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Items: 44

1.

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group, Díaz-Manera J, Gallardo E.

Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12.

2.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T.

Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.

3.

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum.

Illán-Gala I, Alcolea D, Montal V, Dols-Icardo O, Muñoz L, de Luna N, Turón-Sans J, Cortés-Vicente E, Sánchez-Saudinós MB, Subirana A, Sala I, Blesa R, Clarimón J, Fortea J, Rojas-García R, Lleó A.

Neurology. 2018 Oct 23;91(17):e1619-e1628. doi: 10.1212/WNL.0000000000006383. Epub 2018 Oct 5.

PMID:
30291183
4.

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases.

De Luna N, Suarez-Calvet X, Garicano M, Fernandez-Simon E, Rojas-García R, Diaz-Manera J, Querol L, Illa I, Gallardo E.

J Neuropathol Exp Neurol. 2018 Oct 1;77(10):964-972. doi: 10.1093/jnen/nly078.

PMID:
30184235
5.

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.

6.

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti LA, Verriello GD, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Apr;28(4):374-375. doi: 10.1016/j.nmd.2018.01.011. Epub 2018 Jan 31. No abstract available.

PMID:
29482911
7.

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31.

PMID:
29174468
8.

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.

Dols-Icardo O, García-Redondo A, Rojas-García R, Borrego-Hernández D, Illán-Gala I, Muñoz-Blanco JL, Rábano A, Cervera-Carles L, Juárez-Rufián A, Spataro N, De Luna N, Galán L, Cortes-Vicente E, Fortea J, Blesa R, Grau-Rivera O, Lleó A, Esteban-Pérez J, Gelpi E, Clarimón J.

J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):162-168. doi: 10.1136/jnnp-2017-316820. Epub 2017 Sep 9.

PMID:
28889094
9.

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.

10.

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.

11.

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
12.

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
13.

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R.

Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4.

14.

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, Lucia A, de Luna N, Pinós T.

Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Epub 2015 Jun 3. Review.

PMID:
25914343
15.

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.

J Physiol. 2015 Jun 15;593(12):2693-706. doi: 10.1113/JP270085. Epub 2015 May 18.

16.

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

de Luna N, Brull A, Guiu JM, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.

Dis Model Mech. 2015 May;8(5):467-72. doi: 10.1242/dmm.020230. Epub 2015 Mar 11.

17.

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T.

Neuromuscul Disord. 2014 Dec;24(12):1079-86. doi: 10.1016/j.nmd.2014.08.002. Epub 2014 Aug 21.

PMID:
25240406
18.

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T.

J Inherit Metab Dis. 2015 Mar;38(2):221-30. doi: 10.1007/s10545-014-9743-2. Epub 2014 Jul 23.

PMID:
25053163
19.

McArdle disease: a unique study model in sports medicine.

Santalla A, Nogales-Gadea G, Ørtenblad N, Brull A, de Luna N, Pinós T, Lucia A.

Sports Med. 2014 Nov;44(11):1531-44. doi: 10.1007/s40279-014-0223-5. Review.

PMID:
25028051
20.

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

De Luna N, Díaz-Manera J, Paradas C, Iturriaga C, Rojas-García R, Araque J, Genebriera M, Gich I, Illa I, Gallardo E.

Mol Ther. 2012 Oct;20(10):1988-97. doi: 10.1038/mt.2012.156. Epub 2012 Aug 21.

21.

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.

Díaz-Manera J, Gallardo E, de Luna N, Navas M, Soria L, Garibaldi M, Rojas-García R, Tonlorenzi R, Cossu G, Illa I.

J Pathol. 2012 Dec;228(4):544-53. doi: 10.1002/path.4083. Epub 2012 Oct 5.

PMID:
22847756
22.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL.

Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21.

PMID:
22730558
23.

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Gallardo E, de Luna N, Diaz-Manera J, Rojas-García R, Gonzalez-Quereda L, Flix B, de Morrée A, van der Maarel S, Illa I.

PLoS One. 2011;6(12):e29061. doi: 10.1371/journal.pone.0029061. Epub 2011 Dec 16.

24.

Identification of novel GH-regulated genes in C2C12 cells.

Resmini E, Morte B, Sorianello E, Gallardo E, de Luna N, Illa I, Zorzano A, Bernal J, Webb SM.

Horm Metab Res. 2011 Dec;43(13):919-30. doi: 10.1055/s-0031-1291285. Epub 2011 Nov 9.

PMID:
22072432
25.

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.

Meznaric M, Gonzalez-Quereda L, Gallardo E, de Luna N, Gallano P, Fanin M, Angelini C, Peterlin B, Zidar J.

