Pediatría
Departamento
ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
Publicaciones en las que colabora con ADOLFO JOSE LOPEZ DE MUNAIN ARREGUI (15)
2023
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells
Frontiers in Cell and Developmental Biology, Vol. 11
2022
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A Ca2+-Dependent Mechanism Boosting Glycolysis and OXPHOS by Activating Aralar-Malate-Aspartate Shuttle, upon Neuronal Stimulation
The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 42, Núm. 19, pp. 3879-3895
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
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Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
Frontiers in Cell and Developmental Biology, Vol. 10
2021
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Discovery of a novel family of FKBP12 “reshapers” and their use as calcium modulators in skeletal muscle under nitro-oxidative stress
European Journal of Medicinal Chemistry, Vol. 213
2019
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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
International Journal of Molecular Sciences, Vol. 20, Núm. 18
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2016
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Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle
Expert Reviews in Molecular Medicine, Vol. 18
2014
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Dysregulation of calcium homeostasis in muscular dystrophies
Expert reviews in molecular medicine, Vol. 16, pp. e16
2005
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A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization
Fertility and Sterility, Vol. 84, Núm. 3, pp. 756.e5-756.e8
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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families
Annals of Neurology, Vol. 57, Núm. 3, pp. 365-372
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Trimetazidine induces parkinsonism, gait disorders and tremor
Therapie
2004
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Mitochondrial polymporphisms in Parkinson's Disease
Neuroscience Letters, Vol. 370, Núm. 2-3, pp. 171-174