PUBLICATIONS of MMG

Veuillez utiliser l'outil ci-dessous pour consulter nos publications par mots clés et/ou par équipe et/ou par année.

Suivez les liens pour consulter les publications sur le site de PubMed.



Rechercher une publication





Résultats : 3220  publications trouvées.

Temprado, J.  et al. 2013

Aging of sensorimotor processes: a systematic study in Fitts' task

Though age-related decrease in information-processing capacities is hypothesized to be a prominent cause of behavioral slowing, it has been scarcely systematically studied in goal-directed motor...
Exp Brain Res - issue: 1 - volume: 228 - pages: 105-116.


Boubaker, C.  et al. 2013

A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: - volume: 77 - pages: 336-343.


Boubaker, C.  et al. 2013

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal...
Ann. Hum. Genet. - issue: 4 - volume: 77 - pages: 336-343.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Grandval, P.  et al. 2013

Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance

WOS:000319278500016
Hum. Mutat. - issue: 6 - volume: 34 - pages: 920-922.


Grandval, P.  et al. 2013

Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance

Hum. Mutat. - issue: 6 - volume: 34 - pages: 920-922.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Neri, M.  et al. 2013

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

Limb girdle muscular dystrophy 2H is a rare autosomal recessive muscular dystrophy, clinically highly variable, caused by mutations in the TRIM32 gene. Here we describe a 35-years-old who experienced...
Neuromusc. Disord. - issue: 6 - volume: 23 - pages: 478-482.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Milh, M.  et al. 2013

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

Early-onset epileptic encephalopathies (EOEEs) are a group of rare devastating epileptic syndromes of infancy characterized by severe drug-resistant seizures and electroencephalographic abnormalities....
Hum. Mutat. - issue: 6 - volume: 34 - pages: 869-872.


Caruso, N.  et al. 2013

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Caruso, N.  et al. 2013

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Linssen, WHJP.  et al. 2013

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

Background and purpose To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD). Methods A long-term clinical follow-up study was...
Eur. J. Neurol. - issue: 6 - volume: 20 - pages: 968-974.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milano, G.  et al. 2013

A French multifactorial prospective study of tumor protein and genetic markers in stage I-III colorectal cancer (CRC): Highlight on molecular characteristics related to mismatch repair (MMR) status

WOS:000335419601331
J. Clin. Oncol. - issue: 15 - volume: 31 - pages: .