Julien Faure
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Explore the profile of Julien Faure including associated specialties, affiliations and a list of published articles.
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67
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1785
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Recent Articles
11.
Le Tanno P, Folacci M, Revilloud J, Faivre L, Laurent G, Pinson L, et al.
Front Genet
. 2021 Dec;
12:773177.
PMID: 34899860
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by loss-of-function mutations. However, when extracardiac symptoms are...
12.
Le Tanno P, Latypova X, Rendu J, Faure J, Bourg V, Gauthier M, et al.
J Med Genet
. 2021 Dec;
60(1):13-24.
PMID: 34876503
Introduction: Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the...
13.
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, et al.
Acta Neuropathol Commun
. 2021 Sep;
9(1):155.
PMID: 34535181
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca-dependent muscle contraction. Abnormal RyR1 activity...
14.
Bakri F, Mollin M, Beaumel S, Vigne B, Roux-Buisson N, Al-Wahadneh A, et al.
Front Immunol
. 2021 Mar;
12:639226.
PMID: 33746979
Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes (, and /EROS) encoding the superoxide-producing nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase...
15.
Bauche S, Sureau A, Sternberg D, Rendu J, Buon C, Messeant J, et al.
Neurol Genet
. 2021 Mar;
6(6):e534.
PMID: 33659639
Objective: To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 () gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic...
16.
Egot M, Lasne D, Poirault-Chassac S, Mirault T, Pidard D, Dreano E, et al.
Br J Haematol
. 2021 Feb;
192(5):909-921.
PMID: 33528045
Lowe syndrome (LS) is an oculocerebrorenal syndrome of Lowe (OCRL1) genetic disorder resulting in a defect of the OCRL protein, a phosphatidylinositol-4,5-bisphosphate 5-phosphatase containing various domains including a Rho GTPase-activating...
17.
Chong J, Talbot J, Teets E, Previs S, Martin B, Shively K, et al.
Am J Hum Genet
. 2020 Dec;
107(6):1188-1189.
PMID: 33275912
No abstract available.
18.
Donkervoort S, Kutzner C, Hu Y, Lornage X, Rendu J, Stojkovic T, et al.
Am J Hum Genet
. 2020 Nov;
107(6):1078-1095.
PMID: 33217308
The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten...
19.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, et al.
Acta Neuropathol Commun
. 2020 Nov;
8(1):192.
PMID: 33176865
Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the...
20.
Geraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, et al.
J Med Genet
. 2020 Sep;
58(9):602-608.
PMID: 32994279
Background: Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Methods: Using next-generation sequencing, we identified three patients with pathogenic variants in...