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Page 1
Functional coupling of parietal α rhythms is enhanced in athletes before visuomotor performance: a coherence electroencephalographic study.
Del Percio C, Iacoboni M, Lizio R, Marzano N, Infarinato F, Vecchio F, Bertollo M, Robazza C, Comani S, Limatola C, Babiloni C. Del Percio C, et al. Neuroscience. 2011 Feb 23;175:198-211. doi: 10.1016/j.neuroscience.2010.11.031. Epub 2010 Dec 7. Neuroscience. 2011. PMID: 21144884
It has been shown that elite pistol shooters are characterized by a power increase of wide cortical electroencephalographic (EEG) alpha (about 8-12 Hz) and beta (about 14-35 Hz) rhythms during the preparation of air pistol shots, possibly related to selective attentional and "neu …
It has been shown that elite pistol shooters are characterized by a power increase of wide cortical electroencephalographic (EEG) alpha (abo …
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Panicucci C, et al. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31. Neuropediatrics. 2023. PMID: 37257496 Free article. Review.
Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition of the m …
Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the …
Incremental Value of Right Atrial Strain Analysis to Predict Atrial Fibrillation Recurrence After Electrical Cardioversion.
Tomaselli M, Badano LP, Cannone V, Radu N, Curti E, Perelli F, Heilbron F, Gavazzoni M, Rella V, Oliverio G, Caravita S, Baratto C, Perego GB, Parati G, Brasca F, Muraru D. Tomaselli M, et al. J Am Soc Echocardiogr. 2023 Sep;36(9):945-955. doi: 10.1016/j.echo.2023.05.011. Epub 2023 Jun 9. J Am Soc Echocardiogr. 2023. PMID: 37302440 Free article.
Antioxidant capacity and fragmentation features of C-glycoside isoflavones by high-resolution electrospray ionization tandem mass spectrometry using collision-induced and high-energy collisional dissociation techniques.
de Moura PHB, Porzel A, Nunes RM, Baratto LC, Wessjohann LA, Martins RCC, Leal ICR. de Moura PHB, et al. J Mass Spectrom. 2021 Nov 9;56(12):e4793. doi: 10.1002/jms.4793. Online ahead of print. J Mass Spectrom. 2021. PMID: 34881488
In both methods, the EC(50) of orobol-8-C-glycoside was almost twice better compared with orobol-6-C-glycoside. ...The orobol C-derivatives showed high radical scavenging effects. Orobol-8-C-glycoside showed higher antioxidant capacity....
In both methods, the EC(50) of orobol-8-C-glycoside was almost twice better compared with orobol-6-C-glycoside. ...The orobol …
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Cardone N, et al. Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4. Acta Neuropathol Commun. 2023. PMID: 36945066 Free PMC article.
In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscular weakness, and a novel homozygous TTN pathogenic variant in a metatranscript-only exon: the c.36400A > T, p.Lys12134*. Muscle bi …
In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a rigid spine, non progressive muscul …
Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C. Panicucci C, et al. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn) localised in the c-terminus NHL domain. ...
In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn …
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Massucco S, Gemelli C, Bellone E, Geroldi A, Patrone S, Mandich P, Scarsi E, Faedo E, Marinelli L, Mongini T, Traverso M, Baratto S, Schenone A, Fiorillo C, Grandis M. Massucco S, et al. Acta Myol. 2023 Dec 20;42(4):113-117. doi: 10.36185/2532-1900-323. eCollection 2023. Acta Myol. 2023. PMID: 38406380 Free PMC article. Review.
Finally, Whole-Exome Sequencing (WES) identified two pathogenic SORD variants in the heterozygous state: c.458C > A (p.Ala153Asp) and c.757delG (p.Ala253Glnfs*27). This is an isolated report of compound heterozygosity for two SORD mutations associated with clinic …
Finally, Whole-Exome Sequencing (WES) identified two pathogenic SORD variants in the heterozygous state: c.458C > A (p.Ala153Asp) …
69 results