MMG PUBLICATIONS

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Results: 2478  publications found.

Roux, J.  et al. 2007

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

Rett syndrome (RS) is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein2 (MECP2) gene. No effective treatment exists. We previously showed...
Eur. J. Neurosci. - issue: 7 - volume: 25 - pages: 1915-1922.


Prall, OWJ.  et al. 2007

An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

During heart development the second heart field (SHF) provides progenitor cells for most cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that feedback repression of Bmp2/Smad1...
Cell - issue: 5 - volume: 128 - pages: 947-959.


Huang, Y.  et al. 2007

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair. To gain...
FASEB J. - issue: 3 - volume: 21 - pages: 732-742.


Milic, A.  et al. 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromuscul. Disord. - issue: 2 - volume: 17 - pages: 148-156.


Milic, A.  et al. 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromusc. Disord. - issue: 2 - volume: 17 - pages: 148-156.


Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.


Fougerousse, F.  et al. 2007

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.


Stefanovic, S.  et al. 2007

Oct-3/4: not just a gatekeeper of pluripotency for embryonic stem cell, a cell fate instructor through a gene dosage effect.

Oct-3/4 encoded by Pou5f1 has been longwise recognised as a gatekeeper for embryonic stem (ES) cell pluripotency. Recently, it was suggested that Oct-3/4 one of the earliest transcription factor of...
Cell Cycle - issue: 1 - volume: 6 - pages: 8-10.


Fougerousse, F.  et al. 2007

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.


Jaiswal, JK.  et al. 2007

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect

Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor...
Traffic - issue: 1 - volume: 8 - pages: 77-88.


Etchevers, HC.  et al. 2006

Molecular bases of human neurocristopathies

Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.


Bartoli, M.  et al. 2006

A mouse model for monitoring calpain activity under physiological and pathological conditions

Calpains are Ca(2+)-dependent cysteine proteases known to be important for the regulation of cell functions and which aberrant activation causes cell death in a number of degenerative disorders. To...
J. Biol. Chem. - issue: 51 - volume: 281 - pages: 39672-39680.


Bartoli, M.  et al. 2006

A mouse model for monitoring calpain activity under physiological and pathological conditions

Calpains are Ca2+-dependent cysteine proteases known to be important for the regulation of cell functions and which aberrant activation causes cell death in a number of degenerative disorders. To...
J. Biol. Chem. - issue: 51 - volume: 281 - pages: 39672-39680.


Golzio, C.  et al. 2006

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.


Zaffran, S.  et al. 2006

Cardioblast-intrinsic Tinman activity controls proper diversification and differentiation of myocardial cells in Drosophila

The NK homeobox gene tinman (tin) is required for the specification of the cardiac, visceral muscle and somatic muscle progenitors in the early dorsal mesoderm of Drosophila. Like its vertebrate...
Development - issue: 20 - volume: 133 - pages: 4073-4083.


Seburn, KL.  et al. 2006

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is caused by dominant point mutations in the gene GARS, encoding glycyl tRNA synthetase (GlyRS). Here we report a...
Neuron - issue: 6 - volume: 51 - pages: 715-726.


Duguez, S.  et al. 2006

Calpain 3: a key regulator of the sarcomere?

Calpain 3 is a 94-kDa calcium-dependent cysteine protease mainly expressed in skeletal muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the giant protein,...
FEBS J. - issue: 15 - volume: 273 - pages: 3427-3436.


Duguez, S.  et al. 2006

Calpain 3: a key regulator of the sarcomere?

Calpain 3 is a 94-kDa calcium-dependent cysteine protease mainly expressed in skeletal muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the giant protein,...
FEBS J. - issue: 15 - volume: 273 - pages: 3427-3436.


Marguerie, A.  et al. 2006

Congenital heart defects in Fgfr2-IIIb and Fgf10 mutant mice

OBJECTIVE: Myocardial progenitor cells expressing Fgf10 give rise to the outflow tract and right ventricle of the mammalian heart. In order to define the role of fibroblast growth factor (FGF)...
Cardiovasc. Res. - issue: 1 - volume: 71 - pages: 50-60.


Bienvenu, T.  et al. 2006

The incidence of Rett syndrome in France

Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome...
Pediatr. Neurol. - issue: 5 - volume: 34 - pages: 372-375.