MMG PUBLICATIONS

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Results: 1693  publications found.

Helmbacher, F.  et al. 2017

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

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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.


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.


Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.


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.


Rambeau, P.  et al. 2017

Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans

Hemodynamic forces have been known for a long time to regulate cardiogenic processes such as cardiac valve development. During embryonic development in vertebrates, the outflow tract (OFT) adjacent to...
Int. J. Cardiol. - issue: - volume: 249 - pages: 340-343.


Rambeau, P.  et al. 2017

Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans

Hemodynamic forces have been known for a long time to regulate cardiogenic processes such as cardiac valve development. During embryonic development in vertebrates, the outflow tract (OFT) adjacent to...
Int J Cardiol - issue: - volume: 249 - pages: 340-343.


Ben Yaou, R.  et al. 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss...
Neurol Genet - issue: 6 - volume: 3 - pages: e208.


Renaud, M.  et al. 2017

A recessive ataxia diagnosis algorithm for the next generation sequencing era

OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype...
Ann. Neurol. - issue: 6 - volume: 82 - pages: 892-899.


Ben Yaou, R.  et al. 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss...
Neurol Genet - issue: 6 - volume: 3 - pages: e208.


Ben Yaou, R.  et al. 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss...
Neurol Genet - issue: 6 - volume: 3 - pages: e208.


Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: 5 - volume: 56 - pages: 993-997.