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Items: 1 to 50 of 194

1.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Gonzalez-Quereda L, Gallardo E, Töpf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J.

Neuromuscul Disord. 2018 Jul 12. pii: S0960-8966(18)30212-8. doi: 10.1016/j.nmd.2018.06.002. [Epub ahead of print]

PMID:
30007747
2.

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy.

Piñol-Jurado P, Suárez-Calvet X, Fernández-Simón E, Gallardo E, de la Oliva N, Martínez-Muriana A, Gómez-Gálvez P, Escudero LM, Pérez-Peiró M, Wollin L, de Luna N, Navarro X, Illa I, Díaz-Manera J.

Cell Death Dis. 2018 Jul 10;9(7):776. doi: 10.1038/s41419-018-0792-6.

3.

The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.

Cortés-Vicente E, Rojas-Garcia R, Díaz-Manera J, Querol L, Casasnovas C, Guerrero-Sola A, Muñoz-Blanco JL, Bárcena-Llona JE, Márquez-Infante C, Pardo J, Martínez-Fernández EM, Usón M, Oliva-Nacarino P, Sevilla T, Illa I.

Ann Clin Transl Neurol. 2018 Apr 14;5(6):710-716. doi: 10.1002/acn3.564. eCollection 2018 Jun.

4.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

Cortés-Vicente E, Turon-Sans J, Gelpi E, Clarimón J, Borrego-Écija S, Dols-Icardo O, Illán-Gala I, Lleó A, Illa I, Blesa R, Al-Chalabi A, Rojas-García R.

Dement Geriatr Cogn Disord. 2018;45(3-4):220-231. doi: 10.1159/000488528. Epub 2018 Jun 8.

PMID:
29886477
5.

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

Siles AM, Martínez-Hernández E, Araque J, Diaz-Manera J, Rojas-Garcia R, Gallardo E, Illa I, Graus F, Querol L.

Ann Clin Transl Neurol. 2018 Mar 26;5(5):559-569. doi: 10.1002/acn3.554. eCollection 2018 May.

6.

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.

Ladislau L, Suárez-Calvet X, Toquet S, Landon-Cardinal O, Amelin D, Depp M, Rodero MP, Hathazi D, Duffy D, Bondet V, Preusse C, Bienvenu B, Rozenberg F, Roos A, Benjamim CF, Gallardo E, Illa I, Mouly V, Stenzel W, Butler-Browne G, Benveniste O, Allenbach Y.

Brain. 2018 Jun 1;141(6):1609-1621. doi: 10.1093/brain/awy105.

PMID:
29741608
7.

Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.

Painous C, López-Pérez MÁ, Illa I, Querol L.

Ann Clin Transl Neurol. 2018 Mar 7;5(4):499-501. doi: 10.1002/acn3.539. eCollection 2018 Apr.

8.

Mcleod syndrome is a new cause of axial muscle weakness.

Díaz-Manera J, Sotoca-Fernández J, Alonso-Jiménez A, Marzo ME, Gallardo E, Segovia-Simón S, Siles AM, Illa I, Pagonabarraga J.

Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26086. [Epub ahead of print] No abstract available.

PMID:
29381810
9.

Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.

Martinez-Martinez L, Lleixà MC, Boera-Carnicero G, Cortese A, Devaux J, Siles A, Rajabally Y, Martinez-Piñeiro A, Carvajal A, Pardo J, Delmont E, Attarian S, Diaz-Manera J, Callegari I, Marchioni E, Franciotta D, Benedetti L, Lauria G, de la Calle Martin O, Juárez C, Illa I, Querol L.

J Neuroinflammation. 2017 Nov 16;14(1):224. doi: 10.1186/s12974-017-0996-1.

10.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy.

Querol L, Siles AM, Alba-Rovira R, Jáuregui A, Devaux J, Faivre-Sarrailh C, Araque J, Rojas-Garcia R, Diaz-Manera J, Cortés-Vicente E, Nogales-Gadea G, Navas-Madroñal M, Gallardo E, Illa I.

