MMG PUBLICATIONS

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Results: 3193  publications found.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Mégarbané, A.  et al. 2011

[Is good genetic counseling possible with good ethical principals?]

A good genetic counseling, followed by appropriate examinations, sometimes requires the participation of any family members--parents, grandparents, aunts, uncles, cousins--thus leading to accurate...
J Med Liban - issue: 1 - volume: 59 - pages: 23-26.

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.

Chouery, E.  et al. 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic...
Neurogenetics - issue: 1 - volume: 12 - pages: 73-78.

Chouery, E.  et al. 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic...
Neurogenetics - issue: 1 - volume: 12 - pages: 73-78.

Bruyneel, A.  et al. 2011

Idiopathic scoliosis: relations between the Cobb angle and the dynamical strategies when sitting on a seesaw

The aim of this study was to determine the influence of the severity of the spinal curve on the postural regulation when self-imposed disturbances occur in a seated position in anteroposterior (AP)...
Eur Spine J - issue: 2 - volume: 20 - pages: 247-253.

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.

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.

Rochais, F.  et al. 2010

Acute cardiac effects of neuregulin-1/ErbB signalling

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