Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Raffaella Rusconi"'
Autor:
Michael Klinkenberg, Michael Helwig, Rita Pinto-Costa, Angela Rollar, Raffaella Rusconi, Donato A. Di Monte, Ayse Ulusoy
Publikováno v:
Cells, Vol 12, Iss 4, p 569 (2023)
Neuron-to-neuron transfer of pathogenic α-synuclein species is a mechanism of likely relevance to Parkinson’s disease development. Experimentally, interneuronal α-synuclein spreading from the low brainstem toward higher brain regions can be repro
Externí odkaz:
https://doaj.org/article/a9f17c2df7f4488086dd099e1b9b41d1
Autor:
Giulia Bechi, Raffaella Rusconi, Sandrine Cestèle, Pasquale Striano, Silvana Franceschetti, Massimo Mantegazza
Publikováno v:
Neurobiology of Disease, Vol 75, Iss , Pp 100-114 (2015)
Mutations of the voltage gated Na+ channel NaV1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III). In previous studies, some rescuable epileptogenic folding defective mutants loca
Externí odkaz:
https://doaj.org/article/ac15101ab4f64152b47ba54e721344f9
Autor:
Ayse Ulusoy, Raffaella Rusconi, Blanca I. Pérez‐Revuelta, Ruth E. Musgrove, Michael Helwig, Bettina Winzen‐Reichert, Donato A. Di Monte
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 7, Pp 1119-1127 (2013)
Abstract α‐Synuclein accumulation and pathology in Parkinson's disease typically display a caudo‐rostral pattern of progression, involving neuronal nuclei in the medulla oblongata at the earliest stages. In this study, selective expression and a
Externí odkaz:
https://doaj.org/article/736dd982095747f796ecc6f82152b978
Autor:
Bin Tang, Karoni Dutt, Ligia Papale, Raffaella Rusconi, Anupama Shankar, Jessica Hunter, Sergio Tufik, Frank H. Yu, William A. Catterall, Massimo Mantegazza, Alan L. Goldin, Andrew Escayg
Publikováno v:
Neurobiology of Disease, Vol 35, Iss 1, Pp 91-102 (2009)
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To determine the effects of SCN1A
Externí odkaz:
https://doaj.org/article/efa7f28a105f467082a33230c92c7409
Autor:
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036
https://hal.archives-ouvertes.fr/hal-02352036
Publikováno v:
Aging cell 17(2), e12727 (2018). doi:10.1111/acel.12727
Aging Cell
Aging Cell
Summary Increased expression of α‐synuclein can initiate its long‐distance brain transfer, representing a potential mechanism for pathology spreading in age‐related synucleinopathies, such as Parkinson's disease. In this study, the effects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28450d780740326566d939c63a68009e
Autor:
Patrick, May, Simon, Girard, Merle, Harrer, Dheeraj R, Bobbili, Julian, Schubert, Stefan, Wolking, Felicitas, Becker, Pamela, Lachance-Touchette, Caroline, Meloche, Micheline, Gravel, Cristina E, Niturad, Julia, Knaus, Carolien, De Kovel, Mohamad, Toliat, Anne, Polvi, Michele, Iacomino, Rosa, Guerrero-López, Stéphanie, Baulac, Carla, Marini, Holger, Thiele, Janine, Altmüller, Kamel, Jabbari, Ann-Kathrin, Ruppert, Wiktor, Jurkowski, Dennis, Lal, Raffaella, Rusconi, Sandrine, Cestèle, Benedetta, Terragni, Ian D, Coombs, Christopher A, Reid, Pasquale, Striano, Hande, Caglayan, Auli, Siren, Kate, Everett, Rikke S, Møller, Helle, Hjalgrim, Hiltrud, Muhle, Ingo, Helbig, Wolfram S, Kunz, Yvonne G, Weber, Sarah, Weckhuysen, Peter De, Jonghe, Sanjay M, Sisodiya, Rima, Nabbout, Silvana, Franceschetti, Antonietta, Coppola, Maria S, Vari, Dorothée, Kasteleijn-Nolst Trenité, Betul, Baykan, Ugur, Ozbek, Nerses, Bebek, Karl M, Klein, Felix, Rosenow, Dang K, Nguyen, François, Dubeau, Lionel, Carmant, Anne, Lortie, Richard, Desbiens, Jean-François, Clément, Cécile, Cieuta-Walti, Graeme J, Sills, Pauls, Auce, Ben, Francis, Michael R, Johnson, Anthony G, Marson, Bianca, Berghuis, Josemir W, Sander, Andreja, Avbersek, Mark, McCormack, Gianpiero L, Cavalleri, Norman, Delanty, Chantal, Depondt, Martin, Krenn, Fritz, Zimprich, Sarah, Peter, Marina, Nikanorova, Robert, Kraaij, Jeroen, van Rooij, Rudi, Balling, M Arfan, Ikram, André G, Uitterlinden, Giuliano, Avanzini, Stephanie, Schorge, Steven, Petrou, Massimo, Mantegazza, Thomas, Sander, Eric, LeGuern, Jose M, Serratosa, Bobby P C, Koeleman, Aarno, Palotie, Anna-Elina, Lehesjoki, Michael, Nothnagel, Peter, Nürnberg, Snezana, Maljevic, Federico, Zara, Patrick, Cossette, Roland, Krause, Holger, Lerche, Anja C M, Sonsma
Publikováno v:
The Lancet. Neurology. 17(8)
Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::abc81aa549a8c9c699183142c36e3a33
https://pubmed.ncbi.nlm.nih.gov/30033051
https://pubmed.ncbi.nlm.nih.gov/30033051
Autor:
Raffaella Rusconi, Emanuele Schiavon, Silvana Franceschetti, Massimo Mantegazza, Sandrine Cestèle
Publikováno v:
Proceedings of the National Academy of Sciences. 110:17546-17551
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0b209f65bca945029d18405981e0fa
https://doi.org/10.1073/pnas.1309827110
https://doi.org/10.1073/pnas.1309827110
Autor:
Blanca I. Pérez‐Revuelta, Raffaella Rusconi, Michael Helwig, Bettina Winzen‐Reichert, Ruth E. Musgrove, Donato A. Di Monte, Ayse Ulusoy
Publikováno v:
EMBO molecular medicine 5(7), 1119-1127 (2013). doi:10.1002/emmm.201302475
EMBO Molecular Medicine
EMBO Molecular Medicine
α-Synuclein accumulation and pathology in Parkinson's disease typically display a caudo-rostral pattern of progression, involving neuronal nuclei in the medulla oblongata at the earliest stages. In this study, selective expression and accumulation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a76945935822ea07a8e52dcc1b01120
https://doi.org/10.1002/emmm.201302475
https://doi.org/10.1002/emmm.201302475
Autor:
Raffaella Rusconi, Maria Elena Mantione, Gabriele Fragasso, Ottavio Alfieri, Francesco Maisano, Chiara Foglieni
Publikováno v:
International journal of cardiology. 219
Objective Left atrial (LA) enlargement, a compensatory mechanism in chronic mitral regurgitation (MR) increasing the risk of atrial fibrillation (AF) and predictive of cardiac events, involves structural alterations. We characterized LA features in p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2f060de3acc0b9106729ce378805df
https://pubmed.ncbi.nlm.nih.gov/27372606
https://pubmed.ncbi.nlm.nih.gov/27372606