Sci Rep. 2017 Oct 31;7(1):14411. doi: 10.1038/s41598-017-14853-4.

11.

Diagnostic utility of cortactin antibodies in myasthenia gravis.

Illa I, Cortés-Vicente E, Martínez MÁ, Gallardo E.

Ann N Y Acad Sci. 2018 Jan;1412(1):90-94. doi: 10.1111/nyas.13502. Epub 2017 Oct 25. Review.

PMID:
29068555
12.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang JJ, Mantegazza R; REGAIN Study Group.

Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.

PMID:
29066163
13.

ARTHUR ASBURY LECTURE: Chronic inflammatory demyelinating polyradiculoneuropathy: clinical aspects and new animal models of auto-immunity to nodal components.

Illa I.

J Peripher Nerv Syst. 2017 Dec;22(4):418-424. doi: 10.1111/jns.12237. Epub 2017 Nov 15. Review.

PMID:
29065233
14.

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

De Luna N, Suárez-Calvet X, Lleixà C, Diaz-Manera J, Olivé M, Illa I, Gallardo E.

Sci Rep. 2017 Aug 17;7(1):8595. doi: 10.1038/s41598-017-09309-8.

15.

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.

16.

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.

Suárez-Calvet X, Gallardo E, Pinal-Fernandez I, De Luna N, Lleixà C, Díaz-Manera J, Rojas-García R, Castellví I, Martínez MA, Grau JM, Selva-O'Callaghan A, Illa I.

Arthritis Res Ther. 2017 Jul 24;19(1):174. doi: 10.1186/s13075-017-1383-0.

17.

Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.

Querol L, Devaux J, Rojas-Garcia R, Illa I.

Nat Rev Neurol. 2017 Sep;13(9):533-547. doi: 10.1038/nrneurol.2017.84. Epub 2017 Jul 14. Review.

PMID:
28708133
18.

Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy.

Piñol-Jurado P, Gallardo E, de Luna N, Suárez-Calvet X, Sánchez-Riera C, Fernández-Simón E, Gomis C, Illa I, Díaz-Manera J.

Am J Pathol. 2017 Aug;187(8):1814-1827. doi: 10.1016/j.ajpath.2017.04.011. Epub 2017 Jun 12. Erratum in: Am J Pathol. 2018 Feb;188(2):539.

PMID:
28618254
19.

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.

Delmont E, Manso C, Querol L, Cortese A, Berardinelli A, Lozza A, Belghazi M, Malissart P, Labauge P, Taieb G, Yuki N, Illa I, Attarian S, Devaux JJ.

Brain. 2017 Jul 1;140(7):1851-1858. doi: 10.1093/brain/awx124.

PMID:
28575198
20.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

Cortés-Vicente E, Pradas J, Marín-Lahoz J, De Luna N, Clarimón J, Turon-Sans J, Gelpí E, Díaz-Manera J, Illa I, Rojas-Garcia R.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):333-340. doi: 10.1080/21678421.2017.1316408. Epub 2017 Apr 25.

PMID:
28440098
21.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelièvre A, Gartioux C, Allamand V, Piñol P, Garcia MA, Jiménez-Mallebriera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I, Díaz-Manera J.

J Neuromuscul Dis. 2016 May 27;3(2):267-274.

PMID:
27854213
22.

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group.

PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016.

23.

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

Cortés-Vicente E, Gallardo E, Martínez MÁ, Díaz-Manera J, Querol L, Rojas-García R, Illa I.

JAMA Neurol. 2016 Sep 1;73(9):1099-104. doi: 10.1001/jamaneurol.2016.2032.

PMID:
27379450
24.

International consensus guidance for management of myasthenia gravis: Executive summary.

Sanders DB, Wolfe GI, Benatar M, Evoli A, Gilhus NE, Illa I, Kuntz N, Massey JM, Melms A, Murai H, Nicolle M, Palace J, Richman DP, Verschuuren J, Narayanaswami P.

Neurology. 2016 Jul 26;87(4):419-25. doi: 10.1212/WNL.0000000000002790. Epub 2016 Jun 29. Review.

