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Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient.
Hernandez Lain A, Millecamps S, Dubourg O, Salachas F, Bruneteau G, Lacomblez L, LeGuern E, Seilhean D, Duyckaerts C, Meininger V, Mallet J, Pradat PF. Hernandez Lain A, et al. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1414-6. doi: 10.1136/jnnp.2010.208868. Epub 2010 Jun 18. J Neurol Neurosurg Psychiatry. 2011. PMID: 20562395 No abstract available.
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. Among authors: hernandez lain a. 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.
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K, Hedberg-Oldfors C, Thomsen C, Glamuzina E, Kornblum C, Tasca G, Hernandez-Lain A, Sandstedt J, Dellgren G, Roach P, Oldfors A. Visuttijai K, et al. Among authors: hernandez lain a. J Clin Endocrinol Metab. 2020 Feb 1;105(2):557-66. doi: 10.1210/clinem/dgz075. J Clin Endocrinol Metab. 2020. PMID: 31628455 Free PMC article.
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L, Rodríguez-López C, Cantero Montenegro D, Marcos Toledano MDM, Fernández-Marmiesse A, Esteban Pérez J, Hernández Lain A, Domínguez-González C. Panadés-de Oliveira L, et al. Among authors: hernandez lain a. J Neurol. 2019 Apr;266(4):934-941. doi: 10.1007/s00415-019-09217-z. Epub 2019 Jan 31. J Neurol. 2019. PMID: 30706156
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. Among authors: hernandez lain a. J Neurol. 2020 Sep;267(9):2546-2555. doi: 10.1007/s00415-020-09872-7. Epub 2020 May 4. J Neurol. 2020. PMID: 32367299
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Carrasco-Rozas A, Fernández-Simón E, Suárez-Calvet X, Piñol-Jurado P, Alonso-Pérez J, de Luna N, Schoser B, Meinke P, Domínguez-González C, Hernández-Laín A, Paradas C, Rivas E, Illa I, Olivé M, Gallardo E, Díaz-Manera J. Carrasco-Rozas A, et al. Among authors: hernandez lain a. Am J Pathol. 2022 Aug;192(8):1151-1166. doi: 10.1016/j.ajpath.2022.05.003. Epub 2022 May 21. Am J Pathol. 2022. PMID: 35605642 Free article.
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Cantero D, Hernández-Laín A, Martínez JFG, Pérez MR, Ruano Y, Lleixà C, Gallardo E, Domínguez-González C. Cantero D, et al. Among authors: hernandez lain a. J Neurol Sci. 2018 Nov 15;394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5. J Neurol Sci. 2018. PMID: 30218921
139 results