ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
Publikationen (349) Publikationen von ADOLFO JOSE LOPEZ DE MUNAIN ARREGUI
2024
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A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival
Science Signaling, Vol. 17, Núm. 822
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AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action
Science advances, Vol. 10, Núm. 41, pp. eadn6525
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Brain, Vol. 147, Núm. 8, pp. 2867-2883
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CNS involvement in myotonic dystrophy type 1: does sex play a role?
Frontiers in Neurology , Vol. 15
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Correction to: 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, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)
Journal of Neurology
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis
Acta Neuropathologica, Vol. 148, Núm. 1
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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome
Movement Disorders
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Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production
Theriogenology, Vol. 218, pp. 111-118
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898
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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Movement Disorders, Vol. 39, Núm. 1, pp. 209-214
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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
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Understanding the olfactory role in post-COVID cognitive and neuropsychiatric manifestations
Frontiers in Psychology, Vol. 15
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
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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
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Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease
Cells, Vol. 12, Núm. 5
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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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Clinical phenotype of postural orthostatic tachycardia associated with anti-adrenergic receptor antibodies
Gaceta médica de Bilbao: Revista oficial de la Academia de Ciencias Médicas de Bilbao. Información para profesionales sanitarios, Vol. 120, Núm. 2, pp. 66-73
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Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome
Journal of Translational Medicine, Vol. 21, Núm. 1
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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study
Neurologia, Vol. 38, Núm. 6, pp. 379-386