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Items: 20

1.

Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?

Vázquez-Costa JF, Pedrola Vidal L, Moreau-Le Lan S, Teresí-Copoví I, Frasquet M, Chumillas MJ, Sevilla T.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):172-175. doi: 10.1080/21678421.2019.1582671. Epub 2019 Mar 20.

PMID:
30889971
2.

Quantitative neuromuscular ultrasound analysis as biomarkers in amyotrophic lateral sclerosis.

Ríos-Díaz J, Del Baño-Aledo ME, Tembl-Ferrairó JI, Chumillas MJ, Vázquez-Costa JF, Martínez-Payá JJ.

Eur Radiol. 2019 Aug;29(8):4266-4275. doi: 10.1007/s00330-018-5943-8. Epub 2019 Jan 21.

PMID:
30666448
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.

New insights into the pathophysiology of fasciculations in amyotrophic lateral sclerosis: An ultrasound study.

Vázquez-Costa JF, Campins-Romeu M, Martínez-Payá JJ, Tembl JI, Del Baño-Aledo ME, Ríos-Díaz J, Fornés-Ferrer V, Chumillas MJ, Sevilla T.

Clin Neurophysiol. 2018 Dec;129(12):2650-2657. doi: 10.1016/j.clinph.2018.09.014. Epub 2018 Sep 24.

PMID:
30292684
5.

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
6.

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.

7.

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.

8.

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
9.

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
10.

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
11.

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.

12.

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
13.

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
14.

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
15.

[The vestibulocollic reflex: assessment and characteristics of vestibular-evoked myogenic potentials analysed by age groups].

Gonzalez-Garcia E, Piqueras-Del Rey A, Martin-Alba V, Parra-Escorihuela S, Soler-Algarra S, Chumillas MJ, Perez-Guillen V, Perez-Garrigues H, Morera-Perez C.

Rev Neurol. 2007 Mar 16-31;44(6):339-42. Spanish.

16.

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.

Brain. 2003 Sep;126(Pt 9):2023-33. Epub 2003 Jun 23.

PMID:
12821518
17.

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.

Nat Genet. 2002 Jan;30(1):22-5. Epub 2001 Dec 17.

PMID:
11743580
18.

[Electrodiagnosis in disorders of neuromuscular transmission].

Chumillas MJ, Cortés V.

Rev Neurol. 2000 Jan 1-15;30(1):65-70. Review. Spanish.

PMID:
10743000
19.

[Lambert-Eaton myasthenic syndrome: response to treatment with 3,4-diaminopyridine].

Morata C, Alfaro A, Chumillas MJ, Montalar J.

Med Clin (Barc). 1995 Feb 4;104(4):156. Spanish. No abstract available.

PMID:
7898163
20.

Hypokalemic myopathy induced by Giardia lamblia.

Cervelló A, Alfaro A, Chumillas MJ.

N Engl J Med. 1993 Jul 15;329(3):210-1. No abstract available. Erratum in: N Engl J Med 1993 Oct 7;329(15):1139.

PMID:
8515799

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