ROBERTO
FERNÁNDEZ TORRON
Publicaciones (71) Publicaciones de ROBERTO FERNÁNDEZ TORRON
2024
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Age- and Sex-Related Differences in Patients With Wild-Type Transthyretin Amyloidosis: Insights From THAOS
JACC: Advances, Vol. 3, Núm. 8
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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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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
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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Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Muscle and Nerve, Vol. 65, Núm. 5, pp. 531-540
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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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Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Journal of Neurology, Vol. 269, Núm. 7, pp. 3550-3562
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Senescence plays a role in myotonic dystrophy type 1
JCI insight, Vol. 7, Núm. 19
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Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13, Núm. 3, pp. 1850-1863
2021
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A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey
Neurology and Therapy, Vol. 10, Núm. 2, pp. 833-845
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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Neuromuscular Disorders, Vol. 31, Núm. 4, pp. 265-280
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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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Neurology, Vol. 94, Núm. 10, pp. e1094-e1102
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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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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Neurologia, Vol. 35, Núm. 3, pp. 185-206
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Clinical, morphological and genetic characterization of Brody disease: An international study of 40 patients
Brain, Vol. 143, Núm. 2, pp. 452-466