Raffaella Violano
Overview
Explore the profile of Raffaella Violano including associated specialties, affiliations and a list of published articles.
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10
Citations
243
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Recent Articles
1.
Gang Q, Bettencourt C, Brady S, Holton J, Healy E, McConville J, et al.
Ann Clin Transl Neurol
. 2021 Dec;
9(1):4-15.
PMID: 34908252
Objective: A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to...
2.
Morin G, Biancalana V, Echaniz-Laguna A, Noury J, Lornage X, Moggio M, et al.
Hum Mutat
. 2019 Aug;
41(1):17-37.
PMID: 31448844
Calcium (Ca ) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca entry, storage, and release. Store-operated Ca entry...
3.
Pagliarani S, Lucchiari S, Ulzi G, Ripolone M, Violano R, Fortunato F, et al.
Biochim Biophys Acta Mol Basis Dis
. 2018 Aug;
1864(10):3407-3417.
PMID: 30076962
Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle...
4.
Bohm J, Bulla M, Urquhart J, Malfatti E, Williams S, OSullivan J, et al.
Hum Mutat
. 2017 Jan;
38(4):426-438.
PMID: 28058752
Calcium (Ca ) is a physiological key factor, and the precise modulation of free cytosolic Ca levels regulates multiple cellular functions. Store-operated Ca entry (SOCE) is a major mechanism controlling...
5.
Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, et al.
Cell Rep
. 2016 Dec;
17(11):3010-3023.
PMID: 27974213
Mitochondrial dysfunction occurs in many muscle degenerative disorders. Here, we demonstrate that mitochondrial biogenesis was impaired in limb-girdle muscular dystrophy (LGMD) 2D patients and mice and was associated with impaired...
6.
Gang Q, Bettencourt C, Machado P, Brady S, Holton J, Pittman A, et al.
Neurobiol Aging
. 2016 Sep;
47:218.e1-218.e9.
PMID: 27594680
Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with...
7.
Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, et al.
JAMA Neurol
. 2015 Apr;
72(6):666-75.
PMID: 25844556
Importance: The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria...
8.
Gang Q, Bettencourt C, Machado P, Fox Z, Brady S, Healy E, et al.
Neurobiol Aging
. 2015 Feb;
36(4):1766.e1-1766.e3.
PMID: 25670332
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer...
9.
Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, et al.
Biochim Biophys Acta
. 2014 Aug;
1842(11):2318-28.
PMID: 25092169
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia,...
10.
Cortese A, Tucci A, Piccolo G, Galimberti C, Fratta P, Marchioni E, et al.
Neurology
. 2014 May;
82(23):2072-6.
PMID: 24827497
Objective: To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy. Methods: Clinical, pathologic, and genetic study. Results:...