Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Roberta Marozzo"'
Publikováno v:
European Journal of Translational Myology (2020)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and evaluation o
Externí odkaz:
https://doaj.org/article/3ef02ca74d004f5b81e5b130be8ae1a3
Autor:
Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo, Corrado Angelini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Aim To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients. Material and method A literature review was performed using the followin
Externí odkaz:
https://doaj.org/article/4f83ae29ee8b41c795a056723030aac4
Autor:
Corrado Angelini, Roberta Marozzo, Elena Pinzan, Valentina Pegoraro, Maria Judit Molnar, Annalaura Torella, Vincenzo Nigro
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 12 (2019)
We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to
Externí odkaz:
https://doaj.org/article/7d6b2a8f1e534dca976a30809a37b785
Publikováno v:
Diagnostics, Vol 10, Iss 9, p 713 (2020)
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acquired remark
Externí odkaz:
https://doaj.org/article/8865ae7b036d461eb6909f938cc7a0fd
Autor:
Valentina Papa, Giovanna Cenacchi, C. Angelini, Roberta Costa, Valentina Pegoraro, Roberta Marozzo, Marina Fanin
Publikováno v:
Virchows Archiv. 475:671-686
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of
Autor:
Cristina Capanni, Nicoletta Zini, Roberta Costa, Corrado Angelini, Giovanna Lattanzi, Roberta Marozzo, Giovanna Cenacchi, Maria Teresa Rodia, Spartaco Santi, Valentina Pegoraro
Publikováno v:
Molecular and Cellular Biochemistry
Transportin3 (TNPO3) shuttles the SR proteins from the cytoplasm to the nucleus. The SR family includes essential splicing factors, such as SRSF1, that influence alternative splicing, controlling protein diversity in muscle and satellite cell differe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd08852a86caf8b7af24964487d941e5
https://hdl.handle.net/11585/795741
https://hdl.handle.net/11585/795741
Publikováno v:
Expert review of neurotherapeutics. 20(12)
Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxidati
Publikováno v:
Diagnostics
Volume 10
Issue 9
Diagnostics, Vol 10, Iss 713, p 713 (2020)
Volume 10
Issue 9
Diagnostics, Vol 10, Iss 713, p 713 (2020)
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acquired remark
Publikováno v:
Clinical neuropathology. 39(3)
Aim Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by the progressive degeneration of motor neurons. MicroRNAs are 17 - 27 nucleotide long molecules that regulate post-transcriptional mRNA expression. The aim of this study
Autor:
Massimo Ralli, Arianna Di Stadio, Laura Dipietro, Valentina Pegoraro, Roberta Marozzo, Corrado Angelini
Purpose: We aimed at evaluating the feasibility of using MicroRNA (miR)-34a and miR-29b to detect inner ear damage in patients with mitochondrial disease (MD) and sensorineural hearing loss (SNHL)....
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa377b25cd9c20c3e3f53e31ae2ffb6
http://hdl.handle.net/11573/1412831
http://hdl.handle.net/11573/1412831