ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
![Foto de ADOLFO JOSE](/img/nophoto.png)
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University of Helsinki
Helsinki, FinlandiaPublikationen in Zusammenarbeit mit Forschern von University of Helsinki (9)
2023
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
2020
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Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488
2016
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Nature Communications, Vol. 7
2015
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Large-scale recent expansion of European patrilineages shown by population resequencing
Nature Communications, Vol. 6
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The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades
Molecular Biology and Evolution, Vol. 32, Núm. 3, pp. 661-673
2011
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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
Nature Medicine, Vol. 17, Núm. 6, pp. 720-725