المؤلفون: Quijano-Roy, Susana^1,2 susana.quijano-roy@rpc.aphp.fr, Martí-Carrera, Itxaso¹, Makri, Samira³, Mayer, Michèle⁴, Maugenre, Svetlana², Richard, Pascale^2,5, Berard, Carole⁶, Viollet, Louis¹, Leheup, Bruno⁷, Guicheney, Pascale², Pinard, Jean-Marc¹, Estournet, Brigitte¹, Y. Carlier, Robert⁸

المصدر: Brain & Development. May2006, Vol. 28 Issue 4, p232-242. 11p.

مصطلحات موضوعية: *MAGNETIC resonance imaging, *FRONTAL lobe, *INTELLECTUAL disabilities, *MEDICAL imaging systems

المؤلفون: Muñoz-Oreja, Mikel^1,2,3 (AUTHOR), Sandoval, Abigail⁴ (AUTHOR), Bruland, Ove⁵ (AUTHOR), Perez-Rodriguez, Diego⁶ (AUTHOR), Fernandez-Pelayo, Uxoa¹ (AUTHOR), Arbina, Amaia Lopez de¹ (AUTHOR), Villar-Fernandez, Marina¹ (AUTHOR), Hernández-Eguiazu, Haizea¹ (AUTHOR), Hernández, Ixiar² (AUTHOR), Park, Yohan⁴ (AUTHOR), Goicoechea, Leire^7,8,9 (AUTHOR), Pascual-Frías, Nerea^1,10 (AUTHOR), Garcia-Ruiz, Carmen^7,8,9 (AUTHOR), Fernandez-Checa, Jose^7,8,9,11 (AUTHOR), Martí-Carrera, Itxaso^1,2,3,12 (AUTHOR), Gil-Bea, Francisco Javier¹ (AUTHOR), Hasan, Mazahir T^13,14 (AUTHOR), Gegg, Matthew E⁶ (AUTHOR), Bredrup, Cecilie^15,16 (AUTHOR), Knappskog, Per-Morten¹⁷ (AUTHOR)

المصدر: Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1899-1913. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CHOLESTEROL, *CHOLESTEROL metabolism, *CELL membranes, *GLYCOGEN storage disease type II

المؤلفون: Martínez-Rubio, Dolores^1,2 (AUTHOR), Hinarejos, Isabel^1,2 (AUTHOR), Argente-Escrig, Herminia³ (AUTHOR), Marco-Marín, Clara^4,5 (AUTHOR), Lozano, María Ana¹ (AUTHOR), Gorría-Redondo, Nerea⁶ (AUTHOR), Lupo, Vincenzo¹ (AUTHOR), Martí-Carrera, Itxaso⁷ (AUTHOR), Miranda, Concepción⁸ (AUTHOR), Vázquez-López, María⁸ (AUTHOR), García-Pérez, Asunción⁹ (AUTHOR), Marco-Hernández, Ana Victoria¹⁰ (AUTHOR), Tomás-Vila, Miguel¹¹ (AUTHOR), Aguilera-Albesa, Sergio⁶ (AUTHOR), Espinós, Carmen^1,2,5,12 (AUTHOR) cespinos@cipf.es

المصدر: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16400. 20p.

مصطلحات موضوعية: *PEDIATRIC neurology, *PHENOTYPES, *CEREBELLAR ataxia, *ATROPHY, *PROTEIN expression

المؤلفون: Domínguez‐Carral, Jana¹ (AUTHOR), Ludlam, William Grant² (AUTHOR), Junyent Segarra, Mar³ (AUTHOR), Fornaguera Marti, Montserrat³ (AUTHOR), Balsells, Sol⁴ (AUTHOR), Muchart, Jordi⁵ (AUTHOR), Čokolić Petrović, Dunja⁶ (AUTHOR), Espinoza, Iván⁷ (AUTHOR), Ortigoza‐Escobar, Juan Dario^8,9,10 (AUTHOR) juandario.ortigoza@sjd.es, Martemyanov, Kirill A.² (AUTHOR) kmartemyanov@ufl.edu, Armstrong, Judith (AUTHOR), Blanco‐Lago, Raquel (AUTHOR), Bou, Rosa (AUTHOR), Cáceres‐Marzal, Cristina (AUTHOR), Cancho‐Candela, Ramón (AUTHOR), Candela, Santiago (AUTHOR), Darling, Alejandra (AUTHOR), De Los Santos, Mariela Mercedes (AUTHOR), García‐Cazorla, Angels (AUTHOR), Martí‐Carrera, Itxaso (AUTHOR)

المصدر: Annals of Neurology. Nov2023, Vol. 94 Issue 5, p987-1004. 18p.

مصطلحات موضوعية: *EPILEPSY, *MOLECULAR pathology, *MAGNETIC resonance imaging, *MOVEMENT disorders, *MISSENSE mutation, *DEVELOPMENTAL delay

المؤلفون: Piniella, Dolores^1,2 (AUTHOR), Canseco, Ania¹ (AUTHOR), Vidal, Silvia^3,4 (AUTHOR), Xiol, Clara^3,4 (AUTHOR), Díaz de Bustamante, Aránzazu⁵ (AUTHOR), Martí-Carrera, Itxaso⁶ (AUTHOR), Armstrong, Judith^4,7,8 (AUTHOR), Bastolla, Ugo¹ (AUTHOR), Zafra, Francisco^1,2 (AUTHOR) francisco.zafra@uam.es

المصدر: International Journal of Molecular Sciences. Jan2023, Vol. 24 Issue 2, p955. 26p.

مصطلحات موضوعية: *GABA transporters, *PROTEIN folding, *ENDOPLASMIC reticulum, *ACTIVITY-based costing

المؤلفون: Martínez-Rubio, Dolores^1,2 (AUTHOR), Hinarejos, Isabel^1,2 (AUTHOR), Sancho, Paula¹ (AUTHOR), Gorría-Redondo, Nerea³ (AUTHOR), Bernadó-Fonz, Raquel³ (AUTHOR), Tello, Cristina¹ (AUTHOR), Marco-Marín, Clara⁴ (AUTHOR), Martí-Carrera, Itxaso⁵ (AUTHOR), Martínez-González, María Jesús⁶ (AUTHOR), García-Ribes, Ainhoa⁶ (AUTHOR), Baviera-Muñoz, Raquel^2,7,8 (AUTHOR), Sastre-Bataller, Isabel^2,8 (AUTHOR), Martínez-Torres, Irene^2,8 (AUTHOR), Duat-Rodríguez, Anna⁹ (AUTHOR), Janeiro, Patrícia¹⁰ (AUTHOR), Moreno, Esther¹¹ (AUTHOR), Pías-Peleteiro, Leticia¹² (AUTHOR), Gordo, Mar O'Callaghan¹² (AUTHOR), Ruiz-Gómez, Ángeles¹³ (AUTHOR), Muñoz, Esteban¹⁴ (AUTHOR)

المصدر: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11847. 26p.

مصطلحات موضوعية: *MOVEMENT disorders, *PHENOTYPES, *IRON ores, *ROMANIES, *IRON, *GENETIC mutation, *CARDIAC amyloidosis