Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Matthew J. Fraidakis"'
Autor:
Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. These rare di
Externí odkaz:
https://doaj.org/article/da1bf0a071b64f849bc224f6de04b0b9
Autor:
Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr
Publikováno v:
Genetics in Medicine, 24, 11, pp. 2308-2317
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Item does not contain fulltext PURPOSE: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influ
Publikováno v:
Neurodegenerative Diseases. 16:373-381
SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retarda
Autor:
Ellen Gelpi, Mathieu Vandenbulcke, Yalda Baradaran-Heravi, Alex Michotte, Alexandre de Mendonça, Elisa Bonomi, Peter Paul De Deyn, Peter Heutink, Bruno Bergmans, Matthew J. Fraidakis, Matthis Synofzik, Dirk Peeters, Eva Parobkova, Christine Van Broeckhoven, Patrick Santens, Peter De Jonghe, Radoslav Matej, Maria Rosário Almeida, Rik Vandenberghe, Hung Phuoc Nguyen, Pau Pastor, Alessandro Padovani, Gabriel Miltenberger-Miltenyi, Jan De Bleecker, Philip Van Damme, Sara Van Mossevelde, Isabel Santana, Ricard Rojas-García, Olivier Deryck, Julie van der Zee, Eric Salmon, Ana Verdelho, Christiana Willems, Nina De Klippel, Miquel Aguilar, Lubina Dillen, Alberto Lleó, Sergi Borrego-Écija, Sebastiaan Engelborghs, Sandro Sorbi, Jonathan Baets, Camilla Ferrari, Monica Diez-Fairen, Silvia Bagnoli, Barbara Borroni, Raquel Sánchez-Valle, Johan Goeman, Anne Sieben, Ignacio Illán-Gala, Patrick Cras, Panagiotis Alexopoulos, Janina Turon-Sans, Benedetta Nacmias, Adrian Ivanoiu, Irene Piaceri, Janine Diehl-Schmid, Jan Versijpt, Silvana Archettim, C. Ferreira, Frederico Simões do Couto, Jordi Clarimón, Dirk Nuytten, Javier Simón-Sánchez, Carlo Wilke
Publikováno v:
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging, Vol. 69, p. 293.e9-293.e11 (2018)
Neurobiology of aging
Neurobiology of aging 69, 293.e9-293.e11 (2018). doi:10.1016/j.neurobiolaging.2018.05.005
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b1513e7629a84ce2ff2b34a8260b64
https://lirias.kuleuven.be/handle/123456789/661661
https://lirias.kuleuven.be/handle/123456789/661661
Autor:
Claudia Stendel, Tine Deconinck, Alessandro Filla, Jonathan Baets, Ingemar Björkhem, Dana M. Bis, Philip Höflinger, Christoph Meisner, Tim W. Rattay, Lisa Abreu, Peter Martus, Jonas Alex Morales Saute, Rebecca Schüle, Antonella Antenora, Stephan Züchner, Andrea Martinuzzi, Wilson Marques, Alessia Arnoldi, Peter Bauer, Laura Bannach Jardim, Thomas Klopstock, Matthew J. Fraidakis, Imma Fischer, Stefan Hauser, Chiara Criscuolo, Ludger Schöls, Peter De Jonghe, Katrien Smets, Martin Paucar, Sarah Wiethoff, Charles Marques Lourenço, Maria Teresa Bassi, Christine Jägle, Marina Scarlato
Publikováno v:
Brain
Brain 140(12), 3112-3127 (2017). doi:10.1093/brain/awx273
Brain 140(12), 3112-3127 (2017). doi:10.1093/brain/awx273
SPG5 is a rare subtype of Hereditary Spastic Paraplegia caused by mutations in the oxysterol-7 alpha-hydroxylase gene CYP7B1. Schols et al. study properties of lipid biomarkers in SPG5 and evaluate a treatment strategy targeting oxysterol accumulatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07087cf88738d19804b48f38ff9c02c7
http://hdl.handle.net/11588/706079
http://hdl.handle.net/11588/706079
Autor:
Isabel Santana, Estrella Gómez-Tortosa, Federica Perrone, Patrick Cras, Alexandre de Mendonça, Jonathan Baets, Panagiotis Alexopoulos, Peter De Jonghe, Alessandro Padovani, Giovanni B. Frisoni, Frederico Simões do Couto, Håkan Thonberg, Philip Van Damme, Silvia Testi, Peter Paul De Deyn, Roberta Ghidoni, Matthew J. Fraidakis, Marc Bruyland, Maria Rosário Almeida, Alex Michotte, Jordi Clarimón, Agustín Ruiz, Jean Delbeck, Ilse Gijselinck, Jennifer Just, Olivier Deryck, Raquel Sánchez-Valle, Wim Robberecht, Matthis Synofzik, Giuliano Binetti, Adrian Ivanoiu, Sara Ortega-Cubero, Rik Vandenberghe, Isabel Hernández, Walter Maetzler, Ludger