Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Emmanuelle Lacene"'
Autor:
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)
Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course
Externí odkaz:
https://doaj.org/article/aa0b0640d52441babc07367bace6ddce
Autor:
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Publikováno v:
eLife, Vol 5 (2016)
Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 20
Externí odkaz:
https://doaj.org/article/c2eb5d8eb5b14293a741ed6e1db3525a
Autor:
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Publikováno v:
EBioMedicine, Vol 87, Iss , Pp 104400- (2023)
Externí odkaz:
https://doaj.org/article/6782e268e33b41838113b3d73feda37d
Autor:
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Publikováno v:
EBioMedicine, Vol 86, Iss , Pp 104367- (2022)
Summary: Background: Normative values for different morphometric parameters of muscle fibres during paediatric development, i.e. from 0 to 18 years, are currently unavailable. They would be of major importance to accurately evaluate pathological chan
Externí odkaz:
https://doaj.org/article/c40daf88736542c2be1493893b156c48
Autor:
Anne-Katrin Guettsches, Nancy Meyer, René P. Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
Publikováno v:
Biomedicines, Vol 10, Iss 10, p 2443 (2022)
Dominant VCP–mutations cause a variety of neurological manifestations including inclusion body myopathy with early–onset Paget disease and frontotemporal dementia 1 (IBMPFD). VCP encodes a ubiquitously expressed multifunctional protein that is a
Externí odkaz:
https://doaj.org/article/01e33abb37a14f4589274c424ffffc0e
Autor:
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetical
Externí odkaz:
https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb
Autor:
Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, Céline Tard, Maud Michaud, Rocio Nur Villar Quiles, Savine Vicart, Marion Masingue, Robert‐Yves Carlier, Norma Beatriz Romero, Emmanuelle Lacene, France Leturcq, Bruno Eymard, Pascal Laforêt, Tanya Stojkovic
Publikováno v:
European Journal of Neurology.
Autor:
Alzira Alves de Siqueira Carvalho, Alan Patricio Silva, Emmanuelle Lacene, Vinicius Gomes da Silva, Roseli Corazzini
Background There are few reports suggesting that gene expression and activation of various matrix metalloproteinases (MMPs) are deregulated. MMP-2 and MMP-9 represent the two MMPs, which degrade type IV collagen, the component of basement membrane. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d2d00091df910465c8a216e3ae104de
https://doi.org/10.21203/rs.2.20954/v1
https://doi.org/10.21203/rs.2.20954/v1
Autor:
Daniel J. Owens, Julien Messéant, Sophie Moog, Mark Viggars, Arnaud Ferry, Kamel Mamchaoui, Emmanuelle Lacène, Norma Roméro, Astrid Brull, Gisèle Bonne, Gillian Butler-Browne, Catherine Coirault
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 1, p 306 (2020)
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal
Externí odkaz:
https://doaj.org/article/5d4ab6ff50ac482fb7d2fe94084af0e6