Cecilia Jiménez Mallebrera

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 2012. 71(10): 894-906. Nº de cites: 23

[doi:10.1097/NEN.0b013e31826c6f7b]

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 2012. 259(5): 838-850. Nº de cites: 70

[doi:10.1007/s00415-011-6262-z]

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. 2012(27): 155-312.

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 2012. 22(2): 139-148. Nº de cites: 22

[doi:10.1016/j.nmd.2011.08.006]

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 2012. 7(1): . Nº de cites: 55

[doi:10.1371/journal.pone.0029985]

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 2011. 88(2): 162-172. Nº de cites: 129

[doi:10.1016/j.ajhg.2011.01.008]

Jimenez-Mallebrera C, Torelli, S, Feng, L, Kim, J, Godfrey, C, Clement, E, Mein, R, Abbs, S, Brown, SC, Campbell, KP, Kroger, S., Talim, B, Topaloglu, H, Quinlivan, R, Roper, H, Childs, AM, Kinali, M, Sewry, CA and Muntoni, F.

A Comparative Study of a-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of a-Dystroglycan Does Not Consistently Correlate with Clinical Severity

BRAIN PATHOLOGY 2009. 19(4): 596-611. Nº de cites: 95

[doi:10.1111/j.1750-3639.2008.00198.x]

Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E and Muntoni F.

Natural history of Ullrich congenital muscular dystrophy

Neurology 2009. 73(1): 25-31. Nº de cites: 113

[doi:10.1212/WNL.0b013e3181aae851]

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H and Bushby KM.

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

BRAIN 2009. 132: 147-155. Nº de cites: 39

[doi:10.1093/brain/awn289]

Sewry, CA, Jimenez-Mallebrera C and Muntoni, F.

Congenital myopathies

CURRENT OPINION IN NEUROLOGY 2008. 21(5): 569-575. Nº de cites: 51

[doi:10.1097/WCO.0b013e32830f93c7]