25.

Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.

Aragones JM, Altimiras J, Roura-Poch P, Homs E, Bajo L, Povedano M, Cortés-Vicente E, Illa I, Al-Chalabi A, Rojas-García R.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):522-527. Epub 2016 May 25.

PMID:
27224687
26.

Muscle MRI in muscular dystrophies.

Díaz-Manera J, Llauger J, Gallardo E, Illa I.

Acta Myol. 2015 Dec;34(2-3):95-108.

27.

Contactin-1 IgG4 antibodies cause paranode dismantling and conduction defects.

Manso C, Querol L, Mekaouche M, Illa I, Devaux JJ.

Brain. 2016 Jun;139(Pt 6):1700-12. doi: 10.1093/brain/aww062. Epub 2016 Mar 26.

PMID:
27017186
28.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Huijbers MG, Vink AF, Niks EH, Westhuis RH, van Zwet EW, de Meel RH, Rojas-García R, Díaz-Manera J, Kuks JB, Klooster R, Straasheijm K, Evoli A, Illa I, van der Maarel SM, Verschuuren JJ.

J Neuroimmunol. 2016 Feb 15;291:82-8. doi: 10.1016/j.jneuroim.2015.12.016. Epub 2016 Jan 5.

PMID:
26857500
29.

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Cruz S, Cortes-Vicente E, Illa I, Rojas-Garcia R.

Amyloid. 2016;23(1):64-5. doi: 10.3109/13506129.2015.1127223. Epub 2016 Jan 23. No abstract available.

PMID:
26806028
30.

Comment to "Role of Toll-like receptors and retinoic acid inducible gene I in endogenous production of type I interferon in dermatomyositis".

Suárez-Calvet X, Gallardo E, Illa I.

J Neuroimmunol. 2016 Feb 15;291:125. doi: 10.1016/j.jneuroim.2015.12.008. Epub 2015 Dec 18. No abstract available.

PMID:
26723487
31.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I.

Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22.

PMID:
26573435
32.

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.

Querol L, Rojas-García R, Diaz-Manera J, Barcena J, Pardo J, Ortega-Moreno A, Sedano MJ, Seró-Ballesteros L, Carvajal A, Ortiz N, Gallardo E, Illa I.

Neurol Neuroimmunol Neuroinflamm. 2015 Sep 3;2(5):e149. doi: 10.1212/NXI.0000000000000149. eCollection 2015 Oct.

33.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M.

Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.

34.

Paranodal and other autoantibodies in chronic inflammatory neuropathies.

Querol L, Illa I.

Curr Opin Neurol. 2015 Oct;28(5):474-9. doi: 10.1097/WCO.0000000000000233. Review.

PMID:
26263474
35.

The expanding field of IgG4-mediated neurological autoimmune disorders.

Huijbers MG, Querol LA, Niks EH, Plomp JJ, van der Maarel SM, Graus F, Dalmau J, Illa I, Verschuuren JJ.

Eur J Neurol. 2015 Aug;22(8):1151-61. doi: 10.1111/ene.12758. Epub 2015 May 29. Review.

PMID:
26032110
36.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23.

PMID:
25998610
37.

Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry.

Ramos-Fransi A, Rojas-García R, Segovia S, Márquez-Infante C, Pardo J, Coll-Cantí J, Jericó I, Illa I; Myasthenia NMD-ES Study Group.

Eur J Neurol. 2015 Jul;22(7):1056-61. doi: 10.1111/ene.12703. Epub 2015 Apr 6.

PMID:
25847221
38.

[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)].

Gutiérrez-Rivas E, Illa I, Pascual-Pascual SI, Pérez-López J, Vílchez-Padilla JJ, Bautista-Lorite J, Barrot E, López de Munain A; Sociedad Española de Medicina Interna; Sociedad Española de Neurología; Sociedad Española de Neumología y CirugíaTorácica.

Rev Neurol. 2015 Apr 1;60(7):321-8. Spanish.

39.

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

J Neuromuscul Dis. 2015;2(s1):S42. No abstract available.

