MMG PUBLICATIONS

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Results: 1708  publications found.

Canron, M.  et al. 2012

Age-dependent α-synuclein aggregation in the Microcebus murinus lemur primate

Since age-dependent deposition of Aβ-amyloid has been reported in the Microcebusmurinus, we posited that this animal could as well be a model of age-related synucleinopathy. We characterized the...
Sci Rep - issue: - volume: 2 - pages: 910.


Galati, A.  et al. 2012

TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS ONE - issue: 4 - volume: 7 - pages: e34386.


Perrin, S.  et al. 2012

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

BACKGROUND: The ANRS EP45 "Aging" study investigates the cellular mechanisms involved in the accelerated aging of HIV-1 infected and treated patients. The present report focuses on lamin A processing,...
PLoS ONE - issue: 12 - volume: 7 - pages: e53035.


Lostal, W.  et al. 2012

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS ONE - issue: 5 - volume: 7 - pages: e38036.


Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.


Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.


Van Vliet, P.  et al. 2012

Early cardiac development: a view from stem cells to embryos

From the 1920s, early cardiac development has been studied in chick and, later, in mouse embryos in order to understand the first cell fate decisions that drive specification and determination of the...
Cardiovasc. Res. - issue: 3 - volume: 96 - pages: 352-362.


Mathers, JC.  et al. 2012

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Background Observational studies report that higher intake of dietary fibre (a heterogeneous mix including non-starch polysaccharides and resistant starches) is associated with reduced risk of...
Lancet Oncol. - issue: 12 - volume: 13 - pages: 1242-1249.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Lemmers, RJLF.  et al. 2012

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more...
Nat. Genet. - issue: 12 - volume: 44 - pages: 1370-1374.


Grandval, P.  et al. 2012

Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

Several studies report an increased risk of breast/pancreatic cancer in MMR (DNA mismatch repair) mutation carriers that has significant consequences on standard cancer screening in such population....
Fam. Cancer - issue: 4 - volume: 11 - pages: 681-683.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Kannan, MA.  et al. 2012

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic...
Neurol India - issue: 6 - volume: 60 - pages: 631-634.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Eyrnard, B.  et al. 2012

Diagnostic strategy for limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive transmission, a minority with dominant...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 919-926.


Van Vliet, P.  et al. 2012

Early cardiac development: a view from stem cells to embryos

From the 1920s, early cardiac development has been studied in chick and, later, in mouse embryos in order to understand the first cell fate decisions that drive specification and determination of the...
Cardiovasc. Res. - issue: 3 - volume: 96 - pages: 352-362.


Lamine, F.  et al. 2012

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best...
Pituitary - issue: - volume: 15 Suppl 1 - pages: S81-86.


De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Horn, M.  et al. 2012

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health...
Brain - issue: Pt 12 - volume: 135 - pages: 3567-3583.