MMG PUBLICATIONS

Use the tool below to browse our publications by keywords or/and by team or/and by year.

Follow then the link to consult a publication on PUBMED website.



Search publications





Results: 3193  publications found.

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.

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, Tübingen

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

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.

Bertrand, N.  et al. 2011

Hox genes define distinct progenitor sub-domains within the second heart field

Much of the heart, including the atria, right ventricle and outflow tract (OFT) is derived from a progenitor cell population termed the second heart field (SHF) that contributes progressively to the...
Dev. Biol. - issue: 2 - volume: 353 - pages: 266-274.

Vernengo, L.  et al. 2011

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from...
Neuromuscul. Disord. - issue: 5 - volume: 21 - pages: 328-337.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

Mégarbané, A.  et al. 2011

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The...
Am. J. Med. Genet. A - issue: 5 - volume: 155A - pages: 1147-1151.

Ortolano, S.  et al. 2011

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage...
Neuromuscul. Disord. - issue: 4 - volume: 21 - pages: 254-262.

Merono, F.  et al. 2011

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode

OBJECTIVES: The analytical performances of a new kit conceived for Hb variants separation and measurement procedures on an HPLC instrument (Tosoh HLC-723 G8) were studied. RESULTS: Between-run and...
Clin. Biochem. - issue: 5-6 - volume: 44 - pages: 441-443.

Ravel, A.  et al. 2011

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some...
Am. J. Med. Genet. A - issue: 4 - volume: 155A - pages: 880-884.