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123 results

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[The SMA France national registry: already encouraging results].
Lemoine M, Gomez M, Grimaldi L, Urtizberea JA, Quijano-Roy S. Lemoine M, et al. Among authors: urtizberea ja. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:25-29. doi: 10.1051/medsci/2021187. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878390 Free article. French.
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. Carmignac V, et al. Among authors: urtizberea ja. Ann Neurol. 2007 Apr;61(4):340-51. doi: 10.1002/ana.21089. Ann Neurol. 2007. PMID: 17444505
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: urtizberea ja. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, Cossée M. Perrin A, et al. Among authors: urtizberea ja. Med Sci (Paris). 2018 Nov;34 Hors série n°2:20-22. doi: 10.1051/medsci/201834s206. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418140 Free article. French. No abstract available.
[SMA in France, how many patients ?].
Urtizberea JA, Daidj F; le réseau Filnemus. Urtizberea JA, et al. Med Sci (Paris). 2018 Nov;34 Hors série n°2:32-34. doi: 10.1051/medsci/201834s209. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418143 Free article. French. No abstract available.
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.
[The Frozen Man and the Chinese Alphabet].
Urtizberea JA, Kaplan JC. Urtizberea JA, et al. Med Sci (Paris). 2020 Dec;36 Hors série n° 2:38-50. doi: 10.1051/medsci/2020266. Epub 2021 Jan 11. Med Sci (Paris). 2020. PMID: 33427635 Free article. French.
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA. Echaniz-Laguna A, et al. Among authors: urtizberea ja. Neurogenetics. 2021 Oct;22(4):333-341. doi: 10.1007/s10048-021-00668-z. Epub 2021 Aug 17. Neurogenetics. 2021. PMID: 34405299
[AcadeMYO, a successful bet].
Urtizberea JA, Romero NB. Urtizberea JA, et al. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:5. doi: 10.1051/medsci/2021199. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878384 Free article. French. No abstract available.
123 results