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International Journal of Molecular Sciences, ISSN 1661-6596, 02/2018, Volume 19, Issue 2, p. 619
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2017, Volume 40, Issue 5, pp. 753 - 754
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0056-0 (6)... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Medicine, Experimental | Medical research | Medical colleges | Children | Analysis | Diseases | Atrophy | Cerebellum | Phosphomannomutase
Journal Article
Journal Article
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 10/2015, Volume 10, Issue 1, p. 138
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
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
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Annals of Neurology, ISSN 0364-5134, 05/2019, Volume 85, Issue 5, pp. 740 - 751
Journal Article