Julien Faure
Overview
Explore the profile of Julien Faure including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
67
Citations
1785
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Tourel A, Reynaud-Dulaurier R, Brocard J, Faure J, Marty I, Petiot A
Cells
. 2025 Feb;
14(3).
PMID: 39936950
The RyR1 calcium release channel is a key player in skeletal muscle excitation-contraction coupling. Mutations in the gene are associated with congenital myopathies. Recently, a role of RyR1 in myotubes...
2.
Reynaud Dulaurier R, Brocard J, Rendu J, Debbah N, Faure J, Marty I
Med Sci (Paris)
. 2024 Nov;
40 Hors série n° 1:30-33.
PMID: 39555874
Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify...
3.
Beaufils M, Melka M, Brocard J, Benoit C, Debbah N, Mamchaoui K, et al.
Mol Ther Nucleic Acids
. 2024 Jul;
35(3):102259.
PMID: 39071953
More than 700 pathogenic or probably pathogenic variations have been identified in the gene causing various myopathies collectively known as "-related myopathies." There is no treatment for these myopathies, and...
4.
Dabaj I, Carlier R, Dieterich K, Desguerre I, Faure J, Romero N, et al.
Front Genet
. 2023 Mar;
13:955041.
PMID: 36968005
Sheldon-Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and...
5.
Saffari A, Lau T, Tajsharghi H, Karimiani E, Kariminejad A, Efthymiou S, et al.
Brain
. 2023 Feb;
146(8):3273-3288.
PMID: 36757831
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic...
6.
Rouxel F, Faure J, Faure J, Deschamps F, Burlet G, Flandrin A, et al.
Heliyon
. 2022 Dec;
8(12):e12210.
PMID: 36568675
Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and...
7.
Marty I, Beaufils M, Faure J, Rendu J
Curr Opin Pharmacol
. 2022 Dec;
68:102330.
PMID: 36529094
Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and...
8.
Chivet M, McCluskey M, Nicot A, Brocard J, Beaufils M, Giovannini D, et al.
J Gen Physiol
. 2022 Nov;
155(1).
PMID: 36409218
The expression of the Huntingtin protein, well known for its involvement in the neurodegenerative Huntington's disease, has been confirmed in skeletal muscle. The impact of HTT deficiency was studied in...
9.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, et al.
Mol Genet Genomics
. 2022 Aug;
297(6):1601-1613.
PMID: 36002593
Hereditary neurological disorders (HNDs) are a clinically and genetically heterogeneous group of disorders. These disorders arise from the impaired function of the central or peripheral nervous system due to aberrant...
10.
Labasse C, Brochier G, Taratuto A, Cadot B, Rendu J, Monges S, et al.
Acta Neuropathol Commun
. 2022 Jul;
10(1):101.
PMID: 35810298
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and...