Schöls, Robert Perneczky, Kristel Sleegers, Ellen Gelpi, Alberto Lleó, Christine Van Broeckhoven, Julie van der Zee, Mercè Boada, Lubina Dillen, Eric Salmon, Marc Cruts, Patrick Santens, Sebastiaan Engelborghs, Janine Diehl-Schmid, Albert Lladó, Gian Maria Fabrizi, Radoslav Matej, Silvia Bagnoli, Pau Pastor, Frank Jessen, Barbara Borroni, Dirk Nuytten, Adrian Danek, Jan Versijpt, Bavo Heeman, Stayko Sarafov, Caroline Graff, Benedetta Nacmias, Luisa Benussi, Bart Dermaut, Johan Goeman, Michael T. Heneka, Katrien Smets, Gabor G. Kovacs, Christiana Willems, Sara Van Mossevelde, Albena Jordanova, Jan De Bleecker, Ricardo Rojas-García, Alfredo Ramirez, Bruno Bergmans, Ivailo Tournev, Veerle Bäumer, Gabriel Miltenberger-Miltenyi, Sandro Sorbi
Publikováno v:
Human Mutation, Vol. 38, No 3 (2017) pp. 297-309
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161
© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109e18977c1b5c191638868beaace792
http://hdl.handle.net/10044/1/45933
http://hdl.handle.net/10044/1/45933
Autor:
Marilyn S. Albert, Kah-Leong Lim, Genny Orso, Eniko Veronika Kovari, Alessandro Padovani, Sonja W. Scholz, Chiara Mattei, José Berciano, François Herrmann, Davide Massucco, Matteo Pardini, Hans Wilhelm Müller, Markus Beu, Shyuan T. Ngo, Karissa C. Arthur, Jasper Verbree, Joshua T. Geiger, Zeeshan Mushtaq, Bing-Han Chai, Stefano Ferrea, Chee-Hoe Ng, Juan C. Troncoso, Jian-xiu Zhu, Carlo Scialò, José Manuel López-Vega, Olga Pletnikova, Panteleimon Giannakopoulos, Federica Rossi, Francesca Benassi, Zhi-jian Su, Caroline G.L. Lee, Druckerei Stückle, Samuel S. Chong, Peng Lei, Constantin Bouras, Richard G. Wise, Pamela A. McCombe, Saumitra Dey Choudhury, Jacqueline A.M. Wubben, Eduards Mamlins, Qi-hao Zhang, Silvia Compostella, William L. Klein, Leonardo Emberti Gialloreti, Peng-hui Yang, Mingjue Zhao, Ana Santurtún, Pascual Sánchez-Juan, Henry Basil Adeline, Liana S. Rosenthal, Ingrid H.C.H.M. Philippens, Davide Sassos, Matthis Synofzik, Vimlesh Kumar, August B. Smit, Maura Brunetti, Lars Wojtecki, Sven Hammesfahr, Xian-ying Zhang, Ezio Giacobini, Lars Dinkelbach, Jordan Grafman, Christina Antke, Barbara Borroni, Javier Riancho, Jochen Klenk, Alexia-Sabine Moldovan, Frank Krueger, Armand Savioz, Robert D. Henderson, Cheng-Wu Zhang, Clemens Becker, Barbara J. Crain, Ashley I. Bush, Ilaria Callegari, Zara A. Ioannides, Pablo Lozano-Cuesta, Massimiliano Filosto, Ronald E. van Kesteren, Mario Amore, Adriano Chiò, Sigrid K. Franke, Craig Blackstone, Alfons Schnitzler, Sri Krishna Gangwar, Matthias J.P. van Osch, Alexander Pantelyat, J M Polo, Flavio Nobili, Fabrizio Rinaldi, Hai-Yang Law, Ya-dong Huang, Özgür Yaldizli, Qi Xiang, Frederik J. Steyn, Andrea Pilotto, Carlo Serrati, Cornelia Schatton, Sam Hofman, Massimo Filippi, Matthew J. Fraidakis, Satz Mengensatzproduktion, Esther A. H. Warnert, Karin Srulijes, Argye E. Hillis, Lars Schwickert, Martin Südmeyer, Walter Maetzler, Eugenia T.E. Hong, Ted M. Dawson, Leonardo Cocito, Maura Cosseddu
Publikováno v:
Neurodegenerative Diseases. 16
Autor:
Matthew J. Fraidakis
Publikováno v:
Journal of the History of the Neurosciences. 19:239-252
Among the most fascinating riddles in neuroscience is the one concerning the poor regeneration capacity of the adult mammalian CNS. A central aetiological hypothesis for the lack of axonal regeneration in the CNS concerns the inhibitory role of myeli
Autor:
Raffaella Lucanto, Monique Plaza, Odile Dubourg, Olivier Bonnot, Olivier Lyon-Caen, Frédéric Sedel, Nathalie Kelley, David Cohen, Matthew J. Fraidakis, Dominique Chauvin
Publikováno v:
CNS Spectrums. 15:231-237
Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-de
Publikováno v:
NeuroReport. 18:185-189
Tumor necrosis factor-alpha is a central cytokine involved in the regulation of the innate immune response. Signal transducers and activators of transcription 4 and signal transducers and activators of transcription 6 are second messengers mediating