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Page 1
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.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
Late onset distal myopathy: A new telethoninopathy.
Blanco-Palmero VA, Hernández-Laín A, Uriarte-Pérez de Urabayen D, Cantero-Montenegro D, Olivé M, Domínguez-González C. Blanco-Palmero VA, et al. Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13. Neuromuscul Disord. 2019. PMID: 30553702 No abstract available.
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C. Domínguez-González C, et al. Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z. Orphanet J Rare Dis. 2019. PMID: 31060578 Free PMC article.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Rodríguez-López C, et al. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161153
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Panadés-de Oliveira L, Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Cantero Montenegro D, Hernández Lain A, Martí P, Muelas N, Vilchez JJ, Domínguez-González C. Panadés-de Oliveira L, et al. J Neurol. 2020 Sep;267(9):2546-2555. doi: 10.1007/s00415-020-09872-7. Epub 2020 May 4. J Neurol. 2020. PMID: 32367299
106 results