relies on the concerted interplay of electrical stimulation and Ca 2+ release, known as excitation-contraction coupling (ECC). The membrane structure hosting ECC is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37842da4e7935d95ce7d684db88c9b
https://doi.org/10.3233/jnd-180314
https://doi.org/10.3233/jnd-180314
Autor:
Emma Matthews, Edoardo Malfatti, Osorio Abath Neto, Sandra Donkervoort, Aleksandra Nadaj Pakleza, Bruno Eymard, Hernan Gonorazky, F Zorzato, Lucy Feng, Mai Thao Bui, Pinki Munot, Johann Böhm, Nicolas Dondaine, Guy Brochier, Anne Boland, Valérie Biancalana, Clémence Labasse, Ana Lia Taratuto, Susan Treves, Leigh Ramos-Platt, Emmanuelle Lacène, Xavière Lornage, Charlotte J. Sumner, Caroline Sewry, Vanessa Schartner, Julie D. Thompson, Jocelyn Laporte, Tyler Mark Pierson, Michel Fardeau, Irina Zaharieva, Susana Quijano-Roy, Rahul Phadke, Norma B. Romero, Diana Bharucha-Goebel, Maud Beuvin, Francesco Muntoni, Jean-François Deleuze, Carsten G. Bönnemann, Raphaël Schneider, Ivana Dabaj
Publikováno v:
Acta Neuropathologica
Acta Neuropathologica, 2017, 133 (4), pp.517-533. ⟨10.1007/s00401-016-1656-8⟩
Acta Neuropathologica, 2017, 133 (4), pp.517-533. ⟨10.1007/s00401-016-1656-8⟩
Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb44c0d32eefdb7f1497ff5368bf4ede
https://pubmed.ncbi.nlm.nih.gov/28012042
https://pubmed.ncbi.nlm.nih.gov/28012042
Autor:
Tanya Stojkovic, Haluk Topaloglu, Robert J. Bryson-Richardson, Thierry Maisonobe, Ying Hu, Gina L. O'Grady, Roger Bryan Sutton, Myriam Sanjuan-Vazquez, D. Ardicli, Avnika A. Ruparelia, Sandra T. Cooper, Nigel F. Clarke, Monkol Lek, Beryl B. Cummings, Vanessa Schartner, Himanshu Joshi, Georg Ramm, Osorio Abath Neto, Taru Tukiainen, Sandra Donkervoort, Anthony Peduto, Juliette Nectoux, Norma B. Romero, Jean-François Deleuze, Viola Oorschot Ing, Beril Talim, Biljana Ilkovski, Stephen W. Reddel, Sylvie Friant, Carsten G. Bönnemann, Susan Brammah, Daniel G. MacArthur, Heather A. Best, Jahannaz Dastgir, Kristen J. Nowak, Tamar E. Sztal, Kathryn N. North, Anne Boland, Nigel G. Laing, Leigh B. Waddell, Jocelyn Laporte, Caitlin Williams
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb284e53b3c5dc26599669a1bea27e
https://pubmed.ncbi.nlm.nih.gov/27745833
https://pubmed.ncbi.nlm.nih.gov/27745833