Cecilia Jimenez-Mallebrera
Cecilia Jimenez-Mallebrera
Hospital Sant Joan de Deu Barcelona
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
C Longman, M Brockington, S Torelli, C Jimenez-Mallebrera, C Kennedy, ...
Human molecular genetics 12 (21), 2853-2861, 2003
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ...
Brain 130 (10), 2725-2735, 2007
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ...
The American Journal of Human Genetics 88 (2), 162-172, 2011
Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy
C Godfrey, D Escolar, M Brockington, EM Clement, R Mein, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
Natural history of Ullrich congenital muscular dystrophy
A Nadeau, M Kinali, M Main, C Jimenez-Mallebrera, A Aloysius, ...
Neurology 73 (1), 25-31, 2009
GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction
R Montero, D Yubero, J Villarroya, D Henares, C Jou, MA Rodríguez, ...
PloS one 11 (2), e0148709, 2016
An international classification of inherited metabolic disorders (ICIMD)
CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ...
Journal of inherited metabolic disease 44 (1), 164-177, 2021
Congenital myasthenic syndromes in childhood: diagnostic and management challenges
M Kinali, D Beeson, MC Pitt, H Jungbluth, AK Simonds, A Aloysius, ...
Journal of neuroimmunology 201, 6-12, 2008
Congenital muscular dystrophy: molecular and cellular aspects
C Jimenez-Mallebrera, SC Brown, CA Sewry, F Muntoni
Cellular and Molecular Life Sciences CMLS 62, 809-823, 2005
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a …
SG Kalko, S Paco, C Jou, MA Rodríguez, M Meznaric, M Rogac, ...
BMC genomics 15, 1-22, 2014
A comparative study of α‐dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of α‐dystroglycan does not consistently correlate with clinical …
C Jimenez‐Mallebrera, S Torelli, L Feng, J Kim, C Godfrey, E Clement, ...
Brain Pathology 19 (4), 596-611, 2009
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
C Jimenez-Mallebrera, MA Maioli, J Kim, SC Brown, L Feng, AK Lampe, ...
Neuromuscular Disorders 16 (9-10), 571-582, 2006
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
EM Clement, C Godfrey, J Tan, M Brockington, S Torelli, L Feng, ...
Archives of Neurology 65 (1), 137-141, 2008
Deoxynucleoside therapy for thymidine kinase 2–deficient myopathy
C Domínguez‐González, M Madruga‐Garrido, F Mavillard, C Garone, ...
Annals of neurology 86 (2), 293-303, 2019
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
V Guergueltcheva, JS Müller, M Dusl, J Senderek, A Oldfors, C Lindbergh, ...
Journal of neurology 259, 838-850, 2012
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
AK Lampe, Y Zou, D Sudano, KK O'brien, D Hicks, SH Laval, R Charlton, ...
Human mutation 29 (6), 809-822, 2008
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype
E Mercuri, C Cini, A Pichiecchio, J Allsop, S Counsell, Z Zolkipli, ...
Neuromuscular disorders 13 (7-8), 554-558, 2003
Congenital myopathies
CA Sewry, C Jimenez-Mallebrera, F Muntoni
Current opinion in neurology 21 (5), 569-575, 2008
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
D Yubero, R Montero, MA Martín, J Montoya, A Ribes, M Grazina, ...
Mitochondrion 30, 51-58, 2016
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
K Thompson, N Mai, M Oláhová, F Scialó, LE Formosa, DA Stroud, ...
EMBO Molecular Medicine 10 (11), e9060, 2018
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