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2009 1
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69 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
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: fernandez torron r. Neurologia (Engl Ed). 2020 Apr;35(3):185-206. doi: 10.1016/j.nrl.2019.01.001. Epub 2019 Apr 16. Neurologia (Engl Ed). 2020. PMID: 31003788 Free article. English, Spanish.
MYO-MRI diagnostic protocols in genetic myopathies.
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group. Warman Chardon J, et al. Among authors: fernandez torron r. Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Neuromuscul Disord. 2019. PMID: 31727541 Review.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: fernandez torron r. Brain. 2024 Aug 1;147(8):2867-2883. doi: 10.1093/brain/awae046. Brain. 2024. PMID: 38366623 Free PMC article.
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Iruzubieta P, Pellerin D, Bergareche A, Albajar I, Mondragón E, Vinagre A, Fernández-Torrón R, Moreno F, Equiza J, Campo-Caballero D, Poza JJ, Ruibal M, Formica A, Dicaire MJ, Danzi MC, Zuchner S, Croitoru I, Ruiz M, Schlüter A, Casasnovas C, Pujol A, Brais B, Houlden H, López de Munain A, Ruiz-Martínez J. Iruzubieta P, et al. Among authors: fernandez torron r. Eur J Neurol. 2023 Dec;30(12):3828-3833. doi: 10.1111/ene.16039. Epub 2023 Aug 27. Eur J Neurol. 2023. PMID: 37578187 Free article.
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
Zufiría M, Pikatza-Menoio O, Garciandia-Arcelus M, Bengoetxea X, Jiménez A, Elicegui A, Levchuk M, Arnold-García O, Ondaro J, Iruzubieta P, Rodríguez-Gómez L, Fernández-Pelayo U, Muñoz-Oreja M, Aiastui A, García-Verdugo JM, Herranz-Pérez V, Zulaica M, Poza JJ, Ruiz-Onandi R, Fernández-Torrón R, Espinal JB, Bonilla M, Lersundi A, Fernández-Eulate G, Riancho J, Vallejo-Illarramendi A, Holt IJ, Sáenz A, Malfatti E, Duguez S, Blázquez L, López de Munain A, Gerenu G, Gil-Bea F, Alonso-Martín S. Zufiría M, et al. Among authors: fernandez torron r. Acta Neuropathol. 2024 Sep 16;148(1):43. doi: 10.1007/s00401-024-02794-y. Acta Neuropathol. 2024. PMID: 39283487 Free PMC article.
Senescence plays a role in myotonic dystrophy type 1.
García-Puga M, Saenz-Antoñanzas A, Gerenu G, Arrieta-Legorburu A, Fernández-Torrón R, Zulaica M, Saenz A, Elizazu J, Nogales-Gadea G, Gadalla SM, Araúzo-Bravo MJ, López de Munain A, Matheu A. García-Puga M, et al. Among authors: fernandez torron r. JCI Insight. 2022 Oct 10;7(19):e159357. doi: 10.1172/jci.insight.159357. JCI Insight. 2022. PMID: 36040809 Free PMC article.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: fernandez torron r. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1).
Alegre-Cortés E, Giménez-Bejarano A, Uribe-Carretero E, Paredes-Barquero M, Marques ARA, Lopes-da-Silva M, Vieira OV, Canales-Cortés S, Camello PJ, Martínez-Chacón G, Aiastui A, Fernández-Torrón R, López de Munain A, Gomez-Suaga P, Niso-Santano M, González-Polo RA, Fuentes JM, Yakhine-Diop SMS. Alegre-Cortés E, et al. Among authors: fernandez torron r. Cells. 2022 Sep 27;11(19):3018. doi: 10.3390/cells11193018. Cells. 2022. PMID: 36230978 Free PMC article.
69 results