Francesco Zorzato
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Explore the profile of Francesco Zorzato including associated specialties, affiliations and a list of published articles.
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68
Citations
1699
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Recent Articles
1.
Ruiz A, Noreen F, Meier H, Buczak K, Zorzato F, Treves S
Hum Mol Genet
. 2025 Feb;
PMID: 39946277
RYR1-related congenital myopathies are rare disorders that severely impair muscle function and the quality of life of patients and their families. To date no pharmacological therapies are available to treat...
2.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, et al.
J Gen Physiol
. 2024 Mar;
156(4).
PMID: 38445312
RYR1 is the most commonly mutated gene associated with congenital myopathies, a group of early-onset neuromuscular conditions of variable severity. The functional effects of a number of dominant RYR1 mutations...
3.
Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, et al.
Neuromuscul Disord
. 2023 Nov;
33(12):951-963.
PMID: 37996280
Malignant hyperthermia is a pharmacogenetic disorder triggered by halogenated anesthetic agents in genetically predisposed individuals. Approximately 70 % of these individuals carry mutations in RYR1, the gene encoding the ryanodine...
4.
Eckhardt J, Ruiz A, Koenig S, Frieden M, Meier H, Schmidt A, et al.
Elife
. 2023 Mar;
12.
PMID: 36862731
Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as...
5.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Bachmann C, Franchini M, Bersselaar L, Kruijt N, Voermans N, Bouman K, et al.
Brain Commun
. 2022 Oct;
4(5):fcac224.
PMID: 36196089
Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients...
6.
Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, et al.
Elife
. 2022 Mar;
11.
PMID: 35238775
To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital...
7.
Treves S, Girard T, Zorzato F
J Vis Exp
. 2021 Jun;
(172).
PMID: 34180878
More than 700 variants in the RYR1 gene have been identified in patients with different neuromuscular disorders including malignant hyperthermia susceptibility, core myopathies and centronuclear myopathy. Because of the diverse...
8.
Reddish F, Miller C, Deng X, Dong B, Patel A, Ghane M, et al.
iScience
. 2021 Mar;
24(3):102129.
PMID: 33665552
The precise spatiotemporal characteristics of subcellular calcium (Ca) transients are critical for the physiological processes. Here we report a green Ca sensor called "G-CatchER" using a protein design to report...
9.
Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, et al.
J Biol Chem
. 2020 Jun;
295(30):10331-10339.
PMID: 32499372
Mutations in the ryanodine receptor 1 () gene are associated with several human congenital myopathies, including the dominantly inherited central core disease and exercise-induced rhabdomyolysis, and the more severe recessive...
10.
Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, et al.
Hum Mol Genet
. 2020 Apr;
29(8):1330-1339.
PMID: 32242214
Mutations in the RYR1 gene are the most common cause of human congenital myopathies, and patients with recessive mutations are severely affected and often display ptosis and/or ophthalmoplegia. In order...