PUBLICATIONS of MMG

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Habeler, W.  et al. 2011

Direct myocardial implantation of human embryonic stem cells in a dog model of Duchenne cardiomyopathy reveals poor cell survival in dystrophic tissue

Duchenne muscular dystrophy is characterized by progressive muscle weakness and early death resulting from dystrophin deficiency. Spontaneous canine muscular disorders are interesting settings to...
J Stem Cells Regen Med - issue: 2 - volume: 7 - pages: 80-86.

Diman, NYS.  et al. 2011

A retinoic acid responsive Hoxa3 transgene expressed in embryonic pharyngeal endoderm, cardiac neural crest and a subdomain of the second heart field

A transgenic mouse line harbouring a β-galacdosidase reporter gene controlled by the proximal 2 kb promoter of Hoxa3 was previously generated to investigate the regulatory cues governing Hoxa3...
PLoS ONE - issue: 11 - volume: 6 - pages: e27624.

Molina, L.  et al. 2011

Analysis of the variability of human normal urine by 2D-GE reveals a "public" and a "private" proteome

The characterization of the normal urinary proteome is steadily progressing and represents a major interest in the assessment of clinical urinary biomarkers. To estimate quantitatively the variability...
J Proteomics - issue: 1 - volume: 75 - pages: 70-80.

Motley, WW.  et al. 2011

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in...
PLoS Genet. - issue: 12 - volume: 7 - pages: e1002399.

Laue, K.  et al. 2011

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include...
Am J Hum Genet - issue: 5 - volume: 89 - pages: 595-606.

Mamchaoui, K.  et al. 2011

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

BACKGROUND: Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts. Isolation of...
Skelet Muscle - issue: - volume: 1 - pages: 34.

Rouleau, M.  et al. 2011

TAp63 is important for cardiac differentiation of embryonic stem cells and heart development

p63, a member of the p53 family, is essential for skin morphogenesis and epithelial stem cell maintenance. Here, we report an unexpected role of TAp63 in cardiogenesis. p63 null mice exhibit severe...
Stem Cells - issue: 11 - volume: 29 - pages: 1672-1683.

Uezumi, A.  et al. 2011

Fibrosis and adipogenesis originate from a common mesenchymal progenitor in skeletal muscle

Accumulation of adipocytes and collagen type-I-producing cells (fibrosis) is observed in muscular dystrophies. The origin of these cells had been largely unknown, but recently we identified...
J. Cell. Sci. - issue: Pt 21 - volume: 124 - pages: 3654-3664.

Krahn, M.  et al. 2011

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clin. Genet. - issue: 4 - volume: 80 - pages: 398-402.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Krahn, M.  et al. 2011

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clin. Genet. - issue: 4 - volume: 80 - pages: 398-402.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Rouleau, M.  et al. 2011

[Unexpected role for p63 during heart development: one phenotype can hide another one]

Med Sci (Paris) - issue: 10 - volume: 27 - pages: 905-909.

Barthélémy, F.  et al. 2011

Translational research and therapeutic perspectives in dysferlinopathies

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with...
Mol. Med. - issue: 9-10 - volume: 17 - pages: 875-882.

Krahn, M.  et al. 2011

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Clin. Genet. - issue: 4 - volume: 80 - pages: 398-402.

Milh, M.  et al. 2011

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

PURPOSE: STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset...
Epilepsia - issue: 10 - volume: 52 - pages: 1828-1834.