PUBLICATIONS MMG

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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.


Selva-O'Callaghan, A.  et al. 2006

Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially...
Neuromuscul. Disord. - issue: 3 - volume: 16 - pages: 208-209.


Sanlaville, D.  et al. 2006

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.


Saywell, V.  et al. 2006

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Rett syndrome, a neurodevelopmental X-linked disorder, represents the most important genetic cause of severe mental retardation in the female population and results from a mutation in the gene...
Biochem. Biophys. Res. Commun. - issue: 3 - volume: 340 - pages: 776-783.


Bajolle, F.  et al. 2006

Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries

Congenital heart defects frequently involve a failure of outflow tract (OFT) formation during development. We analyzed the remodeling of the OFT, using the y96-Myf5-nlacZ-16 transgene, which marks a...
Circ. Res. - issue: 3 - volume: 98 - pages: 421-428.


Bartoli, M.  et al. 2006

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. To date, no treatment exists...
Mol. Ther. - issue: 2 - volume: 13 - pages: 250-259.


Philippe, C.  et al. 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene...
Eur J Med Genet - issue: 1 - volume: 49 - pages: 9-18.


Bartoli, M.  et al. 2006

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. To date, no treatment exists...
Mol. Ther. - issue: 2 - volume: 13 - pages: 250-259.


Relaix, F.  et al. 2006

Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells

The growth and repair of skeletal muscle after birth depends on satellite cells that are characterized by the expression of Pax7. We show that Pax3, the paralogue of Pax7, is also present in both...
J. Cell Biol. - issue: 1 - volume: 172 - pages: 91-102.


Bartoli, M.  et al. 2006

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies

Muscular dystrophies are a genetically and phenotypically heterogeneous group of degenerative muscle diseases. A subset of them are due to genetic deficiencies in proteins which form the...
Gene Ther. - issue: 1 - volume: 13 - pages: 20-28.