Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

Autor: Veselina Petrova, Craig S. Pearson, Jared Ching, James R. Tribble, Andrea G. Solano, Yunfei Yang, Fiona M. Love, Robert J. Watt, Andrew Osborne, Evan Reid, Pete A. Williams, Keith R. Martin, Herbert M. Geller, Richard Eva, James W. Fawcett

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

Increasing the supply of growth machinery to axons is a potential strategy for promoting repair after injury. Here the authors demonstrate that the endoplasmic reticulum adaptor molecule Protrudin provides cellular components that support axonal rege

Externí odkaz: https://doaj.org/article/719ad1bd15824dbeb84c041f6d0b9924

International Collaboration for a Sustainable Future

Autor: Caroline McCaw, Elinor Bray-Collins, Isabel Sousa, Machiko Niimi, Valeria Contreras, Samantha Groover, Madavi Nandalall, Evan Reid, Birgitte Woge Nielsen, Jonas Hoffmann, Kristian Iversen, Anne Louise Mogensen, Jeppe Kiel Christensen, Chartsiri Klinpibul, Angus Lewry, Emily McKenzie, Toni Linington

Publikováno v: Futures of Education, Culture and Nature - Learning to Become. 1:31-40

This paper represents a concrete reflection on the first steps in a Collaborative Online International Learning journey through the Global Polytechnic Alliance participation in Map the System. The polytechnics are in Denmark (VIA), Canada (Humber Col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::487047e376d4cdd63747ab73b27885a1
https://doi.org/10.7146/fecun.v1i.130231

Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Autor: Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné

Publikováno v: American Journal of Medical Genetics Part A. 185:3446-3458

The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b74d3b97d70d41828d697cc1cbcc3cfd
https://doi.org/10.1002/ajmg.a.62465

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.

Autor: James W Connell, Rachel Allison, Evan Reid

Publikováno v: PLoS ONE, Vol 11, Iss 3, p e0152413 (2016)

The hereditary spastic paraplegias (HSPs) are genetic conditions in which there is progressive axonal degeneration in the corticospinal tract. Autosomal dominant mutations, including nonsense, frameshift and missense changes, in the gene encoding the

Externí odkaz: https://doaj.org/article/97dd7756bac44c4f8db0a39da594f23b

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Autor: Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood

Korrektur zu 10.1038/s41436-020-0899-x

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb87ec820e417dedaa86c6a0e5a846aa
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898