MMG PUBLICATIONS

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Results: 2478  publications found.

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: .


Benoit, S.  et al. 2019

Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

- issue: 1, SI - volume: 26 - pages: 325.


Piard, J.  et al. 2019

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

- issue: 7 - volume: 21 - pages: 1667.