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Items: 1 to 50 of 105

1.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
2.

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
3.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S.

Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.

PMID:
30066418
4.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

PMID:
29950440
5.

Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J.

PLoS One. 2018 Jun 6;13(6):e0198880. doi: 10.1371/journal.pone.0198880. eCollection 2018.

6.

ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J.

PLoS One. 2018 May 14;13(5):e0197254. doi: 10.1371/journal.pone.0197254. eCollection 2018. Erratum in: PLoS One. 2018 Jun 6;13(6):e0198880.

7.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
8.

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.

9.

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group.

Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.

PMID:
28728956
10.

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, González-Cabo P, García-López E, Vílchez JJ, Sanz-Gallego I, Pallardó FV, García-Giménez JL.

Sci Rep. 2017 Jul 12;7(1):5237. doi: 10.1038/s41598-017-04996-9.

11.

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.

12.

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.

Martí S, León M, Orellana C, Prieto J, Ponsoda X, López-García C, Vílchez JJ, Sevilla T, Torres J.

Stem Cell Res. 2017 Jan;18:1-4. doi: 10.1016/j.scr.2016.11.017. Epub 2016 Dec 2.

13.

Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis.

Torres-Vega E, Mancheño N, Cebrián-Silla A, Herranz-Pérez V, Chumillas MJ, Moris G, Joubert B, Honnorat J, Sevilla T, Vílchez JJ, Dalmau J, Graus F, García-Verdugo JM, Bataller L.

Neurology. 2017 Mar 28;88(13):1235-1242. doi: 10.1212/WNL.0000000000003778. Epub 2017 Mar 1.

14.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
15.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, Arteaga R, Colomer J, Vilchez JJ.

Neuromuscul Disord. 2016 Nov;26(11):789-795. doi: 10.1016/j.nmd.2016.08.005. Epub 2016 Aug 15.

PMID:
27634344
16.

Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma.

Torres-Vega E, Durán-Moreno M, Sánchez Del Pino M, Yáñez Y, Cañete A, Castel V, López-Cuevas R, Vílchez JJ, Dalmau J, Graus F, García Verdugo JM, Bataller L.

J Neuroimmunol. 2016 Aug 15;297:98-102. doi: 10.1016/j.jneuroim.2016.05.015. Epub 2016 May 25.

PMID:
27397082
17.

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

Vázquez-Costa JF, Bataller L, Vílchez JJ.

Ann Neurol. 2016 Jul;80(1):169-70. doi: 10.1002/ana.24671. Epub 2016 May 10. No abstract available.

PMID:
27121928
18.

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
19.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A.

Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23.

PMID:
26782015
20.

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia.

Vázquez-Costa JF, Beltrán E, Sopena P, Sabater A, Cardona F, Vilchez JJ, Pérez-Tur J, Sevilla T.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):297-300. doi: 10.3109/21678421.2015.1112407. Epub 2015 Nov 27. No abstract available.

PMID:
26613114
21.

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
22.

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
23.

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
24.

Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model.

Bargiela A, Cerro-Herreros E, Fernandez-Costa JM, Vilchez JJ, Llamusi B, Artero R.

Dis Model Mech. 2015 Jul 1;8(7):679-90. doi: 10.1242/dmm.018127.

25.

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
26.

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
27.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

28.

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
29.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I.

Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22.

PMID:
24459106
30.

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.

31.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R.

Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.

32.

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.

Fernandez-Costa JM, Garcia-Lopez A, Zuñiga S, Fernandez-Pedrosa V, Felipo-Benavent A, Mata M, Jaka O, Aiastui A, Hernandez-Torres F, Aguado B, Perez-Alonso M, Vilchez JJ, Lopez de Munain A, Artero RD.

Hum Mol Genet. 2013 Feb 15;22(4):704-16. doi: 10.1093/hmg/dds478. Epub 2012 Nov 8.

PMID:
23139243
33.

Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.

Alejaldre A, Díaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Morís G, Muelas N, Vílchez JJ, García-Medina A, Usón M, Martínez García FA, Illa I, Pichiecchio A.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011.

PMID:
22980766
34.

Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.

Sivera R, Martín N, Boscá I, Sevilla T, Muelas N, Azorín I, Vílchez JJ, Bolonio M, Donat E, Ribes-Koninckx C, Bataller L.

J Neurol. 2012 May;259(5):851-4. doi: 10.1007/s00415-011-6266-8. Epub 2011 Oct 8.

PMID:
21984193
35.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.

J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6.

PMID:
21975507
36.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H.

J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7.

PMID:
21822932
37.

[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I; Programa 3 (Enfermedades Neuromusculares) del Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) del Instituto de Salud Carlos III.

Neurologia. 2012 Apr;27(3):169-78. doi: 10.1016/j.nrl.2011.04.015. Epub 2011 Jun 23. Review. Spanish.

38.

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
39.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.

Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.

40.

Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients.

Rubio-Agusti I, Perez-Miralles F, Sevilla T, Muelas N, Chumillas MJ, Mayordomo F, Azorin I, Carmona E, Moscardo F, Palau J, Jacobson L, Vincent A, Vilchez JJ, Bataller L.

Neurology. 2011 Jan 11;76(2):172-8. doi: 10.1212/WNL.0b013e3182061b1e.

PMID:
21220721
41.

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
42.

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ.

Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5.

PMID:
20733148
43.

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ, Hilton-Jones D; European Federation of Neurological Societies.

Eur J Neurol. 2010 Jun 1;17(6):767-73. doi: 10.1111/j.1468-1331.2010.03012.x. Epub 2010 Apr 5.

PMID:
20402744
44.

Reversible paraneoplastic limbic encephalitis associated with antibodies to the AMPA receptor.

Bataller L, Galiano R, García-Escrig M, Martínez B, Sevilla T, Blasco R, Vílchez JJ, Dalmau J.

Neurology. 2010 Jan 19;74(3):265-7. doi: 10.1212/WNL.0b013e3181cb3e52. No abstract available.

45.

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.

46.

Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.

Garcia-Planells J, Torres-Puente M, Vilchez JJ, Pérez-Alonso M.

Hum Genet. 2009 Aug;126(2):338. No abstract available.

PMID:
19694016
47.

Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.

Garcia-Planells J, Torres-Puente M, Vilchez JJ, Perez-Alonso M.

Hum Genet. 2009 Aug;126(2):338. No abstract available.

PMID:
19694014
48.

Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies.

Bataller L, Valero C, Díaz R, Froufe A, Garcia-Zarza A, Ribalta T, Vilchez JJ, Saiz A.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):696-7. doi: 10.1136/jnnp.2008.161042. No abstract available.

PMID:
19448100
49.

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.

Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23.

PMID:
18812441
50.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Blázquez L, Azpitarte M, Sáenz A, Goicoechea M, Otaegui D, Ferrer X, Illa I, Gutierrez-Rivas E, Vilchez JJ, López de Munain A.

Neurogenetics. 2008 Jul;9(3):173-82. doi: 10.1007/s10048-008-0129-1. Epub 2008 Jun 19.

PMID:
18563459

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