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Items: 44

1.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW.

EMBO Mol Med. 2018 Sep 10. pii: e9060. doi: 10.15252/emmm.201809060. [Epub ahead of print]

2.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Rodríguez MA, Del Rio Barquero LM, Ortez CI, Jou C, Vigo M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive M, González-Mera L, Nascimento A, Jimenez-Mallebrera C.

Front Aging Neurosci. 2017 Aug 8;9:268. doi: 10.3389/fnagi.2017.00268. eCollection 2017.

3.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Yubero D, Adin A, Montero R, Jou C, Jiménez-Mallebrera C, García-Cazorla A, Nascimento A, O'Callaghan MM, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD, Artuch R.

Sci Rep. 2016 Dec 5;6(1):15. doi: 10.1038/s41598-016-0008-1.

4.

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML.

Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11.

PMID:
28040389
5.

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy.

Llano-Diez M, Ortez CI, Gay JA, Álvarez-Cabado L, Jou C, Medina J, Nascimento A, Jimenez-Mallebrera C.

Neuromuscul Disord. 2017 Jan;27(1):15-23. doi: 10.1016/j.nmd.2016.11.003. Epub 2016 Nov 11.

PMID:
27979502
6.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
7.

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism.

De Paepe B, Martin JJ, Herbelet S, Jimenez-Mallebrera C, Iglesias E, Jou C, Weis J, De Bleecker JL.

Lab Invest. 2016 Aug;96(8):872-84. doi: 10.1038/labinvest.2016.68. Epub 2016 Jun 20.

8.

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C.

PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016. Erratum in: PLoS One. 2016;11(5):e0155172.

9.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.

J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.

PMID:
26754003
10.

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.

Paco S, Casserras T, Rodríguez MA, Jou C, Puigdelloses M, Ortez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento A, Kalko SG, Jimenez-Mallebrera C.

PLoS One. 2015 Dec 15;10(12):e0145107. doi: 10.1371/journal.pone.0145107. eCollection 2015.

11.

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Jul 28;6:254. doi: 10.3389/fgene.2015.00254. eCollection 2015.

12.

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.

Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C.

PLoS One. 2015 May 14;10(5):e0128614. doi: 10.1371/journal.pone.0128614. eCollection 2015. No abstract available.

13.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Mar 23;6:102. doi: 10.3389/fgene.2015.00102. eCollection 2015. Erratum in: Front Genet. 2015;6:254.

14.

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez-Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R.

Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10.

PMID:
25765153
15.

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R.

BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5.

16.

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 potential novel biomarker for mitochondrial myopathies.

Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch R, Montero R, Torner F, Nascimento A, Ortez C, Colomer J, Jimenez-Mallebrera C.

BMC Genomics. 2014 Feb 1;15:91. doi: 10.1186/1471-2164-15-91.

17.

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C.

PLoS One. 2013 Oct 11;8(10):e77430. doi: 10.1371/journal.pone.0077430. eCollection 2013. Erratum in: PLoS One. 2015;10(5):e0128614.

18.

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P.

PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25.

19.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou 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, Gallano P.

Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82.

20.

Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C.

J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906.

PMID:
22975586
21.

PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells.

Mormeneo E, Jimenez-Mallebrera C, Palomer X, De Nigris V, Vázquez-Carrera M, Orozco A, Nascimento A, Colomer J, Lerín C, Gómez-Foix AM.

PLoS One. 2012;7(1):e29985. doi: 10.1371/journal.pone.0029985. Epub 2012 Jan 17.

22.

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.

Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA, Muntoni F.

Neuromuscul Disord. 2012 Feb;22(2):139-48. doi: 10.1016/j.nmd.2011.08.006. Epub 2011 Nov 8.

23.

Natural history of Ullrich congenital muscular dystrophy.

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

Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851.

PMID:
19564581
24.

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.

Jimenez-Mallebrera C, Nascimento A, Cusi V, Corbera JR, Rolland MO, Froissart R, Olivé M, Ferrer I, Colomer J.

Histopathology. 2009 May;54(6):765-8. doi: 10.1111/j.1365-2559.2009.03281.x. No abstract available.

PMID:
19438752
25.

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

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

Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16.

PMID:
19015158
26.

Congenital myopathies.

Sewry CA, Jimenez-Mallebrera C, Muntoni F.

Curr Opin Neurol. 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7. Review.

PMID:
18769251
27.

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA.

J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.

PMID:
18707767
28.

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

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

Brain Pathol. 2009 Oct;19(4):596-611. doi: 10.1111/j.1750-3639.2008.00198.x. Epub 2008 Aug 7.

29.

Muscular dystrophies due to defective glycosylation of dystroglycan.

Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.

Acta Myol. 2007 Dec;26(3):129-35. Review.

30.

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.

Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.

PMID:
18366090
31.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F.

Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2.

PMID:
18195152
32.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PMID:
17878207
33.

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.

Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F.

Neuromuscul Disord. 2007 Feb;17(2):174-9. Epub 2007 Jan 22.

PMID:
17236770
34.

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-10.

PMID:
17044012
35.

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.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F.

Neuromuscul Disord. 2006 Oct;16(9-10):571-82. Epub 2006 Aug 28.

PMID:
16935502
36.

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FM.

Neuromuscul Disord. 2005 Oct;15(9-10):588-94.

PMID:
16084089
37.

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML.

Hum Genet. 2005 Sep;117(5):460-6. Epub 2005 Jun 17.

PMID:
16075202
38.

Congenital muscular dystrophy: molecular and cellular aspects.

Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F.

Cell Mol Life Sci. 2005 Apr;62(7-8):809-23. Review.

PMID:
15868406
39.

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA.

Neuropathol Appl Neurobiol. 2004 Oct;30(5):540-5.

PMID:
15488030
40.

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F.

Arch Neurol. 2004 Aug;61(8):1301-6.

PMID:
15313851
41.

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.

Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F.

Prenat Diagn. 2004 Jun;24(6):440-4.

PMID:
15229843
42.

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.

Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.

PMID:
12966029
43.

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Jiménez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D, Muntoni F.

Eur J Paediatr Neurol. 2003;7(3):129-37.

PMID:
12788039
44.

A study of short utrophin isoforms in mice deficient for full-length utrophin.

Jimenez-Mallebrera C, Davies K, Putt W, Edwards YH.

Mamm Genome. 2003 Jan;14(1):47-60. Erratum in: Mamm Genome. 2003 May;14(5):357.

PMID:
12532267

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