ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
![Foto de Roberto](/img/nophoto.png)
Roberto
Fernández Torrón
Publicaciones en las que colabora con Roberto Fernández Torrón (30)
2024
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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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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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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome
Movement Disorders
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
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Erratum: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(Brain (2020) 143:9 (2696–2708) DOI:10.1093/brain/awaa228)
Brain
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833
2022
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Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)
Cells, Vol. 11, Núm. 19
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Senescence plays a role in myotonic dystrophy type 1
JCI insight, Vol. 7, Núm. 19
2020
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A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 21, Núm. 3-4, pp. 252-262
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Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
Neurology, Vol. 94, Núm. 11, pp. e1171-e1180
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Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 126-131
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Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin
Aging, Vol. 12, Núm. 7, pp. 6260-6275
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Vol. 143, Núm. 9, pp. 2696-2708
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Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373
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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
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Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease
Medicina Clinica, Vol. 154, Núm. 3, pp. 80-85
2019
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585
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PDGF-BB serum levels are decreased in adult onset Pompe patients
Scientific Reports, Vol. 9, Núm. 1
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Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136
2018
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Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis
Muscle and Nerve, Vol. 58, Núm. 4, pp. 517-522