Chatonnet, A. et al. 2019 An evolutionary perspective on the first disulfide bond in members of the cholinesterase-carboxylesterase (COesterase) family: Possible outcomes for cholinesterase expression in prokaryotes Within the alpha/beta hydrolase fold superfamily of proteins, the COesterase group (carboxylesterase type B, block C, cholinesterases ...) diverged from the other groups through simultaneous... - issue: - volume: 308 - pages: 179-184.
Theraulaz, G. et al. 2019 In memoriam Jacques Gervet (1934-2018) - issue: 3 - volume: 66 - pages: 501-502.
Fabre, A. et al. 2019 Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review BACKGROUND: Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) germline mutations have been recently described. A comprehensive overview of this early-onset multiorgan... - issue: 6 - volume: 7 - pages: 1958+.
Florea, SM. et al. 2019 Ophthalmoplegic complications in transsphenoidal pituitary surgery. OBJECTIVE: Ophthalmoplegia is a rare complication of transsphenoidal surgery, only noted in a few studies. The purpose of this study was to analyze the complications of cranial nerve III, IV, or VI... J Neurosurg - issue: - volume: - pages: 1-9.
Wahbi, K. et al. 2019 Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies - issue: 4 - volume: 140 - pages: 293-302.
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.