Eur J Neurol. 2011 Jul;18(7):1021-3. doi: 10.1111/j.1468-1331.2010.03240.x. Epub 2010 Oct 18.

PMID:
21658164
26.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.

Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23.

PMID:
20574037
27.

Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.

De Luna N, Gallardo E, Sonnet C, Chazaud B, Dominguez-Perles R, Suarez-Calvet X, Gherardi RK, Illa I.

J Neuropathol Exp Neurol. 2010 Jun;69(6):643-53. doi: 10.1097/NEN.0b013e3181e0d01c.

PMID:
20467328
28.

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.

Rojas-Garcia R, Gallardo E, De Luna N, Juarez C, Martinez-Hernandez E, Carvajal A, Casasnovas C, Fages E, Davila-González P, Illa I.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):623-8. doi: 10.1136/jnnp.2009.183517. Epub 2009 Sep 2.

PMID:
19726412
29.

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.

De la Torre C, Illa I, Faulkner G, Soria L, Robles-Cedeño R, Dominguez-Perles R, De Luna N, Gallardo E.

Proteomics Clin Appl. 2009 Apr;3(4):486-97. doi: 10.1002/prca.200800087. Epub 2009 Mar 9.

PMID:
21136973
30.

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P.

Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.

PMID:
19084402
31.

Antibodies against disialosyl and terminal NeuNAc(alpha2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy.

Rojas-Garcia R, Gallardo E, Povedano M, de Luna N, Bruna J, Juarez C, Diaz-Manera J, Martinez-Matos JA, Illa I.

J Neurol. 2008 May;255(5):764-6. doi: 10.1007/s00415-008-0803-0. Epub 2008 Mar 17. No abstract available.

PMID:
18344054
32.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9. Epub 2007 Feb 7.

PMID:
17287450
33.

Dysferlin expression in monocytes: a source of mRNA for mutation analysis.

De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez JJ, Márquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E.

Neuromuscul Disord. 2007 Jan;17(1):69-76. Epub 2006 Oct 27.

PMID:
17070050
34.

A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsy.

Rojas-Garcia R, Martinez-Lage M, Gallardo E, de Luna N, Marti-Vilalta JL, Diaz-Manera J, Juarez C, Blesa R, Illa I.

J Neuroimmunol. 2006 Jul;176(1-2):219-22. Epub 2006 May 16.

PMID:
16707165
35.

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, Rojas-García R, García-Verdugo JM, Illa I.

J Biol Chem. 2006 Jun 23;281(25):17092-8. Epub 2006 Apr 11.

36.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I.

Arch Neurol. 2005 Aug;62(8):1256-9.

PMID:
16087766
37.

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.

Paradas C, Márquez C, Gallardo E, De Luna N, Chinchón I, Recan D, Jiménez MD, Illa I.

Muscle Nerve. 2005 Jul;32(1):61-5.

PMID:
15880484
38.

In vivo and in vitro dysferlin expression in human muscle satellite cells.

De Luna N, Gallardo E, Illa I.

J Neuropathol Exp Neurol. 2004 Oct;63(10):1104-13.

PMID:
15535137
39.

Chronic neuropathy with IgM anti-ganglioside antibodies: lack of long term response to rituximab.

Rojas-García R, Gallardo E, de Andrés I, de Luna N, Juarez C, Sánchez P, Illa I.

Neurology. 2003 Dec 23;61(12):1814-6.

PMID:
14694058
40.

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy.

Serrano-Munuera C, Rojas-García R, Gallardo E, De Luna N, Buenaventura I, Ferrero M, García T, García-Merino JA, González-Rodríguez C, Guerriero A, Marco M, Márquez C, Grau JM, Graus F, Illa I.

J Neurol. 2002 Nov;249(11):1525-8.

PMID:
12420092
41.

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.

Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown RH Jr.

Ann Neurol. 2002 Jan;51(1):129-33.

PMID:
11782994
42.

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

Gallardo E, Rojas-García R, de Luna N, Pou A, Brown RH Jr, Illa I.

Neurology. 2001 Dec 11;57(11):2136-8.

PMID:
11739845
43.

Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance.

Serrano-Munuera C, Gallardo E, Rojas R, De Luna N, González-Masegosa A, Martí-Massó JF, Martínez-Matos A, Ortíz N, Reñé R, Berciano J, Grau JM, Willison HJ, Graus F, Illa I.

J Neuroimmunol. 2001 Nov 1;120(1-2):78-83.

PMID:
11694322
44.

[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].

Rojas-García R, Gallardo E, Serrano-Munuera C, de Luna N, Ortiz E, Roig C, Grau-Veciana JM, Illa I.

Med Clin (Barc). 2001 Jun 2;116(20):761-4. Spanish.

PMID:
11440679

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