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Search Results - Bevilacqua, Jorge Alfredo
Search Results - Bevilacqua, Jorge Alfredo
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Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
by
Wang, Haicui
,
Castiglioni, Claudia
,
Kaçar Bayram, Ayşe
,
Fattori, Fabiana
,
Pekuz, Serdar
,
Araneda, Diego
,
Per, Hüseyin
,
Erazo, Ricardo
,
Gümüş, Hakan
,
Zorludemir, Suzan
,
Becker, Kerstin
,
Ortega, Ximena
,
Bevilacqua, Jorge Alfredo
,
Bertini, Enrico
,
Cirak, Sebahattin
Published in
Neuromuscular disorders : NMD
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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
by
Garibaldi, Matteo
,
Rendu, John
,
Brocard, Julie
,
Lacene, Emmanuelle
,
Fauré, Julien
,
Brochier, Guy
,
Beuvin, Maud
,
Labasse, Clemence
,
Madelaine, Angeline
,
Malfatti, Edoardo
,
Bevilacqua, Jorge Alfredo
,
Lubieniecki, Fabiana
,
Monges, Soledad
,
Taratuto, Ana Lia
,
Laporte, Jocelyn
,
Marty, Isabelle
,
Antonini, Giovanni
,
Romero, Norma Beatriz
Published in
Acta neuropathologica communications
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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
by
González-Jamett, Arlek M
,
Baez-Matus, Ximena
,
Olivares, María José
,
Hinostroza, Fernando
,
Guerra-Fernández, Maria José
,
Vasquez-Navarrete, Jacqueline
,
Bui, Mai Thao
,
Guicheney, Pascale
,
Romero, Norma Beatriz
,
Bevilacqua, Jorge A
,
Bitoun, Marc
,
Caviedes, Pablo
,
Cárdenas, Ana M
Published in
Scientific reports
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
by
Esteller, Diana
,
Schiava, Marianela
,
Verdú-Díaz, José
,
Villar-Quiles, Rocío-Nur
,
Dibowski, Boris
,
Venturelli, Nadia
,
Laforet, Pascal
,
Alonso-Pérez, Jorge
,
Olive, Montse
,
Domínguez-González, Cristina
,
Paradas, Carmen
,
Vélez, Beatriz
,
Kostera-Pruszczyk, Anna
,
Kierdaszuk, Biruta
,
Rodolico, Carmelo
,
Claeys, Kristl
,
Pál, Endre
,
Malfatti, Edoardo
,
Souvannanorath, Sarah
,
Alonso-Jiménez, Alicia
,
de Ridder, Willem
,
De Smet, Eline
,
Papadimas, George
,
Papadopoulos, Constantinos
,
Xirou, Sofia
,
Luo, Sushan
,
Muelas, Nuria
,
Vilchez, Juan J.
,
Ramos-Fransi, Alba
,
Monforte, Mauro
,
Tasca, Giorgio
,
Udd, Bjarne
,
Palmio, Johanna
,
Sri, Srtuhi
,
Krause, Sabine
,
Schoser, Benedikt
,
Fernández-Torrón, Roberto
,
López de Munain, Adolfo
,
Pegoraro, Elena
,
Farrugia, Maria Elena
,
Vorgerd, Mathias
,
Manousakis, Georgious
,
Chanson, Jean Baptiste
,
Nadaj-Pakleza, Aleksandra
,
Cetin, Hakan
,
Badrising, Umesh
,
Warman-Chardon, Jodi
,
Bevilacqua, Jorge
,
Earle, Nicholas
,
Campero, Mario
,
Díaz, Jorge
,
Ikenaga, Chiseko
,
Lloyd, Thomas E.
,
Nishino, Ichizo
,
Nishimori, Yukako
,
Saito, Yoshihiko
,
Oya, Yasushi
,
Takahashi, Yoshiaki
,
Nishikawa, Atsuko
,
Sasaki, Ryo
,
Marini-Bettolo, Chiara
,
Guglieri, Michela
,
Straub, Volker
,
Stojkovic, Tanya
,
Carlier, Robert Y.
,
Díaz-Manera, Jordi
Published in
Journal of neurology
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Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
by
Bitoun, Marc
,
Bevilacqua, Jorge A.
,
Prudhon, Bernard
,
Maugenre, Svetlana
,
Taratuto, Ana Lia
,
Monges, Soledad
,
Lubieniecki, Fabiana
,
Cances, Claude
,
Uro-Coste, Emmanuelle
,
Mayer, Michèle
,
Fardeau, Michel
,
Romero, Norma B.
,
Guicheney, Pascale
Published in
Annals of neurology
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Dynamin-2 function and dysfunction along the secretory pathway
by
González-Jamett, Arlek M
,
Momboisse, Fanny
,
Haro-Acuña, Valentina
,
Bevilacqua, Jorge A
,
Caviedes, Pablo
,
Cárdenas, Ana María
Published in
Frontiers in endocrinology (Lausanne)
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Estimating covariance functions of multivariate skew-Gaussian random fields on the sphere
by
Alegría, A.
,
Caro, S.
,
Bevilacqua, M.
,
Porcu, E.
,
Clarke, J.
Published in
Spatial statistics
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