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447 results

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Page 1
Abnormal spontaneous activity in primary myopathic disorders.
Nojszewska M, Gawel M, Szmidt-Salkowska E, Kostera-Pruszczyk A, Potulska-Chromik A, Lusakowska A, Kierdaszuk B, Lipowska M, Macias A, Gawel D, Seroka A, Kaminska AM. Nojszewska M, et al. Among authors: macias a. Muscle Nerve. 2017 Sep;56(3):427-432. doi: 10.1002/mus.25521. Epub 2017 Jun 17. Muscle Nerve. 2017. PMID: 28000226
CAV3 mutation in a patient with transient hyperCKemia and myalgia.
Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. Macias A, et al. Neurol Neurochir Pol. 2016 Nov-Dec;50(6):468-473. doi: 10.1016/j.pjnns.2016.06.008. Epub 2016 Jul 9. Neurol Neurochir Pol. 2016. PMID: 27772553
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: macias a. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258
Kir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.
Cruz FM, Moreno-Manuel AI, Pérez Patricia S, Ruiz-Robles JM, Socuellamos PG, Gutiérrez LK, Vera-Pedrosa ML, Gutierrez AT, Mondéjar Parreño G, Macías Á, Martínez-Carrascoso I, Bermúdez-Jiménez FJ, Arias Santiago S, Martínez de Benito F, Braza-Boils A, Valenzuela C, Morillo CA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Among authors: macias a. medRxiv [Preprint]. 2024 Dec 11:2024.12.10.24318629. doi: 10.1101/2024.12.10.24318629. medRxiv. 2024. PMID: 39711719 Free PMC article. Preprint.
Adult height in girls with idiopathic central precocious puberty treated with triptorelin.
Corripio R, Soriano-Guillén L, Herrero FJ, Castro-Feijoó L, Escribano A, Sol-Ventura P, Espino R, Vela A, Labarta JI; Spanish PUBERE Group; Argente J. Corripio R, et al. Front Endocrinol (Lausanne). 2024 Dec 5;15:1498726. doi: 10.3389/fendo.2024.1498726. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39703867 Free PMC article.
447 results