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Items: 1 to 50 of 78

1.

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.

Argente-Escrig H, Sánchez-Monteagudo A, Frasquet M, Millet-Sancho E, Martínez-Rubio MD, Pitarch I, Tomás M, Espinós C, Lupo V, Sevilla T.

J Neurol Sci. 2019 Jul 15;402:156-161. doi: 10.1016/j.jns.2019.05.015. Epub 2019 May 15.

PMID:
31152969
2.

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C.

Hum Mol Genet. 2019 Jan 8. doi: 10.1093/hmg/ddz006. [Epub ahead of print]

PMID:
30624633
3.

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.

Lupo V, Frasquet M, Sánchez-Monteagudo A, Pelayo-Negro AL, García-Sobrino T, Sedano MJ, Pardo J, Misiego M, García-García J, Sobrido MJ, Martínez-Rubio MD, Chumillas MJ, Vílchez JJ, Vázquez-Costa JF, Espinós C, Sevilla T.

J Med Genet. 2018 Dec;55(12):814-823. doi: 10.1136/jmedgenet-2018-105650. Epub 2018 Nov 10.

PMID:
30415211
4.

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Machuca C, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Artero Castro A, Espinos C, Leon M, Jendelova P, Erceg S.

Stem Cell Res. 2018 Dec;33:166-170. doi: 10.1016/j.scr.2018.10.016. Epub 2018 Oct 12.

5.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B.

Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.

PMID:
30340910
6.

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Arellano CM, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Castro AA, Espinos C, Rodriguez ML, Jendelova P, Erceg S.

Stem Cell Res. 2018 Aug;31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27.

7.

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

Frasquet M, Lupo V, Chumillas MJ, Vázquez-Costa JF, Espinós C, Sevilla T.

J Neurol Sci. 2018 Apr 15;387:134-138. doi: 10.1016/j.jns.2018.02.021. Epub 2018 Feb 7.

PMID:
29571850
8.

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C.

Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26.

9.

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.

Calpena E, López Del Amo V, Chakraborty M, Llamusí B, Artero R, Espinós C, Galindo MI.

Dis Model Mech. 2018 Jan 17;11(1). pii: dmm029082. doi: 10.1242/dmm.029082.

10.

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

Sancho P, Sánchez-Monteagudo A, Collado A, Marco-Marín C, Domínguez-González C, Camacho A, Knecht E, Espinós C, Lupo V.

Neurogenetics. 2017 Dec;18(4):245-250. doi: 10.1007/s10048-017-0524-6. Epub 2017 Oct 3.

PMID:
28975462
11.

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B.

Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28.

PMID:
28845923
12.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T.

Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6.

13.

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F, Cuezva JM.

PLoS One. 2017 Jun 2;12(6):e0178376. doi: 10.1371/journal.pone.0178376. eCollection 2017.

14.

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez Garrigues H, Sevilla T.

J Int Adv Otol. 2017 Apr;13(1):93-99. doi: 10.5152/iao.2017.3379.

15.

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

Tello C, Darling A, Lupo V, Pérez-Dueñas B, Espinós C.

Clin Genet. 2018 Apr;93(4):731-740. doi: 10.1111/cge.13057. Epub 2017 Sep 25. Review.

PMID:
28542792
16.

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Pousada G, Lupo V, Cástro-Sánchez S, Álvarez-Satta M, Sánchez-Monteagudo A, Baloira A, Espinós C, Valverde D.

Sci Rep. 2017 May 15;7(1):1923. doi: 10.1038/s41598-017-02074-8.

17.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J.

Neuromuscul Disord. 2017 Jul;27(7):667-672. doi: 10.1016/j.nmd.2017.01.008. Epub 2017 Jan 17.

PMID:
28236508
18.

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.

Tello C, Darling A, Lupo V, Ortez CI, Pérez-Dueñas B, Espinós C.

Clin Genet. 2017 Jul;92(1):117-118. doi: 10.1111/cge.12925. Epub 2017 Feb 1. No abstract available.

PMID:
28150298
19.

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V, Aguado C, Knecht E, Espinós C.

Front Mol Biosci. 2016 Dec 14;3:81. doi: 10.3389/fmolb.2016.00081. eCollection 2016. Review.

