Alessandra Ruggieri
Overview
Explore the profile of Alessandra Ruggieri including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
1639
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0
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Recent Articles
1.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone Y, Pugliese A, et al.
Neurology
. 2024 Aug;
103(4):e209697.
PMID: 39102614
Background And Objectives: The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly...
2.
Gibertini S, Ruggieri A, Cheli M, Maggi L
Int J Mol Sci
. 2023 May;
24(9).
PMID: 37176163
A number of muscular disorders are hallmarked by the aggregation of misfolded proteins within muscle fibers. A specialized form of macroautophagy, termed aggrephagy, is designated to remove and degrade protein...
3.
Maggi L, Gibertini S, Iannibelli E, Gallone A, Bonanno S, Cazzato D, et al.
J Neurol
. 2023 May;
270(9):4538-4543.
PMID: 37145156
No abstract available.
4.
Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, et al.
Acta Myol
. 2023 Apr;
42(1):2-13.
PMID: 37091525
The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's disease of...
5.
Klionsky D, Abdel-Aziz A, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, et al.
Autophagy
. 2021 Feb;
17(1):1-382.
PMID: 33634751
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our...
6.
Ruggieri A, Naumenko S, Smith M, Iannibelli E, Blasevich F, Bragato C, et al.
Acta Neuropathol
. 2020 May;
140(2):231-235.
PMID: 32451610
No abstract available.
7.
Saredi S, Cauley E, Ruggieri A, Spivey T, Ardissone A, Mora M, et al.
Muscle Nerve
. 2020 May;
62(2):266-271.
PMID: 32363625
Background: Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive and motor deficits, and variable presentation of dysmorphic facial features and brain malformations....
8.
Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Topf A, et al.
J Neuromuscul Dis
. 2020 Feb;
7(2):153-166.
PMID: 32039858
Background: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin gene (TTN)...
9.
Alkhater R, Wang P, Ruggieri A, Israelian L, Walker S, Scherer S, et al.
Ann Clin Transl Neurol
. 2019 Apr;
6(4):807-811.
PMID: 31020005
Mis-secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy. LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive missense mutation predicted to impair the chaperone's interaction with glycoproteins was...
10.
Previtali S, Scarlato M, Vezzulli P, Ruggieri A, Velardo D, Benedetti S, et al.
Muscle Nerve
. 2019 Feb;
59(5):E33-E37.
PMID: 30734317
No abstract available.