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Journal Article
by Vidal, Silvia and Brandi, Núria and Pacheco, Paola and Gerotina, Edgar and Blasco, Laura and Trotta, Jean-Rémi and Derdak, Sophia and Del Mar O'Callaghan, Maria and Garcia-Cazorla, Àngels and Pineda, Mercè and Armstrong, Judith and Aguirre, Francisco Javier and Aleu, Montserrat and Alonso, Xènia and Alsius, Mercè and Inmaculada Amorós, Maria and Antiñolo, Guillermo and Aquino, Lourdes and Arellano, Carmen and Arriola, Gema and Arteaga, Rosa and Baena, Neus and Barcos, Montserrat and Belzunces, Nuria and Boronat, Susana and Camacho, Tomás and Campistol, Jaume and Del Campo, Miguel and Campo, Andrea and Cancho, Ramon and Candau, Ramon and Canós, Ignacio and Carrascosa, María Del Carmen and Carratalá-Marco, Francisco and Casano, Jovaní and Castro, Pedro and Cobo, Ana and Colomer, Jaime and Conejo, David and Corrales, Maria José and Cortés, Rocío and Cruz, Gabriel and Csányi, Gábor and De Santos, María Teresa and De Toledo, María and Toro, Mireia Del and Domingo, Rosario and Duat, Anna and Duque, Rosario and Esparza, Ana María and Fernández, Rosa and Fons, Maria Carme and Fontalba, Ana and Galán, Enrique and Gallano, Pia and Gamundi, María José and García, Pedro Luis and García, María Del Mar and García-Barcina, María and Garcia-Catalan, María Jesús and García-Miñaur, Sixto and Garcia-Peñas, Juan Jose and García-Silva, María Teresa and Gassio, Rosa and Geán, Esther and Gil, Belén and Gökben, Sarenur and Gonzalez, Luis and Gonzalez, Veronica and Gonzalez, Julieta and González, Gloria and Guillén, Encarna and Guitart, Miriam and Guitet, Montserrat and Gutierrez, Juan Manuel and Gutiérrez, Eva and Herranz, Jose Luís and Iglesias, Gemma and Karacic, Iva and Lahoz, Carlos H and Lao, José Ignacio and Lapunzina, Pablo and Lautre-Ecenarro, María Jesús and Lluch, María Dolores and López, Laura and López-Ariztegui, Asunción and Macaya, Alfons and Marín, Rosario and Marquez, Charles M. Lourenço and Martín, Elena and Martínez, Beatriz and Martínez-Salcedo, Eduardo and Mas, María José and Mateo, Gonzalo and Mendez, Pilar and Jimenez, Amparo Morant and Moreno, Sira and Mulas, Fernando and Narbona, Juan and Nascimento, Andrés and ... and Rett Working Grp and Rett Working Group
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 12288 - 11
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 140 - 21
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 06/2019, Volume 10
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer... 
Dendritic cells | T cells | Antigens | Metabolism, Inborn errors of | Lysosomes | Models | Rats as laboratory animals | Research | monocytes | lysosomal storage diseases | dendritic cells | CD1d | CD1b | lipid antigen presentation
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1661-6596, 08/2019, Volume 20, Issue 16, p. 3925
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and... 
DEFECTS | Rett-like | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | CHEMISTRY, MULTIDISCIPLINARY | INTELLECTUAL DISABILITY | MECP2 | WDR45 MUTATIONS | PYRAMIDAL NEURONS | genetics | Rett syndrome | MOUSE MODEL | PATIENT | NGS | DEFICITS | BRAIN
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S61 - S61
Journal Article
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
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, p. e0148709
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 217
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 8
Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this... 
Neurological diseases | Plasma | Nutrient deficiency | Inborn errors of metabolism | Coenzyme Q10 | Mucopolysaccharidosis | High-performance liquid chromatography | Genetic screening
Journal Article