PMID:
27858636
40.

Prevalence of myasthenia gravis in the Catalan county of Osona.

Aragonès JM, Altimiras J, Roura P, Alonso F, Bufill E, Munmany A, Alfonso S, Illa I.

Neurologia. 2017 Jan - Feb;32(1):1-5. doi: 10.1016/j.nrl.2014.09.007. Epub 2014 Nov 11. English, Spanish.

41.

Cortactin autoantibodies in myasthenia gravis.

Gallardo E, Martínez-Hernández E, Titulaer MJ, Huijbers MG, Martínez MA, Ramos A, Querol L, Díaz-Manera J, Rojas-García R, Hayworth CR, Verschuuren JJ, Balice-Gordon R, Dalmau J, Illa I.

Autoimmun Rev. 2014 Oct;13(10):1003-7. doi: 10.1016/j.autrev.2014.08.039. Epub 2014 Sep 3.

PMID:
25193850
42.

Myasthenia gravis: a disease of the very old.

Aragonès JM, Roura-Poch P, Hernández-Ocampo EM, Alonso F, Pont-Lluelles M, Xandri I, Bolíbar I, Illa I.

J Am Geriatr Soc. 2014 Jan;62(1):196-7. No abstract available.

PMID:
25180387
43.

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

Díaz-Manera J, Querol L, Alejaldre A, Rojas-García R, Ramos-Fransi A, Gallardo E, Illa I.

J Hum Genet. 2014 Aug;59(8):465-6. doi: 10.1038/jhg.2014.43. Epub 2014 May 22. Erratum in: J Hum Genet. 2014 Aug;59(8):477.

PMID:
24849934
44.

Genetic and epigenetic determinants of low dysferlin expression in monocytes.

Gallardo E, Ankala A, Núñez-Álvarez Y, Hegde M, Diaz-Manera J, Luna ND, Pastoret A, Suelves M, Illa I.

Hum Mutat. 2014 Aug;35(8):990-7. doi: 10.1002/humu.22591. Epub 2014 Jun 24.

PMID:
24838345
45.

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

Díaz-Manera J, Alejaldre A, Llauger J, Mirabet S, Rojas-García R, Ramos-Fransi A, Gallardo E, Illa I.

Eur J Neurol. 2014 Jun;21(6):e51-2. doi: 10.1111/ene.12416. No abstract available.

PMID:
24805292
46.

Analysis of serum miRNA profiles of myasthenia gravis patients.

Nogales-Gadea G, Ramos-Fransi A, Suárez-Calvet X, Navas M, Rojas-García R, Mosquera JL, Díaz-Manera J, Querol L, Gallardo E, Illa I.

PLoS One. 2014 Mar 17;9(3):e91927. doi: 10.1371/journal.pone.0091927. eCollection 2014.

47.

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

Suárez-Calvet X, Gallardo E, Nogales-Gadea G, Querol L, Navas M, Díaz-Manera J, Rojas-Garcia R, Illa I.

J Pathol. 2014 Jul;233(3):258-68. doi: 10.1002/path.4346. Epub 2014 Apr 29.

PMID:
24604766
48.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.

Querol L, Nogales-Gadea G, Rojas-Garcia R, Diaz-Manera J, Pardo J, Ortega-Moreno A, Sedano MJ, Gallardo E, Berciano J, Blesa R, Dalmau J, Illa I.

Neurology. 2014 Mar 11;82(10):879-86. doi: 10.1212/WNL.0000000000000205. Epub 2014 Feb 12.

49.

Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.

Labasque M, Hivert B, Nogales-Gadea G, Querol L, Illa I, Faivre-Sarrailh C.

J Biol Chem. 2014 Mar 14;289(11):7907-18. doi: 10.1074/jbc.M113.528489. Epub 2014 Feb 4.

50.

Atypical phenotypes in titinopathies explained by second titin mutations.

Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B.

Ann Neurol. 2014 Feb;75(2):230-40. doi: 10.1002/ana.24102. Epub 2014 Feb 24.

PMID:
24395473

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