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Serenella Servidei

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Articles 139
Citations 1635
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Recent Articles
1.
Yan Y, Antolin N, Zhou L, Xu L, Vargas I, Gomez C, et al.
Nature . 2024 Dec; 637(8046):698-707. PMID: 39633045
The stretch reflex is a fundamental component of the motor system that orchestrates the coordinated muscle contractions underlying movement. At the heart of this process lie the muscle spindles (MS),...
2.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes G, Falk M, et al.
Orphanet J Rare Dis . 2024 Nov; 19(1):431. PMID: 39574155
Background: As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However,...
3.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, et al.
Brain . 2024 Nov; PMID: 39499670
Background: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease due to mutations in the DMD gene, leading to a deficient and less functional dystrophin mainly in skeletal and cardiac...
4.
Cicchinelli M, Primiano G, Servidei S, Ardito M, Percio A, Urbani A, et al.
Int J Mol Sci . 2024 Oct; 25(19). PMID: 39409059
The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders....
5.
Sottani C, Di Lazzaro G, Calabresi P, Pomponi M, Tiziano F, Bentivoglio A, et al.
Headache . 2024 Sep; 65(2):377-381. PMID: 39345003
Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and...
6.
Luigetti M, Vitali F, Romano A, Sciarrone M, Guglielmino V, Ardito M, et al.
Sci Rep . 2024 Aug; 14(1):18281. PMID: 39112608
Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive, multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are needed to allow early diagnosis and to monitor disease severity and...
7.
Dono F, Evangelista G, Rodorigo D, Rollo E, Romozzi M, Corniello C, et al.
Epilepsy Behav . 2024 Aug; 159():109951. PMID: 39111103
Introduction: Status Epilepticus (SE) can occur in patients without a previous epilepsy diagnosis, a condition identified as "new-onset status epilepticus" (NOSE). Treatment with benzodiazepine may fail in NOSE termination, requiring...
8.
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...
9.
Lillo R, Meucci M, Malara S, Primiano G, Servidei S, Lombardo A, et al.
Mitochondrion . 2024 Jul; 78:101940. PMID: 39047899
Background: Evidence about early cardiac mechanics abnormalities in patients with mitochondrial diseases (MDs) before overt cardiomyopathy is limited. Methods: In this prospective study, we performed a comparative analysis of conventional...
10.
Manzoni E, Carli S, Gaignard P, Schlieben L, Hirano M, Ronchi D, et al.
Brain Commun . 2024 May; 6(3):fcae160. PMID: 38756539
Autosomal recessive pathogenetic variants in the gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically,...