Publicacions
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Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner-Rubies F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez-Gonzalez CI, Nascimento-Osorio A, Colomer J and Jimenez-Mallebrera C.
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
PLoS One . 8(10): . Nº de cites: 21
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Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.
Coenzyme Q(10) deficiency in mitochondrial DNA depletion syndromes
Mitochondrion . 13(4): 337-341. Nº de cites: 46
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Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou-Munoz C, Nascimento-Osorio A, Jimenez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M and Gallano P.
Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
PLoS One . 8(3): 59916. Nº de cites: 40
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Juan-Mateu J, Rodríguez MJ, Nascimento-Osorio A, Jimenez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou-Munoz C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M and Gallano P.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
ORPHANET JOURNAL OF RARE DISEASES . 7: 82-82. Nº de cites: 42
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Paco-Mercader S, Ferrer I, Jou-Munoz C, Cusi V, Corbera J, Torner-Rubies F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento-Osorio A and Jimenez-Mallebrera C.
Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Nº de cites: 23
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Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A and Lochmüller H.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
JOURNAL OF NEUROLOGY . 259(5): 838-850. Nº de cites: 67
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Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.
Perfil de expresión génica en la distrofia muscular congénita de Ullrich
REVISTA DE NEUROLOGIA . 2012(27): 155-312.
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Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA and Muntoni F.
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
NEUROMUSCULAR DISORDERS . 22(2): 139-148. Nº de cites: 21
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Mormeneo E, Jimenez-Mallebrera C, Palomer X, De Nigris V, Vázquez-Carrera M, Orozco A, Nascimento-Osorio A, Colomer J, Lerin C and Gómez-Foix AM.
PGC-1a Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells
PLoS One . 7(1): . Nº de cites: 53
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Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A and Lochmüller H.
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
AMERICAN JOURNAL OF HUMAN GENETICS . 88(2): 162-172. Nº de cites: 122