PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Mathew, SJ.  et al. 2011

Connective tissue fibroblasts and Tcf4 regulate myogenesis

Muscle and its connective tissue are intimately linked in the embryo and in the adult, suggesting that interactions between these tissues are crucial for their development. However, the study of...
Development - issue: 2 - volume: 138 - pages: 371-384.

Boutin, A.  et al. 2010

On the cognitive processes underlying contextual interference: Contributions of practice schedule, task similarity and amount of practice

This experiment was designed to assess the combined influence of practice schedule (blocked or random), task similarity (similar or dissimilar), and amount of practice on motor learning. Participants...
Hum Mov Sci - issue: 6 - volume: 29 - pages: 910-920.

Medioni, C.  et al. 2010

Expression of Slit and Robo genes in the developing mouse heart

Development of the mammalian heart is mediated by complex interactions between myocardial, endocardial, and neural crest-derived cells. Studies in Drosophila have shown that the Slit-Robo signaling...
Dev. Dyn. - issue: 12 - volume: 239 - pages: 3303-3311.

Neul, JL.  et al. 2010

Rett syndrome: revised diagnostic criteria and nomenclature

OBJECTIVE: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2...
Ann. Neurol. - issue: 6 - volume: 68 - pages: 944-950.

Cacciagli, P.  et al. 2010

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced...
Eur. J. Hum. Genet. - issue: 12 - volume: 18 - pages: 1360-1363.

Rochais, F.  et al. 2010

Acute cardiac effects of neuregulin-1/ErbB signalling

Cardiovasc. Res. - issue: 3 - volume: 88 - pages: 393-394.

Rochais, F.  et al. 2010

Acute cardiac effects of neuregulin-1/ErbB signalling

Cardiovasc Res - issue: 3 - volume: 88 - pages: 393-394.

Endele, S.  et al. 2010

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly...
Nat. Genet. - issue: 11 - volume: 42 - pages: 1021-1026.

Bahi-Buisson, N.  et al. 2010

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and...
Brain - issue: 11 - volume: 133 - pages: 3194-3209.

Bourrelly, A.  et al. 2010

Pitch body orientation influences the perception of self-motion direction induced by optic flow

We studied the effect of static pitch body tilts on the perception of self-motion direction induced by a visual stimulus. Subjects were seated in front of a screen on which was projected a 3D cluster...
Neurosci. Lett. - issue: 3 - volume: 482 - pages: 193-197.

Nicolas, E.  et al. 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated...
Eur. J. Hum. Genet. - issue: 10 - volume: 18 - pages: 1107-1113.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.

Nicolas, E.  et al. 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated...
Eur. J. Hum. Genet. - issue: 10 - volume: 18 - pages: 1107-1113.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.

Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Nicolas, E.  et al. 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated...
Eur. J. Hum. Genet. - issue: 10 - volume: 18 - pages: 1107-1113.

Nicolas, E.  et al. 2010

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated...
Eur. J. Hum. Genet. - issue: 10 - volume: 18 - pages: 1107-1113.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.

Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-kappa B pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein ( CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.