Zobrazeno 1 - 10
of 613
pro vyhledávání: '"Andrea Superti‐Furga"'
Autor:
Xhyljeta Luta, Fabio Zanchi, Marco Fresa, Enrica Porccedu, Sanjiv Keller, Judith Bouchardy, Sébastien Déglise, Salah Dine Qanadli, Matthias Kirsch, Grégoire Wuerzner, Andrea Superti-Furga, Giacomo Buso, Lucia Mazzolai
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role of arterial tortuosity in non-atherosclerotic vascular diseases remain to be fully elucidated. This study ai
Externí odkaz:
https://doaj.org/article/cda633fcc2b648b99366f74622844090
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-3 (2024)
Abstract A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used numberin
Externí odkaz:
https://doaj.org/article/83fccbd25d7a4da1913febfeb89442a0
Autor:
Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani, Christel Tran
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess we
Externí odkaz:
https://doaj.org/article/332dc4c695084e9ea894cfb94a935e06
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:
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or
Externí odkaz:
https://doaj.org/article/45ebab2103354052b1c5d15d59bd2b73
Autor:
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature,
Externí odkaz:
https://doaj.org/article/0db8d6571bac4baba76e86c4d26f83f3
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged a
Externí odkaz:
https://doaj.org/article/2e22afd28f3b47bc92c2020e4bbe21a1
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:
Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021)
Background: In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc),
Externí odkaz:
https://doaj.org/article/63d32cbd678940469e7e39b261c4ce6e