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Page 1
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: urtizberea a. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Lucioli S, et al. Among authors: urtizberea a. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66. Neurology. 2005. PMID: 15955946
Clinical aspects of neuromuscular diseases.
Desguerre I, Urtizberea A. Desguerre I, et al. Among authors: urtizberea a. Pediatr Pulmonol Suppl. 1997;16:132-3. doi: 10.1002/ppul.1950230872. Pediatr Pulmonol Suppl. 1997. PMID: 9443240 Review. No abstract available.
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P. Claeys KG, et al. Among authors: urtizberea a. Neuromuscul Disord. 2010 Nov;20(11):701-8. doi: 10.1016/j.nmd.2010.06.006. Epub 2010 Jul 15. Neuromuscul Disord. 2010. PMID: 20637616
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. Guergueltcheva V, et al. Among authors: urtizberea a. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. Torelli S, et al. Among authors: urtizberea a. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):955-965. doi: 10.1093/jnen/nlab088. J Neuropathol Exp Neurol. 2021. PMID: 34498054 Free PMC article.
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM. Merlini L, et al. Among authors: urtizberea a. Neurology. 2000 Mar 14;54(5):1075-9. doi: 10.1212/wnl.54.5.1075. Neurology. 2000. PMID: 10720277
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. Among authors: urtizberea a. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
58 results