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Page 1
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: urtizberea ja. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Carrié A, et al. Among authors: urtizberea ja. J Med Genet. 1997 Jun;34(6):470-5. doi: 10.1136/jmg.34.6.470. J Med Genet. 1997. PMID: 9192266 Free PMC article.
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H. Dinçer P, et al. Among authors: urtizberea ja. Ann Neurol. 1997 Aug;42(2):222-9. doi: 10.1002/ana.410420214. Ann Neurol. 1997. PMID: 9266733
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Topaloğlu H, Dinçer P, Richard I, Akçören Z, Alehan D, Ozme S, Cağlar M, Karaduman A, Urtizberea JA, Beckmann JS. Topaloğlu H, et al. Among authors: urtizberea ja. Neuropediatrics. 1997 Aug;28(4):212-6. doi: 10.1055/s-2007-973702. Neuropediatrics. 1997. PMID: 9309711
A novel form of familial congenital muscular dystrophy in two adolescents.
Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP. Salih MA, et al. Among authors: urtizberea ja. Neuropediatrics. 1998 Dec;29(6):289-93. doi: 10.1055/s-2007-973579. Neuropediatrics. 1998. PMID: 10029346
Calpainopathy-a survey of mutations and polymorphisms.
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Among authors: urtizberea ja. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: urtizberea ja. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538
123 results