ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
![Foto de Amets](/img/nophoto.png)
Amets
Sáenz Peña
Publicaciones en las que colabora con Amets Sáenz Peña (38)
2024
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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
2014
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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A
Muscle and Nerve, Vol. 50, Núm. 3, pp. 448-453
2012
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C3KO mouse expression analysis: Downregulation of the muscular dystrophy Ky protein and alterations in muscle aging
Neurogenetics, Vol. 13, Núm. 4, pp. 347-357
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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
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Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?
Clinical Genetics
2008
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Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis
Neurogenetics, Vol. 9, Núm. 3, pp. 173-182
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Gene expression profiling in limb-girdle muscular dystrophy 2A
PLoS ONE, Vol. 3, Núm. 11
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Matrices de ADN: Visión general y aplicaciones específicas
Medicina Clinica, Vol. 130, Núm. 13, pp. 504-509
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Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings
Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952
2007
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Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population
Neurobiology of Aging, Vol. 28, Núm. 12, pp. 1941-1943