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by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 32 - 10
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2013, Volume 50, Issue 1, pp. 25 - 33
Journal Article
NEUROLOGIA, ISSN 0213-4853, 07/2017, Volume 32, Issue 6, pp. 377 - 385
Introduction: Duchenne muscular dystrophy (DMD) is a severe x-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total... 
POPULATION | GENE DELETIONS | DISORDERS | PREVALENCE | LOCUS | CLINICAL NEUROLOGY | Genetic diagnosis | Duchenne muscular dystrophy | DMD | Mutational analysis | Multiplex ligation-dependent probe amplification | Sequencing | ATALUREN | NONSENSE MUTATION | EPIDEMIOLOGY | DYSTROPHINOPATHY
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S95 - S96
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S95 - S96
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2017, Volume 27, pp. S237 - S237
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2017, Volume 27, p. S237
Journal Article