The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Autor: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp

Publikováno v: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148
https://doi.org/10.1212/wnl.0000000000006245

074  Long-term effect of idebenone in reducing respiratory function decline in patients with Duchenne muscular dystrophy

Autor: Servais, L, Mayer, OH, McDonald, CM, Voit, T, Mercuri, E, Buyse, GM

Publikováno v: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2022, Vol. 93 Issue: 6 pA35-A35, 1p

Extracellular vesicle-derived miRNAs improve stem cell-based therapeutic approaches in muscle wasting conditions.

Autor: Yedigaryan L; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Martínez-Sarrà E; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Giacomazzi G; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Giarratana N; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., van der Veer BK; Department of Development and Regeneration, Laboratory for Stem Cell and Developmental Epigenetics, Stem Cell Institute, KU Leuven, Leuven, Belgium., Rotini A; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Querceto S; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Grosemans H; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Cortés-Calabuig Á; Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Salucci S; Cellular Signalling Laboratory, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy., Battistelli M; Department of Biomolecular Sciences, Urbino University Carlo Bo, Urbino, Italy., Falcieri E; Department of Biomolecular Sciences, Urbino University Carlo Bo, Urbino, Italy., Gijsbers R; Laboratory for Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, Leuven Viral Vector Core, KU Leuven, Leuven, Belgium., Quattrocelli M; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Heart Institute, University of Cincinnati College of Medicine and Molecular Cardiovascular Biology Division, Cincinnati, OH, United States., Peng Koh K; Department of Development and Regeneration, Laboratory for Stem Cell and Developmental Epigenetics, Stem Cell Institute, KU Leuven, Leuven, Belgium., De Waele L; Department of Development and Regeneration, Pediatric Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Buyse GM; Department of Development and Regeneration, Pediatric Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Derua R; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, SyBioMa, KU Leuven, Leuven, Belgium., Sampaolesi M; Translational Cardiomyology Laboratory, Stem Cell and Developmental Biology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Histology and Medical Embryology Unit, Department of Anatomy, Histology, Forensic Medicine and Orthopaedics, Sapienza University of Rome, Rome, Italy.

Publikováno v: Frontiers in immunology [Front Immunol] 2022 Nov 14; Vol. 13, pp. 977617. Date of Electronic Publication: 2022 Nov 14 (Print Publication: 2022).

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Autor: Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy., Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy., Bebin E; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, AL, USA., Huh L; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut Neuromyogène, Equipe Métabolisme énergétique et développement neuronal, CNRS, UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Siekierska A; Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Takeguchi R; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan., Carneiro M; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France., De Palma L; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy., Guella I; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan., Shi RM; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China., Kikuchi A; Department of Pediatrics, Tohoku University Hospital, Sendai, Japan., Kobayashi T; Division of Child Development, Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Jung J; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut Neuromyogène, Equipe Métabolisme énergétique et développement neuronal, CNRS, UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Lagae L; Department of Development and Regeneration, University Hospitals KU Leuven, Leuven, Belgium., Milh M; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France., Mathieu ML; Department of Pediatric Neurology, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France., Minassian BA; Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA., Novelli A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Pietrafusa N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Terracciano A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Cooper GM; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy., Villard L; Aix Marseille University, Inserm, MMG, Marseille, France., Villeneuve N; Department of Pediatric Neurology, APHM, Hopital de la Timone, Marseille, France., Buyse GM; Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Scheffer IE; Austin Health, and Royal Children's Hospital, Florey and Murdoch Institutes, University of Melbourne, Melbourne, Australia., Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.

Publikováno v: Epilepsia [Epilepsia] 2020 Jul; Vol. 61 (7), pp. e71-e78. Date of Electronic Publication: 2020 Jul 09.

Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.

Autor: Patel AM; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium. Abdulsamie.patel@kuleuven.be., Wierda K; Center for Brain & Disease Research, VIB, Leuven, Belgium., Thorrez L; KU Leuven Department of Development and Regeneration, Campus Kulak, Kortrijk, Belgium., van Putten M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., De Smedt J; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium., Ribeiro L; Center for Brain & Disease Research, VIB, Leuven, Belgium., Tricot T; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium., Gajjar M; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium., Duelen R; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium.; Translational Cardiomyology Lab, Stem Cell Biology and Embryology Unit, KU Leuven, Leuven, Belgium., Van Damme P; Center for Brain & Disease Research, VIB, Leuven, Belgium.; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.; Neurology Department, University Hospitals Leuven, Leuven, Belgium., De Waele L; KU Leuven Department of Development and Regeneration, Campus Kulak, Kortrijk, Belgium.; Department of Paediatric Child Neurology, University Hospitals Leuven, Leuven, Belgium.; Vesalius Research Center, Laboratory of Neurobiology, KU Leuven, Leuven, Belgium., Goemans N; Department of Paediatric Child Neurology, University Hospitals Leuven, Leuven, Belgium., Tanganyika-de Winter C; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Costamagna D; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium.; Translational Cardiomyology Lab, Stem Cell Biology and Embryology Unit, KU Leuven, Leuven, Belgium., Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Duyvenvoorde H; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands., Sampaolesi M; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium.; Translational Cardiomyology Lab, Stem Cell Biology and Embryology Unit, KU Leuven, Leuven, Belgium., Buyse GM; Department of Paediatric Child Neurology, University Hospitals Leuven, Leuven, Belgium., Verfaillie CM; Stem Cell Institute Leuven, Dept. of Development and Regeneration, KU Leuven, Leuven, Belgium. Catherine.verfaillie@kuleuven.be.

Publikováno v: Translational psychiatry [Transl Psychiatry] 2019 Aug 21; Vol. 9 (1), pp. 200. Date of Electronic Publication: 2019 Aug 21.