Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Paola S. Denora"'
Autor:
Khalid Hamid El Hachimi, Tine Deconinck, Alessandro Malandrini, Jean Jacques Martin, Giovanni Stevanin, Anne Sieben, Alexis Brice, Michael Gonzales, Federica Zolfanelli, Stephan Züchner, Peter De Jonghe, Carlo Casali, Frédéric Darios, Chantal Ceuterick-de Groote, Filippo M. Santorelli, Paola S. Denora, Dirk Peeters, Katrien Smets
Publikováno v:
Brain
The most common autosomal recessive spastic paraplegia is caused by mutations in SPG11. Denora et al. report the first postmortem neuropathological analysis of two unrelated patients with SPG11, and demonstrate clinical and pathological overlap betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b428b958b294b1b21cd6136d4fa79bbc
http://hdl.handle.net/11365/998591
http://hdl.handle.net/11365/998591
Autor:
N. Elleuch, Alexis Brice, Samir Belal, Chokri Mhiri, Imed Feki, Jeremy Truchetto, Mohamed Imed Miladi, Amir Boukhris, Cyril Goizet, Giovanni Stevanin, Paola S. Denora
Publikováno v:
Clinical Genetics. 75:527-536
Hereditary spastic paraplegias (HSP) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. We performed the first clinical, epidemiological
Autor:
Eugenia Storti, Paola S. Denora, Loretta Racis, Filippo M. Santorelli, Alessandra Tessa, Antonio Orlacchio
The hereditary spastic paraplegias (HSP) are characterized by spastic gait with weakness in the legs and additional neurological or extra-neurological signs in "complicated" forms. The past two decades have witnessed major advances in our understandi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfb75daa7b3530a2b77f221c5eedec7
http://hdl.handle.net/11391/1390636
http://hdl.handle.net/11391/1390636
Autor:
Paola S. Denora, Knut Brockmann, Marianna Ciccolella, Jeremy Truchetto, Giovanni Stevanin, Filippo M. Santorelli
Publikováno v:
Movement Disorders. 25:501-503
Autor:
Giovanni Stevanin, Giorgia Montagna, Hamid Azzedine, Enza Maria Valente, Alexandra Durr, Valentina Scarano, Naima Bouslam, Denise Cassandrini, Paola S. Denora, Chiara Criscuolo, Soraya Belarbi, Antonio Orlacchio, Philippe Jonveaux, Gabriella Silvestri, Anne Marie Ouvrad Hernandez, Meriem Tazir, Caterina Mariotti, Knut Brockmann, Alessandro Malandrini, Marjo S. van der Knapp, Marcella Neri, Hassan Tonekaboni, Mariarosa A. B. Melone, Alessandra Tessa, M. Teresa Dotti, Michela Tosetti, Flavia Pauri, Antonio Federico, Carlo Casali, Vitor T. Cruz, José L. Loureiro, Federico Zara, Sylvie Forlani, Enrico Bertini, Paula Coutinho, Alexis Brice, Filippo M. S.a.n.t.o.r.e.l.l.i., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::aef27922d7c303845601798717330a86
http://hdl.handle.net/11588/441417
http://hdl.handle.net/11588/441417
Autor:
Marcella Masciullo, Gabriella Silvestri, Massimo Santoro, Anna Modoni, Filippo M. Santorelli, Paola S. Denora, Fabiana Fattori, Pietro Attilio Tonali
Publikováno v:
Journal of Neurology. 255:1429-1431
Publikováno v:
Journal of Neurology. 255:1142-1144
Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identifie
Publikováno v:
Handbook of clinical neurology. 113
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in "complicated" forms
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in “complicated” f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c277c6afc2d8dd076f309c30637fbe69
https://doi.org/10.1016/b978-0-444-59565-2.00060-5
https://doi.org/10.1016/b978-0-444-59565-2.00060-5
Autor:
Charles Duyckaerts, Aurélien Dauphin, Elodie Martin, Giovanni Stevanin, Paola S. Denora, Frédéric Darios, Reena Prity Murmu, Khalid Hamid El Hachimi, Agnès Rastetter, Alexis Brice, Marie-Paule Muriel, Typhaine Esteves, José Carlos Fernandez
Publikováno v:
Molecular and cellular neurosciences. 47(3)
Truncating mutations in the SPG11 and SPG15 genes cause complicated spastic paraplegia, severe neurological conditions due to loss of the functions of spatacsin and spastizin, respectively. We developed specific polyclonal anti-spatacsin (SPG11) and