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Gene therapies for RyR1-related myopathies

Current opinion in pharmacology, 2023-02, Vol.68, p.102330-102330, Article 102330

2023

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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Nature communications, 2018-02, Vol.9 (1), p.686-18, Article 686

2018

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Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

Journal of the American Society of Nephrology, 2016-12, Vol.27 (12), p.3539-3544

2016

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Rocket dust storms and detached dust layers in the Martian atmosphere

Journal of geophysical research. Planets, 2013-04, Vol.118 (4), p.746-767

2013

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Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains

Molecular biology of the cell, 2020-02, Vol.31 (4), p.261-272

2020

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Thermodynamics of the dead-zone inner edge in protoplanetary disks

Astronomy and astrophysics (Berlin), 2014-04, Vol.564, p.np-np

2014

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Human molecular genetics, 2012-06, Vol.21 (12), p.2759-2767

2012

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The Explosion Mechanism of Core-Collapse Supernovae: Progress in Supernova Theory and Experiments

Publications of the Astronomical Society of Australia, 2015-01, Vol.32, p.np-np, Article e009

2015

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Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Journal of medical genetics, 2023-01, Vol.60 (1), p.13

2023

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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

Molecular therapy, 2020-01, Vol.28 (1), p.171-179

2020

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A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect

Neuromuscular disorders : NMD, 2019-01, Vol.29 (1), p.75-79

2019

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3160-3170

2014

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Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells

Journal of cell science, 2016-10, Vol.129 (20), p.3744-3755

2016

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ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer

Lung cancer (Amsterdam, Netherlands), 2018-02, Vol.116, p.15-24

2018

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Endosome-to-cytosol transport of viral nucleocapsids

Nature cell biology, 2005-07, Vol.7 (7), p.653-664

2005

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Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Heliyon, 2022-12, Vol.8 (12), p.e12210, Article e12210

2022

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Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Journal of medical genetics, 2021-09, Vol.58 (9), p.602

2021

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Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

Frontiers in immunology, 2021-03, Vol.12, p.639226-639226

2021

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Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.207-212

2020

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Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation

Molecular therapy. Nucleic acids, 2024-09, Vol.35 (3), p.102259, Article 102259

2024

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Frontiers in genetics, 2021-11, Vol.12, p.773177-773177

2021

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Admirer en fermant les yeux : la réception critique de l’œuvre de F. Holland Day à Paris en 1901

Images re-vues, 2020-09, Vol.17 (17)

Faure-Conorton, Julien

2020

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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Frontiers in genetics, 2023-03, Vol.13, p.955041-955041

2023

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Gene therapies for RyR1-related myopathies

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

Rocket dust storms and detached dust layers in the Martian atmosphere

Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains

Thermodynamics of the dead-zone inner edge in protoplanetary disks

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

The Explosion Mechanism of Core-Collapse Supernovae: Progress in Supernova Theory and Experiments

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells

ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer

Endosome-to-cytosol transport of viral nucleocapsids

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq

Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene

Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Admirer en fermant les yeux : la réception critique de l’œuvre de F. Holland Day à Paris en 1901

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

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