Wahbi, K. et al. 2019 Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable... - issue: 4 - volume: 140 - pages: 293-302.
Chandra, G. et al. 2019 Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells - issue: - volume: 5 - pages: .
Chandra, G. et al. 2019 Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells Autosomal recessive mutations in Anoctamin 5 (ANO5/TMEM16E), a member of the transmembrane 16 (TMEM16) family of Ca2+-activated ion channels and phospholipid scramblases, cause adult-onset muscular... - issue: - volume: 5 - pages: .
Gaillard, M. et al. 2019 Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant pathology is associated in 95% of cases... Sci Rep - issue: 1 - volume: 9 - pages: 10327.
Gaillard, M. et al. 2019 Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy - issue: - volume: 9 - pages: .
Gaillard, M. et al. 2019 Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant pathology is associated in 95% of cases... - issue: - volume: 9 - pages: .
Balducci, E. et al. 2019 Extracellular vesicles from T cells overexpress miR-146b-5p in HIV-1 infection and repress endothelial activation - issue: - volume: 9 - pages: .
Balducci, E. et al. 2019 Extracellular vesicles from T cells overexpress miR-146b-5p in HIV-1 infection and repress endothelial activation Human immunodeficiency virus type 1 (HIV-1) infection promotes a generalized activation of host responses that involves not only CD4 T cells, but also cells of the microenvironment, which are not... - issue: - volume: 9 - pages: .
El-Bazzal, L. et al. 2019 Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 - issue: 14 - volume: 28 - pages: 2378-2394.
El-Bazzal, L. et al. 2019 Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the... Hum. Mol. Genet. - issue: 14 - volume: 28 - pages: 2378-2394.
El-Bazzal, L. et al. 2019 Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the... - issue: 14 - volume: 28 - pages: 2378-2394.
El-Bazzal, L. et al. 2019 Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the... Hum. Mol. Genet. - issue: 14 - volume: 28 - pages: 2378-2394.
Kermezli, Y. et al. 2019 A comprehensive catalog of LncRNAs expressed in T-cell acute lymphoblastic leukemia - issue: 8 - volume: 60 - pages: 2002-2014.
Kermezli, Y. et al. 2019 A comprehensive catalog of LncRNAs expressed in T-cell acute lymphoblastic leukemia Several studies have demonstrated that LncRNAs can play major roles in cancer development. The creation of a catalog of LncRNAs expressed in T cell acute lymphoblastic leukemia (T-ALL) is thus of... - issue: 8 - volume: 60 - pages: 2002-2014.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature - issue: 1 - volume: 27 - pages: 246-247.
Piard, J. et al. 2019 Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients - issue: 1 - volume: 27 - pages: 263.
Yauy, K. et al. 2019 Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies - issue: 1 - volume: 27 - pages: 339.
Pujol, P. et al. 2019 Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations - issue: 1 - volume: 27 - pages: 562-563.
Faivre, L. et al. 2019 Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene - issue: 1 - volume: 27 - pages: 795-796.
Greco, A. et al. 2019 Molecular Inverse Comorbidity between Alzheimer's Disease and Lung Cancer: New Insights from Matrix Factorization - issue: 13 - volume: 20 - pages: .