Edoardo Malfatti
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Explore the profile of Edoardo Malfatti including associated specialties, affiliations and a list of published articles.
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133
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1460
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Recent Articles
1.
Baille G, Severa G, Verebi C, Carlier R, Malfatti E
Acta Myol
. 2025 Feb;
43(4):130-133.
PMID: 40017288
Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular...
2.
Malfatti E, Caramizaru A, Lee H, Kim J, Shoaito H, Pennisi A, et al.
Clin Genet
. 2025 Feb;
PMID: 40000157
Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger-3billion Megaproject End...
3.
Martinez-Esteban P, Sotelo-Munoz M, Severa G, Cortez-Salazar L, Cassandrini D, Urtizberea J, et al.
Neuromuscul Disord
. 2025 Feb;
48:105311.
PMID: 39961270
VMA21-X-Linked related myopathy is a rare neuromuscular disease characterized by a wide phenotypic spectrum ranging from neonatal forms with severe muscular weakness and respiratory failure, to mild childhood or adult-onset...
4.
van Gurp J, Lechner R, Micha D, Maugeri A, Dulfer E, van Dijk F, et al.
Clin Transl Gastroenterol
. 2025 Jan;
PMID: 39807789
Introduction: Classical-like Ehlers-Danlos syndrome type 1 (clEDS1) is a very rare form of Ehlers-Danlos syndrome caused by tenascin-X deficiency, with only 56 individuals reported in medical literature. Tenascin-X is an...
5.
Staedler K, Allenbach Y, Salort-Campana E, Malfatti E, Rigolet A, Attarian S, et al.
Eur J Neurol
. 2025 Jan;
32(1):e70026.
PMID: 39804003
Background: Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described. Objective: To report a newly acquired myopathy associated...
6.
van Kleef E, Bouman K, Molenaar J, Kusters B, Groothuis J, Olive M, et al.
Neurol Genet
. 2024 Dec;
10(6):e200214.
PMID: 39651462
Background And Objectives: Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here...
7.
Severa G, Alfaro M, Alimi Ichola C, Shoaito H, Souvannanorath S, Authier F, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):430.
PMID: 39568039
Background: Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible...
8.
Dofash L, Miles L, Saito Y, Rivas E, Calcinotto V, Oveissi S, et al.
Brain
. 2024 Nov;
PMID: 39531736
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most...
9.
-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, et al.
J Neurol Neurosurg Psychiatry
. 2024 Oct;
PMID: 39448255
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly...
10.
Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy
Taglietti V, Kefi K, Mirciloglu B, Bastu S, Masson J, Bronisz-Budzynska I, et al.
EMBO Rep
. 2024 Oct;
25(11):4898-4920.
PMID: 39358550
Becker muscular dystrophy (BMD) is an X-linked disorder due to in-frame mutations in the DMD gene, leading to a less abundant and truncated dystrophin. BMD is less common and severe...