Zobrazeno 1 - 10
of 1 064
pro vyhledávání: '"Arnold, Munnich"'
Autor:
Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020
Externí odkaz:
https://doaj.org/article/171f70d6cf7543cf8446ba86ba7ec84b
Publikováno v:
Fluids and Barriers of the CNS, Vol 20, Iss 1, Pp 1-22 (2023)
Abstract The CLDN5 gene encodes claudin-5 (CLDN-5) that is expressed in endothelial cells and forms tight junctions which limit the passive diffusions of ions and solutes. The blood–brain barrier (BBB), composed of brain microvascular endothelial c
Externí odkaz:
https://doaj.org/article/752f55b02e054e3aa257c77b895aeec0
Autor:
Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellula
Externí odkaz:
https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196
Autor:
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev
Publikováno v:
Life, Vol 13, Iss 2, p 445 (2023)
Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5′- and 3′-ends of tRNA sequences by the concerted a
Externí odkaz:
https://doaj.org/article/740db6f7d1904907a90d248e301688bf
Autor:
Catherine Billard, Camille Jung, Arnold Munnich, Sahawanatou Gassama, Monique Touzin, Anne Mirassou, Thiébaut-Noël Willig
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Learning disabilities (LDs) are a major public health issue, affecting cognitive functions and academic performance for 8% of children. If LDs are not detected early and addressed through appropriate interventions, they have a heavy impac
Externí odkaz:
https://doaj.org/article/527b7820bb5b4c1d92b0f94f1b29b224
Autor:
Catherine Billard, Eric Thiébaut, Sahawanatou Gassama, Monique Touzin, Jean-Christophe Thalabard, Anne Mirassou, Arnold Munnich
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Learning disabilities in children are a major public health concern worldwide, having a prevalence of 8%. They are associated with lost social, educational, and ultimately, professional opportunities for individuals. These disabilities ar
Externí odkaz:
https://doaj.org/article/3961839394bf404c87e514655afd88ea
Autor:
Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-10 (2019)
Abstract Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To imp
Externí odkaz:
https://doaj.org/article/82edb3badd9e428b9096501733b083a1
Autor:
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke, Fabienne Jabot-Hanin, Agnès Rötig, Sophie Monnot, Arnold Munnich, Nelly Frydman, Julie Steffann
Publikováno v:
Human Reproduction. 38:992-1002
STUDY QUESTION Does mitochondrial deficiency affect human embryonic preimplantation development? SUMMARY ANSWER The presence of a pathogenic mitochondrial variant triggers changes in the gene expression of preimplantation human embryos, compromising
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d5323f7973de574b5cbdc3756f0144a
https://doi.org/10.1093/humrep/dead052
https://doi.org/10.1093/humrep/dead052
Autor:
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann
Publikováno v:
Haematologica, Vol 106, Iss 4 (2020)
Externí odkaz:
https://doaj.org/article/e19fe0ea31c84d67a2a7afae43acaa9f
Autor:
Christelle Rémus, Aurélie Stanislas, Naïm Bouazza, Valérie Gauthereau, Michel Polak, Stéphane Blanche, Assa Niakaté, Eliane Gluckman, Jean-Marc Tréluyer, Arnold Munnich, Robert Girot, Marina Cavazzana
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Aim: Sickle cell disease (SCD) is the most frequent monogenic disease worldwide; ~5–7% of the world population carry a hemoglobin disorder trait. In the US, one in every 1,941 newborns has SCD, whereas one in every 3,000 newborns in France is affec
Externí odkaz:
https://doaj.org/article/7b3f19d6c31544f0aefbb0c332664c4c