Publications
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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. Number of citations: 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. Number of citations: 70
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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. Number of citations: 22
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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): . Number of citations: 55
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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. Number of citations: 129
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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 . 19(4): 596-611. Number of citations: 95
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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 . 73(1): 25-31. Number of citations: 113
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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 . 132: 147-155. Number of citations: 39
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Sewry, CA, Jimenez-Mallebrera C and Muntoni, F.
Congenital myopathies
CURRENT OPINION IN NEUROLOGY . 21(5): 569-575. Number of citations: 51