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Page 1
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B. Savarese M, et al. Among authors: urtizberea ja. Ann Neurol. 2019 Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. Ann Neurol. 2019. PMID: 30900782
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Among authors: urtizberea ja. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Among authors: urtizberea ja. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: urtizberea ja. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: urtizberea ja. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Susman RD, et al. Among authors: urtizberea ja. Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12. Neuromuscul Disord. 2010. PMID: 20227276
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: urtizberea ja. Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. Med Clin (Barc). 2019. PMID: 30685181 English, Spanish.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY. Barp A, et al. Among authors: urtizberea ja. J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. J Neurol. 2020. PMID: 31555977 Free article.
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Pelin K, et al. Among authors: urtizberea ja. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. doi: 10.1073/pnas.96.5.2305. Proc Natl Acad Sci U S A. 1999. PMID: 10051637 Free PMC article.
123 results