PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Jerath, NU.  et al. 2015

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Inherited peripheral neuropathies, like many other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than...
Biochim. Biophys. Acta - issue: 4 - volume: 1852 - pages: 667-678.

Bartoli, M.  et al. 2015

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients (vol 50, pg 1007, 2014)

Muscle Nerve - issue: 4 - volume: 51 - pages: 628-628.

Nissenkorn, A.  et al. 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database

OBJECTIVE: Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and...
Epilepsia - issue: 4 - volume: 56 - pages: 569-576.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Attarian, S.  et al. 2015

Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

INTRODUCTION: A difficult clinical situation occurs when a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patient does not fulfill any of the diagnostic criteria. Moreover, nerve...
Muscle Nerve - issue: 4 - volume: 51 - pages: 541-548.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Puppo, F.  et al. 2015

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N<10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated as...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Sibertin-Blanc, C.  et al. 2015

Vascular Endothelial Growth Factor A c.*237C > T polymorphism is associated with bevacizumab efficacy and related hypertension in metastatic colorectal cancer

Background: No predictive marker has been yet identified for bevacizumab which is widely used in metastatic colorectal cancer. Aims: Evaluate impact of single nucleotide polymorphisms involved in...
Dig. Liver Dis. - issue: 4 - volume: 47 - pages: 331-337.

Sevy, A.  et al. 2015

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

J. Neurol. Neurosurg. Psychiatr. - issue: - volume: - pages: .

Le-Bail, P.  et al. 2015

Trapping by amylose of the aliphatic chain grafted onto chlorogenic acid: importance of the graft position

5-Caffeoylquinic acid (chlorogenic acid), is classified in acid-phenols family and as polyphenolic compounds it possesses antioxidant activity. The oxydative modification of chlorogenic acid in foods...
Carbohydr Polym - issue: - volume: 117 - pages: 910-916.

Le-Bail, P.  et al. 2015

Trapping by amylose of the aliphatic chain grafted onto chlorogenic acid: importance of the graft position

5-Caffeoylquinic acid (chlorogenic acid), is classified in acid-phenols family and as polyphenolic compounds it possesses antioxidant activity. The oxydative modification of chlorogenic acid in foods...
Carbohydr Polym - issue: - volume: 117 - pages: 910-916.

Elkhatib, R.  et al. 2015

Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. There is mounting evidence that the NL plays a...
Mol. Hum. Reprod. - issue: 3 - volume: 21 - pages: 225-236.

Poulat, A.  et al. 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented...
Epilepsy Res. - issue: - volume: 111 - pages: 72-77.

Poulat, A.  et al. 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented...
Epilepsy Res. - issue: - volume: 111 - pages: 72-77.

Poulat, A.  et al. 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented...
Epilepsy Res. - issue: - volume: 111 - pages: 72-77.

Lambert, V.  et al. 2015

Right ventricular failure secondary to chronic overload in congenital heart diseases: benefits of cell therapy using human embryonic stem cell-derived cardiac progenitors

OBJECTIVE: Despite the increasing incidence of right ventricular (RV) failure in adult patients with congenital heart disease, current therapeutic options are still limited. By contrast to left-heart...
J. Thorac. Cardiovasc. Surg. - issue: 3 - volume: 149 - pages: 708-715.e1.

Lambert, V.  et al. 2015

Right ventricular failure secondary to chronic overload in congenital heart diseases: benefits of cell therapy using human embryonic stem cell-derived cardiac progenitors

OBJECTIVE: Despite the increasing incidence of right ventricular (RV) failure in adult patients with congenital heart disease, current therapeutic options are still limited. By contrast to left-heart...
J Thorac Cardiovasc Surg - issue: 3 - volume: 149 - pages: 708-715.e1.

Elkhatib, R.  et al. 2015

Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. There is mounting evidence that the NL plays a...
Mol. Hum. Reprod. - issue: 3 - volume: 21 - pages: 225-236.

Elkhatib, R.  et al. 2015

Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. There is mounting evidence that the NL plays a...
Mol. Hum. Reprod. - issue: 3 - volume: 21 - pages: 225-236.

Elkhatib, R.  et al. 2015

Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. There is mounting evidence that the NL plays a...
Mol. Hum. Reprod. - issue: 3 - volume: 21 - pages: 225-236.