Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Béryl Royer‐Bertrand"'
Autor:
Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1072-1080 (2019)
Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the susp
Externí odkaz:
https://doaj.org/article/691397fd3c9542e4ba75adb6c4e5b951
Autor:
Carlo Rivolta, Béryl Royer Bertrand, Virginie G. Peter, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Luisa Coutinho Santos, Alireza Pasdar, Katarina Cisarova, Mehran Piran, Mathieu Quinodoz, Nicola Bedoni, Ali Ghanbari Asad, Andrea Superti-Furga, Majid Mojarrad, Ana Berta Sousa
Publikováno v:
Nature communications, vol. 12, no. 1, pp. 518
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, as long as you giveappropriate cre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a2c3b02407893cc63692f43ede378f
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
Autor:
Stéphanie, Droz-Georget, Orbicia, Riccio, Béryl, Royer-Bertrand, Andrea, Superti-Furga, Fabio, Candotti
Publikováno v:
Revue medicale suisse. 13(557)
Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0d918d75b7e96b7286ba6ec1be40176
https://pubmed.ncbi.nlm.nih.gov/28722367
https://pubmed.ncbi.nlm.nih.gov/28722367
Autor:
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-11 (2021)
Abstract Background De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. Methods Following the observation of
Externí odkaz:
https://doaj.org/article/89ee4f1a316a45138173d77182f9250e
Autor:
Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consisten
Externí odkaz:
https://doaj.org/article/97f01ac4fe4242c6ba325a24963c3318
Autor:
Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini-Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Publikováno v:
PLoS Genetics, Vol 16, Iss 12, p e1009201 (2020)
Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point o
Externí odkaz:
https://doaj.org/article/6d13f01c6aab43f98a7237adb4d4366b
Autor:
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of ho
Externí odkaz:
https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a