PUBLICATIONS of MMG

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Résultats : 4198  publications trouvées.

Zufferey, F.  et al. 2013

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis,...
Am. J. Med. Genet. A - issue: 7 - volume: 161A - pages: 1786-1791.

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.

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.

Trouillas, J.  et al. 2013

A new prognostic clinicopathological classification of pituitary adenomas: a multicentric case-control study of 410 patients with 8 years post-operative follow-up

Pituitary adenomas are currently classified by histological, immunocytochemical and numerous ultrastructural characteristics lacking unequivocal prognostic correlations. We investigated the prognostic...
Acta Neuropathol. - issue: 1 - volume: 126 - pages: 123-135.

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.

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.

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...
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.