Publications
-
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank and COVID Human Genetic Effort.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
SCIENCE . 370(6515): 423. Number of citations: 1905
-
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: 5
-
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: 16
-
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: 31
-
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 Grp 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: 36
-
Alonso-Pérez, J, González-Quereda, L, Bello, L, Guglieri, M, Straub, V, Gallano, P, Semplicini, C, Pegoraro, E, Zangaro, V, Nascimento-Osorio A, Ortez-Gonzalez CI, Comi, GP, ten Dam, L, De Visser, M, van der Kooi, AJ, Garrido, C, Santos, M, Schara, U, Gangfuss, A, Lokken, N, Storgaard, GH, Vissing, J, Schoser, B, Dekomien, G, Udd, B, Palmio, J, D'Amico, A, Politano, L, Nigro, V, Bruno, C, Panicucci, C, Sarkozy, A, Abdel-Mannan, O, Alonsolimenez, A, Claeys, KG, Gomez-Andrés, D, Munell, F, Costa-Comellas, L, Haberlová, J, Rohlenová, M, Elke, D, De Bleecker, JL, Dominguez-González, C, Tasca, G, Weiss, C, Deconinck, N, Fernández-Torrón, R, Lopez de Munain, Adolfo, Camacho-Salas, A, Melegh, B, Hadzsiev, K, Leonardis, L, Koritnik, B, Garibaldi, M, De Leon-Hernández, JC, Malfatti, E, Fraga-Bau, A, Richard, I, Illa, I and Díaz-Manera, J.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
BRAIN . 143: 2696-2708. Number of citations: 53
-
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
-
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.
-
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: 13
-
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: 25