MMG PUBLICATIONS

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Results: 4197  publications found.

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.

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.

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.