MMG PUBLICATIONS

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Results: 2278  publications found.

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.


van Eif, VW. W.  et al. 2019

Gradual differentiation and confinement of the cardiac conduction system as indicated by marker gene expression

The components of the cardiac conduction system, responsible for coordinated activation of the heart chambers, are well defined and their cells differ in gene expression profile and phenotype from...
- issue: - volume: - pages: .


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.