Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Luan T, Tran"'
Autor:
Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regr
Externí odkaz:
https://doaj.org/article/069bc339519c472a91b38f2db7cff481
Autor:
Julia Macintosh, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Kether Guerrero, Chitra Prasad, Asuri N. Prasad, Tomi Pastinen, Isabelle Thiffault, Benoit Coulombe, Geneviève Bernard
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describ
Externí odkaz:
https://doaj.org/article/29e8d5ae09184e7c941a524a3255f883
Autor:
Stefanie Perrier, Kether Guerrero, Luan T. Tran, Mackenzie A. Michell-Robinson, Geneviève Legault, Bernard Brais, Michel Sylvain, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Isabelle Thiffault, Geneviève Bernard
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes.
Externí odkaz:
https://doaj.org/article/f1fdff3b504e41b18a02f8a168cfe29e
Autor:
Aaron Spahr, Zaliqa Rosli, Mélanie Legault, Luan T. Tran, Simon Fournier, Helia Toutounchi, Lama Darbelli, Cécile Madjar, Cassandra Lucia, Marie-Lou St-Jean, Samir Das, Alan C. Evans, Geneviève Bernard
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development
Externí odkaz:
https://doaj.org/article/458e89caa53041649c3cf15c4c13ae3b
Autor:
Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100034- (2021)
Summary: Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however,
Externí odkaz:
https://doaj.org/article/5f90d21d2bce448496c47a87b96f7a5f
Autor:
Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th
Externí odkaz:
https://doaj.org/article/2b11aa05a4174343ac7596764303089f
Autor:
Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard
Publikováno v:
Neurogenetics, 23(4), 271-274. Springer-Verlag
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05b9edab3fd45f39698927ab6c0a5f6
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
Autor:
Mackenzie A. Michell-Robinson, Stefanie Perrier, Cassandra Lucia, Luan T. Tran, Isabelle Thiffault, Wolfgang Köhler, Geneviève Bernard
Publikováno v:
Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feeaebe57ed6724e6c5742ff3c413dee
https://doi.org/10.1212/wnl.0000000000200228
https://doi.org/10.1212/wnl.0000000000200228
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
No abstract necessary for Letters.
Externí odkaz:
https://doaj.org/article/bb72cb293daf4b9e86a87b0e9c73fbb5
Autor:
Pouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, Aaron Spahr, Luan T. Tran, Renée-Myriam Boucher, Chantal Poulin, Bradley Osterman, Myriam Srour, Bernard Rosenblatt, Sébastien Chénier, Jean-Francois Soucy, Anne-Marie Laberge, Maria Daniela D’Agostino, Cam-Tu Emilie Nguyen, Maxime Morsa, Geneviève Bernard
Publikováno v:
Journal of Child Neurology. :088307382311766
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health care system in Quebec, Canada, to obtain sugg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::225d6ffdf414239d4f027f04a6fedeb2
https://doi.org/10.1177/08830738231176672
https://doi.org/10.1177/08830738231176672