Andrea Mignarri
Overview
Explore the profile of Andrea Mignarri including associated specialties, affiliations and a list of published articles.
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Articles
61
Citations
649
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Recent Articles
1.
Lucchiari S, Fortunato F, Meola G, Mignarri A, Pagliarani S, Corti S, et al.
Front Genet
. 2024 Dec;
15:1486977.
PMID: 39712484
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel...
2.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca M, Barghigiani M, et al.
J Neurol
. 2024 Nov;
271(12):7650-7651.
PMID: 39499281
No abstract available.
3.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca M, Barghigiani M, et al.
J Neurol
. 2024 Jun;
271(8):5478-5488.
PMID: 38886208
Background: Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia. Objective: Here, we aimed to: (1) investigate...
4.
Lopergolo D, Bargagli A, Satolli S, Barghigiani M, Mignarri A, Musumeci O, et al.
Clin Neurophysiol
. 2024 Jan;
158:56-58.
PMID: 38176158
No abstract available.
5.
Lopergolo D, Bianchi S, Gallus G, Locci S, Pucci B, Leoni V, et al.
J Med Genet
. 2023 Nov;
61(4):332-339.
PMID: 37989569
Introduction: mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous mutations may rarely show parkinsonism or dementia. Here, we describe for...
6.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833224
Thanks to advances in gene sequencing, -related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to...
7.
Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, et al.
J Neurol
. 2023 Feb;
270(4):2345-2346.
PMID: 36795150
No abstract available.
8.
Ginanneschi F, Giannini F, Sicurelli F, Battisti C, Capoccitti G, Bartalini S, et al.
Front Neurol
. 2022 Jul;
13:856091.
PMID: 35860488
Background: Clinical presentation, electrophysiological subtype, and outcome of the Guillain-Barre' Syndrome (GBS) may differ between patients from different geographical regions. This study aims to assess clinical-neurophysiological features of an adult,...
9.
Locci S, Nidiaci V, De Stefano N, Leoni V, Mignarri A
Cerebellum
. 2022 Jul;
22(5):1020-1022.
PMID: 35851639
No abstract available.
10.
Locci S, Bianchi S, De Stefano N, Mignarri A
Neurol Sci
. 2022 Jun;
43(10):6091-6093.
PMID: 35750946
Introduction: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder that presents cognitive and movement impairment. To diagnose PFBC, both brain calcium accumulations visible at computed tomography (CT) and...