Research

Applied research in neuromuscular diseases

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Publications

  • Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Andrea Martín Nalda, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela SN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow AL, Dalgard CL, Milner JD, Vinh DC, Mogensen TH, Marr N, Spaan AN, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli MJ, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton RP, Zhang SY, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice CM, Abel L, Notarangelo LD, Cobat A, Su HC, Casanova JL, COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort and NIAID-USUHS/TAGC COVID Immunity Group.

    Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

    SCIENCE . 370(6515): 422. Number of citations: 1468

    [doi:10.1126/science.abd4570]

  • Brisset M, Metay C, Carlier RY, Badosa C, Marques C, Schalkwijk J, vanVlijmen-Willems I, Jimenez-Mallebrera C, Keren B, Jobic V, Laforêt P and Malfatti E.

    Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

    NEUROMUSCULAR DISORDERS . 30(10): 833-838. Number of citations: 2

    [doi:10.1016/j.nmd.2020.09.002]

  • Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.

    Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    ANTIOXIDANTS . 9(10): . Number of citations: 11

    [doi:10.3390/antiox9100979]

  • Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento-Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E and ISMAC group.

    Gain and loss of abilities in type II SMA: A 12-month natural history study.

    NEUROMUSCULAR DISORDERS . 30(9): 765-771. Number of citations: 18

    [doi:10.1016/j.nmd.2020.07.004]

  • Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Nascimento-Osorio A, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E and ISMAC group and collaborators..

    Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

    NEUROMUSCULAR DISORDERS . 30(9): 756-764. Number of citations: 20

    [doi:10.1016/j.nmd.2020.07.005]

  • Alonso-Perez, Jorge, Gonzalez-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento-Osorio A, Ortez-Gonzalez CI, Comi, Giacomo Pietro, Ten Dam, Leroy, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, GangfuSS, Andrea, Lokken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andres, David, Munell, Francina, Costa-Comellas, Laura, Haberlova, Jana, Rohlenova, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-Gonzalez, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernandez-Torron, Roberto, Lopez de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Bela, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernandez, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel and Diaz-Manera, Jordi.

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    BRAIN . 143: 2696-2708. Number of citations: 36

    [doi:10.1093/brain/awaa228]

  • Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.

    Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

    NEUROMUSCULAR DISORDERS . 30(9): 719-726. Number of citations: 3

    [doi:10.1016/j.nmd.2020.07.009]

  • Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.

    Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases

    Neurochirurgie . 66(4): 266-269.

    [doi:10.1016/j.neuchi.2020.01.003]

  • Nunes Dias L, Candela-Cantó SA, Jou-Munoz C, Aparicio J, García-García S and Mena-Bernal JH.

    Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature.

    CHILDS NERVOUS SYSTEM . 36(7): 1557-1561. Number of citations: 6

    [doi:10.1007/s00381-019-04496-3]

  • Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    SCIENTIFIC REPORTS . 10(1): 10111-10111. Number of citations: 17

    [doi:10.1038/s41598-020-66940-8]