20.

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
21.

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C, Sevilla T.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15. No abstract available.

PMID:
27083531
22.

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C.

J Mol Diagn. 2016 Mar;18(2):225-34. doi: 10.1016/j.jmoldx.2015.10.005. Epub 2016 Jan 2.

PMID:
26752306
23.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24.

PMID:
26497905
24.

Biomarkers research in neuromuscular disease Charcot-Marie-Tooth.

Seco-Cervera M, Ibañez-Cabellos JS, Garcia-Gimenez JL, Espinos C, Palau F, Pallardo FV.

Free Radic Biol Med. 2014 Oct;75 Suppl 1:S48-9. doi: 10.1016/j.freeradbiomed.2014.10.814. Epub 2014 Dec 10.

PMID:
26461392
25.

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.

Calpena E, Palau F, Espinós C, Galindo MI.

PLoS One. 2015 Jul 31;10(7):e0134106. doi: 10.1371/journal.pone.0134106. eCollection 2015.

26.

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24.

PMID:
26204789
27.

Molecular diagnosis of coenzyme Q10 deficiency.

Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Review.

PMID:
26144946
28.

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

Lupo V, Pascual-Pascual SI, Sancho P, Calpena E, Gutiérrez-Molina M, Mateo-Martínez G, Espinós C, Arriola-Pereda G.

J Child Neurol. 2015 Oct;30(11):1544-8. doi: 10.1177/0883073815571049. Epub 2015 Feb 18.

PMID:
25694466
29.

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.

30.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Pla-Martín D, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espinós C.

Hum Mol Genet. 2015 Jan 1;24(1):213-29. doi: 10.1093/hmg/ddu440. Epub 2014 Aug 28.

PMID:
25168384
31.

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Calpena E, Deshpande AA, Yap S, Kumar A, Manning NJ, Bachhawat AK, Espinós C.

Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17.

PMID:
25129617
32.

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C.

Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9.

PMID:
24878226
33.

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

Pérez-Garrigues H, Sivera R, Vílchez JJ, Espinós C, Palau F, Sevilla T.

J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):824-7. doi: 10.1136/jnnp-2013-307421. Epub 2014 Mar 10.

PMID:
24614092
34.

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C.

Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27.

35.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.

Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.

PMID:
23890588
36.

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A.

J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18.

PMID:
23774949
37.

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R.

Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2.

PMID:
23553667
38.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

Calpena E, Casado M, Martínez-Rubio D, Nascimento A, Colomer J, Gargallo E, García-Cazorla A, Palau F, Artuch R, Espinós C.

JIMD Rep. 2013;7:123-8. doi: 10.1007/8904_2012_166. Epub 2012 Jul 6.

39.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM.

Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29.

40.

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C.

Clin Genet. 2013 Jun;83(6):565-70. doi: 10.1111/cge.12015. Epub 2012 Oct 10.

PMID:
22978647
41.

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C, Calpena E, Martínez-Rubio D, Lupo V.

Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Review.

PMID:
22411234
42.

Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C.

J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x.

PMID:
22176150
43.

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán JM, Udd B, Vílchez JJ.

Clin Genet. 2012 May;81(5):491-4. doi: 10.1111/j.1399-0004.2011.01667.x. Epub 2011 Apr 11.

PMID:
21395566
44.

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T.

J Peripher Nerv Syst. 2010 Dec;15(4):334-44. doi: 10.1111/j.1529-8027.2010.00286.x.

PMID:
21199105
45.

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R.

Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129.

PMID:
20629161
46.

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.

Espinós C, García-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F, Artuch R.

Clin Genet. 2010 Dec;78(6):554-9. doi: 10.1111/j.1399-0004.2010.01431.x.

PMID:
20584029
47.

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM.

Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10.

48.

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C.

Hum Mol Genet. 2009 Dec 1;18(23):4603-14. doi: 10.1093/hmg/ddp427. Epub 2009 Sep 10.

49.

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R.

J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19.

50.

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies.

Espinós C, Felipo V, Palau F.

Adv Exp Med Biol. 2009;652:v-vi. No abstract available.

PMID:
20235380

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