MMG PUBLICATIONS

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Results: 2645  publications found.

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.


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.


Barthelemy, 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.


Etchevers, H.  et al. 2011

Primary culture of chick, mouse or human neural crest cells

A highly enriched population of neural crest cells (NCCs) from amniote embryos, such as from chicks, mice and humans, is desirable for experiments in fate determination. NCCs are also useful for...
Nat Protoc - issue: 10 - volume: 6 - pages: 1568-1577.


Bernard, G.  et al. 2011

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of...
Am. J. Hum. Genet. - issue: 3 - volume: 89 - pages: 415-423.


Bernard, G.  et al. 2011

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of...
Am. J. Hum. Genet. - issue: 3 - volume: 89 - pages: 415-423.


Graham, CD.  et al. 2011

A systematic review of quality of life in adults with muscle disease

We reviewed the literature on how muscle disease affects quality of life compared to healthy controls, and the factors that influence the effects of muscle disease on quality of life. We also wanted...
J. Neurol. - issue: 9 - volume: 258 - pages: 1581-1592.


Ahles, A.  et al. 2011

A polymorphism-specific "memory" mechanism in the β(2)-adrenergic receptor

Signaling through G protein (heterotrimeric guanosine triphosphate-binding protein)-coupled receptors is affected by polymorphisms in receptor-encoding genes. Using fluorescence resonance energy...
Sci Signal - issue: 185 - volume: 4 - pages: ra53.


Macé, M.  et al. 2011

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

PURPOSE: To decipher the biological pathways involved in keratoconus pathophysiology by determining the patterns of differential gene expression between keratoconus and control corneas. METHODS: RNA...
Invest Ophthalmol Vis Sci - issue: 9 - volume: 52 - pages: 6181-6191.


Krengel, S.  et al. 2011

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, T

Pigment Cell Melanoma Res - issue: 4 - volume: 24 - pages: E1-6.


Krahn, M.  et al. 2011

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands

Neuromuscul. Disord. - issue: 7 - volume: 21 - pages: 503-512.


Krahn, M.  et al. 2011

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands

Neuromuscul. Disord. - issue: 7 - volume: 21 - pages: 503-512.


Simonet, T.  et al. 2011

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

The study of the proteins that bind to telomeric DNA in mammals has provided a deep understanding of the mechanisms involved in chromosome-end protection. However, very little is known on the binding...
Cell Res. - issue: 7 - volume: 21 - pages: 1028-1038.


Faguer, S.  et al. 2011

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome...
Eur. J. Med. Genet. - issue: 3 - volume: 54 - pages: 310-313.


Panayotis, N.  et al. 2011

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

BACKGROUND: Rett syndrome (RTT, MIM #312750) is a severe neurological disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Female patients are affected with an...
BMC Neurosci - issue: - volume: 12 - pages: 47.


Panayotis, N.  et al. 2011

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

BACKGROUND: Rett syndrome (RTT, MIM #312750) is a severe neurological disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Female patients are affected with an...
BMC Neurosci - issue: - volume: 12 - pages: 47.