MMG PUBLICATIONS

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Results: 2478  publications found.

Medlej-Hashim, M.  et al. 2011

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was...
Eur J Med Genet - issue: 1 - volume: 54 - pages: 50-54.


Panayotis, N.  et al. 2011

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene, in which older patients often develop parkinsonian features. Although Mecp2 has been shown to modulate the...
Neurobiol. Dis. - issue: 2 - volume: 41 - pages: 385-397.


Sleimen-Malkoun, R.  et al. 2011

Bimanual training in stroke: How do coupling and symmetry-breaking matter?

BACKGROUND: The dramatic consequences of stroke on patient autonomy in daily living activities urged the need for new reliable therapeutic strategies. Recently, bimanual training has emerged as a...
BMC Neurol - issue: - volume: 11 - pages: 11.


Wilkie, GS.  et al. 2011

Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations

Nuclear envelopes from liver and a neuroblastoma cell line have previously been analyzed by proteomics; however, most diseases associated with the nuclear envelope affect muscle. To determine whether...
Mol. Cell Proteomics - issue: 1 - volume: 10 - pages: M110.003129.


Pratte, M.  et al. 2011

Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice

The methyl-CpG binding protein 2 (Mecp2) gene encodes a nuclear transcriptional modulator highly expressed in post-mitotic neurons. Mutations of this gene cause a large spectrum of neurological...
Behav. Brain Res. - issue: 1 - volume: 216 - pages: 313-320.


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.


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.


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.