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

Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment.

Autor: Cascajo-Almenara MV; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Juliá-Palacios N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Sánchez-Cuesta A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Fernández-Ayala DM; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., García-Díaz E; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Oliva C; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., O Callaghan MDM; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08028, Barcelona, Spain., Moreno-Lozano PJ; Internal Medicine Department, Clinic Hospital and University of Barcelona, 08036, Barcelona, Spain., Muchart J; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Nascimento A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Ortez CI; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Natera-de Benito D; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pineda M; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Rivera N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Navas P; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, Padua University, 35128, Padua, Italy., Palau F; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, 08036, Barcelona, Spain., Yubero D; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., García-Cazorla A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA. udai@pitt.edu., Santos-Ocaña C; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. csanoca@upo.es.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain. csanoca@upo.es., Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. Rafael.artuch@sjd.es.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain. Rafael.artuch@sjd.es.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 426-434. Date of Electronic Publication: 2024 Feb 05.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

Autor: Martínez-Monseny AF; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Edo A; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Casas-Alba D; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Izquierdo-Serra M; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Bolasell M; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Conejo D; Pediatric Department, Complejo Asistencial de Burgos, 09006 Burgos, Spain., Martorell L; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain., Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Carrera L; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ortez CI; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Nascimento A; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Oliva B; Structural Bioinformatics Lab, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Fernández-Fernández JM; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Serrano M; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 May 13; Vol. 22 (10). Date of Electronic Publication: 2021 May 13.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Autor: Rodríguez MA; Neuromuscular Unit, Department of Neuropaediatrics, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de DéuBarcelona, Spain., Del Rio Barquero LM; Department of Medical Imaging, Hospital Sant Joan de DéuBarcelona, Spain.; CETIR Centre MèdicBarcelona, Spain., Ortez CI; Neuromuscular Unit, Department of Neuropaediatrics, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de DéuBarcelona, Spain., Jou C; Department of Pathology, Hospital Sant Joan de DeuBarcelona, Spain.; Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos IIIMadrid, Spain., Vigo M; Department of Rehabilitation and Physical Medicine, Hospital Sant Joan de DeuBarcelona, Spain., Medina J; Department of Rehabilitation and Physical Medicine, Hospital Sant Joan de DeuBarcelona, Spain., Febrer A; Department of Rehabilitation and Physical Medicine, Hospital Sant Joan de DeuBarcelona, Spain., Ramon-Krauel M; Department of Endocrinology, Institut de Recerca Sant Joan de Deu, Hospital Sant Joan de DeuBarcelona, Spain., Diaz-Manera J; Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de BarcelonaBarcelona, Spain., Olive M; Department of Pathology and Neuromuscular Unit, Bellvitge Biomedical Research Institute-Hospital de Bellvitge, Hospitalet de LlobregatBarcelona, Spain., González-Mera L; Department of Pathology and Neuromuscular Unit, Bellvitge Biomedical Research Institute-Hospital de Bellvitge, Hospitalet de LlobregatBarcelona, Spain.; Department of Neurology, Hospital de ViladecansBarcelona, Spain., Nascimento A; Neuromuscular Unit, Department of Neuropaediatrics, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de DéuBarcelona, Spain.; Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos IIIMadrid, Spain., Jimenez-Mallebrera C; Neuromuscular Unit, Department of Neuropaediatrics, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de DéuBarcelona, Spain.; Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos IIIMadrid, Spain.

Publikováno v: Frontiers in aging neuroscience [Front Aging Neurosci] 2017 Aug 08; Vol. 9, pp. 268. Date of Electronic Publication: 2017 Aug 08 (Print Publication: 2017).

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

Autor: Montero R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain., Yubero D; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain., Villarroya J; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Biochemistry and Molecular Biology Department, Biomedical Institute University of Barcelona (IBUB), Center for Biomedical Research on Obesity and Nutrition (CIBEROBN), Madrid, Spain., Henares D; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Jou C; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Pathology Department, Hospital Sant Joan de Déu, Barcelona, Spain., Rodríguez MA; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Ramos F; Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain., Nascimento A; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Ortez CI; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Campistol J; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain., Perez-Dueñas B; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain., O'Callaghan M; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain., Pineda M; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain., Garcia-Cazorla A; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuropaediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain., Oferil JC; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Montoya J; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Biochemistry and Molecular Biology Department, University of Zaragoza, Zaragoza, Spain., Ruiz-Pesini E; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Biochemistry and Molecular Biology Department, University of Zaragoza, Zaragoza, Spain.; Fundación ARAID, Universidad de Zaragoza, Zaragoza, Spain., Emperador S; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Biochemistry and Molecular Biology Department, University of Zaragoza, Zaragoza, Spain., Meznaric M; Institute of Anatomy, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Campderros L; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Biochemistry and Molecular Biology Department, Biomedical Institute University of Barcelona (IBUB), Center for Biomedical Research on Obesity and Nutrition (CIBEROBN), Madrid, Spain., Kalko SG; Bioinformatics Core Facility, IDIBAPS, Hospital Clinic, Barcelona, Spain., Villarroya F; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Biochemistry and Molecular Biology Department, Biomedical Institute University of Barcelona (IBUB), Center for Biomedical Research on Obesity and Nutrition (CIBEROBN), Madrid, Spain., Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain., Jimenez-Mallebrera C; Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.; Institute of Pediatric Research Sant Joan de Déu, Barcelona, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain.

Publikováno v: PloS one [PLoS One] 2016 Feb 11; Vol. 11 (2), pp. e0148709. Date of Electronic Publication: 2016 Feb 11 (Print Publication: 2016).