MMG PUBLICATIONS

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Results: 3220  publications found.

Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

Pimentel, MR.  et al. 2017

In Vitro Differentiation of Mature Myofibers for Live Imaging

Skeletal muscles are composed of myofibers, the biggest cells in the mammalian body and one of the few syncytia. How the complex and evolutionarily conserved structures that compose it are assembled...
J Vis Exp - issue: 119 - volume: - pages: .

Wang, W.  et al. 2017

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity...
PLoS ONE - issue: 1 - volume: 12 - pages: e0169878.

Defour, A.  et al. 2017

Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle

Repair of skeletal muscle after sarcolemmal damage involves dysferlin and dysferlin-interacting proteins such as annexins. Mice and patient lacking dysferlin exhibit chronic muscle inflammation and...
Hum. Mol. Genet. - issue: 11 - volume: 26 - pages: 1979-1991.

Elkhatib, RA.  et al. 2017

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with...
Hum. Mol. Genet. - issue: 16 - volume: 26 - pages: 3167-3171.

Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

Helmbacher, F.  et al. 2017

The Fat1 cadherin drives a feed-forward mechanism coupling muscle morphogenesis with neuronal fate specification.

- issue: - volume: - pages: .

Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.

Kaspi, E.  et al. 2017

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status

The type V intermediate filament lamins are the principal components of the nuclear matrix, including the nuclear lamina. Lamins are divided into A-type and B-type, which are encoded by three genes,...
PLoS ONE - issue: 8 - volume: 12 - pages: e0183136.

Wang, W.  et al. 2017

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity...
PLoS ONE - issue: 1 - volume: 12 - pages: e0169878.

Harhouri, K.  et al. 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A-type lamins. Progerin, a truncated and toxic...
EMBO Mol Med - issue: 9 - volume: 9 - pages: 1294-1313.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Jallades, L.  et al. 2017

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

Splenic diffuse red pulp lymphoma is an indolent small B-cell lymphoma recognized as a provisional entity in the World Health Organization 2008 classification. Its precise relationship to other...
Haematologica - issue: 10 - volume: 102 - pages: 1758-1766.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Simoncini, S.  et al. 2017

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and...
Sci Rep - issue: 1 - volume: 7 - pages: 8277.

Harhouri, K.  et al. 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A-type lamins. Progerin, a truncated and toxic...
EMBO Mol Med - issue: 9 - volume: 9 - pages: 1294-1313.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.