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Page 1
Antibody conversion rates to SARS-CoV-2 in saliva from children attending summer schools in Barcelona, Spain.
Dobaño C, Alonso S, Fernández de Sevilla M, Vidal M, Jiménez A, Pons Tomas G, Jairoce C, Melé Casas M, Rubio R, Hernández García M, Ruiz-Olalla G, Girona-Alarcón M, Barrios D, Santano R, Mitchell RA, Puyol L, Mayer L, Chi J, Rodrigo Melero N, Carolis C, Garcia-Miquel A, Bonet-Carne E, Claverol J, Cubells M, Fortuny C, Fumadó V, Jou C, Muñoz-Almagro C, Izquierdo L, Bassat Q, Gratacós E, Aguilar R, García-García JJ, Moncunill G, Jordan I. Dobaño C, et al. Among authors: jou c. BMC Med. 2021 Nov 23;19(1):309. doi: 10.1186/s12916-021-02184-1. BMC Med. 2021. PMID: 34809617 Free PMC article.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: jou c. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: jou c. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. Among authors: jou c. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
Susceptibility to Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children and Adults: A Seroprevalence Study of Family Households in the Barcelona Metropolitan Region, Spain.
Brotons P, Launes C, Buetas E, Fumado V, Henares D, de Sevilla MF, Redin A, Fuente-Soro L, Cuadras D, Mele M, Jou C, Millat P, Jordan I, Garcia-Garcia JJ, Bassat Q, Muñoz-Almagro C; Kids Corona Study Group. Brotons P, et al. Among authors: jou c. Clin Infect Dis. 2021 Jun 15;72(12):e970-e977. doi: 10.1093/cid/ciaa1721. Clin Infect Dis. 2021. PMID: 33180914 Free PMC article.
Similarities and differences between the immunopathogenesis of COVID-19-related pediatric multisystem inflammatory syndrome and Kawasaki disease.
Esteve-Sole A, Anton J, Pino-Ramirez RM, Sanchez-Manubens J, Fumadó V, Fortuny C, Rios-Barnes M, Sanchez-de-Toledo J, Girona-Alarcón M, Mosquera JM, Ricart S, Launes C, de Sevilla MF, Jou C, Muñoz-Almagro C, González-Roca E, Vergara A, Carrillo J, Juan M, Cuadras D, Noguera-Julian A, Jordan I, Alsina L. Esteve-Sole A, et al. Among authors: jou c. J Clin Invest. 2021 Mar 15;131(6):e144554. doi: 10.1172/JCI144554. J Clin Invest. 2021. PMID: 33497356 Free PMC article.
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children in Summer Schools Applying Stringent Control Measures in Barcelona, Spain.
Jordan I, Fernandez de Sevilla M, Fumado V, Bassat Q, Bonet-Carne E, Fortuny C, Garcia-Miquel A, Jou C, Adroher C, Melé Casas M, Girona-Alarcon M, Hernández Garcia M, Pons Tomas G, Ajanovic S, Arias S, Balanza N, Baro B, Millat-Martinez P, Varo R, Alonso S, Álvarez-Lacalle E, López D, Claverol J, Cubells M, Brotons P, Codina A, Cuadras D, Bruijning-Verhagen P, Faust S, Munro A, Muñoz-Almagro C, Català M, Prats C, Garcia-Garcia JJ, Gratacós E. Jordan I, et al. Among authors: jou c. Clin Infect Dis. 2022 Jan 7;74(1):66-73. doi: 10.1093/cid/ciab227. Clin Infect Dis. 2022. PMID: 33709138 Free PMC article.
Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant.
Ortigoza-Escobar JD, Fernández de Sevilla M, Monfort L, Antón J, Iglesias E, Rebollo M, Del-Prado-Sánchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou C, Catalá A. Ortigoza-Escobar JD, et al. Among authors: jou c. J Neuroimmunol. 2022 Aug 15;369:577917. doi: 10.1016/j.jneuroim.2022.577917. Epub 2022 Jun 12. J Neuroimmunol. 2022. PMID: 35717738
168 results