MMG PUBLICATIONS

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Results: 2475  publications found.

Pisani, E.  et al. 2008

Surfactant dependent morphology of polymeric capsules of perfluorooctyl bromide: influence of polymer adsorption at the dichloromethane-water interface

In a strategy to develop more stable ultrasound contrast agents (UCAs), we have designed a process to obtain nano/microcapsules with a single core of liquid perfluorocarbon within a biodegradable...
J Colloid Interface Sci - issue: 1 - volume: 326 - pages: 66-71.


Lequeux, L.  et al. 2008

Confirmation of RAX gene involvement in human anophthalmia

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.


Bahi-Buisson, N.  et al. 2008

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we...
J. Med. Genet. - issue: 10 - volume: 45 - pages: 647-653.


Hamadouche, T.  et al. 2008

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa

CMT2B1, an axonal subtype (MIM 605588) of the Charcot-Marie-Tooth disease, is an autosomal recessive motor and sensory neuropathy characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: Pt 5 - volume: 72 - pages: 590-597.


Urtizberea, JA.  et al. 2008

Dysferlinopathies

Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main...
Neurol India - issue: 3 - volume: 56 - pages: 289-297.


Vigouroux, L.  et al. 2008

Is the principle of minimization of secondary moments validated during various fingertip force production conditions?

During the application of fingertip forces with simultaneous flexion of the four fingers, namely index, middle, ring, and little fingers, a stable force sharing among fingers is adopted. Several...
Hum Mov Sci - issue: 3 - volume: 27 - pages: 396-407.


Vigouroux, L.  et al. 2008

Middle and ring fingers are more exposed to pulley rupture than index and little during sport-climbing: a biomechanical explanation

BACKGROUND: Finger pulley injury is a common incident observed during sport-climbing. The total rupture of one or several pulleys is highly debilitating and requires surgical reconstruction and/or...
Clin Biomech (Bristol, Avon) - issue: 5 - volume: 23 - pages: 562-570.


Bartoli, M.  et al. 2008

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice...
Hum. Mol. Genet. - issue: 9 - volume: 17 - pages: 1214-1221.


Benayoun, B.  et al. 2008

NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting. We previously...
FASEB J. - issue: 5 - volume: 22 - pages: 1521-1529.


Benayoun, B.  et al. 2008

NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting. We previously...
Faseb J. - issue: 5 - volume: 22 - pages: 1521-1529.


Bartoli, M.  et al. 2008

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice...
Hum. Mol. Genet. - issue: 9 - volume: 17 - pages: 1214-1221.


Bajolle, F.  et al. 2008

[Haemodynamic induces aortic arch asymmetry]

Med Sci (Paris) - issue: 4 - volume: 24 - pages: 354-356.


Bringoux, L.  et al. 2008

Judging beforehand the possibility of passing under obstacles without motion: the influence of egocentric and geocentric frames of reference

Previous studies have shown that the perception of the earth-based visual horizon, also named Gravity Referenced Eye Level (GREL), is modified by body tilt around a trans-ocular axis. Here, we...
Exp Brain Res - issue: 4 - volume: 185 - pages: 673-680.


Galli, D.  et al. 2008

Atrial myocardium derives from the posterior region of the second heart field, which acquires left-right identity as Pitx2c is expressed

Splanchnic mesoderm in the region described as the second heart field (SHF) is marked by Islet1 expression in the mouse embryo. The anterior part of this region expresses a number of markers,...
Development - issue: 6 - volume: 135 - pages: 1157-1167.


Ryckebusch, L.  et al. 2008

Retinoic acid deficiency alters second heart field formation

Retinoic acid (RA), the active derivative of vitamin A, has been implicated in various steps of cardiovascular development. The retinaldehyde dehydrogenase 2 (RALDH2) enzyme catalyzes the second...
Proc. Natl. Acad. Sci. U.S.A. - issue: 8 - volume: 105 - pages: 2913-2918.


Manni, F.  et al. 2008

Do surname differences mirror dialect variation?

Our focus in this paper is the analysis of surnames, which have been proven to be reliable genetic markers because in patrilineal systems they are transmitted along generations virtually unchanged,...
Hum. Biol. - issue: 1 - volume: 80 - pages: 41-64.


Ottaviani, A.  et al. 2008

Telomeric position effect: from the yeast paradigm to human pathologies?

Alteration of the epigenome is associated with a wide range of human diseases. Therefore, deciphering the pathways that regulate the epigenetic modulation of gene expression is a major milestone for...
Biochimie - issue: 1 - volume: 90 - pages: 93-107.


Bajolle, F.  et al. 2008

Myocardium at the base of the aorta and pulmonary trunk is prefigured in the outflow tract of the heart and in subdomains of the second heart field

Outflow tract myocardium in the mouse heart is derived from the anterior heart field, a subdomain of the second heart field. We have recently characterized a transgene (y96-Myf5-nlacZ-16), which is...
Dev. Biol. - issue: 1 - volume: 313 - pages: 25-34.


Viola, A.  et al. 2007

Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

BACKGROUND: Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such...
PLoS ONE - issue: 1 - volume: 2 - pages: e157.


Danièle, N.  et al. 2007

Ins and outs of therapy in limb girdle muscular dystrophies

Muscular dystrophies are hereditary degenerative muscle diseases that cause life-long disability in patients. They comprise the well-known Duchenne Muscular Dystrophy (DMD) but also the group of Limb...
Int. J. Biochem. Cell Biol. - issue: 9 - volume: 39 - pages: 1608-1624.