MIREN AMETSA
SÁENZ PEÑA
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Instituto de Investigación Sanitaria Biodonostia
San Sebastián, EspañaPublications in collaboration with researchers from Instituto de Investigación Sanitaria Biodonostia (13)
2024
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Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis
Neurobiology of Disease, Vol. 192
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The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy
Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476
2023
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Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1
2022
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Senescence plays a role in myotonic dystrophy type 1
JCI insight, Vol. 7, Núm. 19
2021
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Allosteric modulation of GSK‐3β as a new therapeutic approach in limb girdle muscular dystrophy R1 Calpain 3‐related
International Journal of Molecular Sciences, Vol. 22, Núm. 14
2020
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Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040
2019
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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
International Journal of Molecular Sciences, Vol. 20, Núm. 18
2017
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Dominant LGMD2A: Alternative diagnosis or hidden digenism?
Brain
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FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway
Expert Reviews in Molecular Medicine, Vol. 19
2015
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Costamere proteins and their involvement in myopathic processes
Expert Reviews in Molecular Medicine, Vol. 17
2012
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Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3
Human Molecular Genetics, Vol. 21, Núm. 14, pp. 3193-3204
2011
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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714