MMG PUBLICATIONS

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Results: 1691  publications found.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Vergier, J.  et al. 2019

Evaluation of flash glucose monitoring after long-term use: A pediatric survey

AIMS: To understand the opinions of children with type 1 diabetes about their everyday use of flash glucose monitoring. (FGM). METHODS: Children with type 1 diabetes using the FreeStyle Libre® FGM...
Prim Care Diabetes - issue: 1 - volume: 13 - pages: 63-70.

Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1...
Int J Genomics - issue: - volume: 2019 - pages: 6956934.

Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We...
Genet. Med. - issue: 4 - volume: 21 - pages: 837-849.

Valence, S.  et al. 2019

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: 3 - volume: 21 - pages: 553-563.

El-Bazzal, L.  et al. 2019

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the...
Hum. Mol. Genet. - issue: 14 - volume: 28 - pages: 2378-2394.

El-Bazzal, L.  et al. 2019

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the...
Hum. Mol. Genet. - issue: 14 - volume: 28 - pages: 2378-2394.

O'Donnell-Luria, AH.  et al. 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker...
Am. J. Hum. Genet. - issue: 6 - volume: 104 - pages: 1210-1222.

Fultang, L.  et al. 2019

Macrophage-Derived IL1? and TNF? Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.

Piard, J.  et al. 2019

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We...
Genet. Med. - issue: 6 - volume: 21 - pages: 1308-1318.

Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

OBJECTIVE: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. METHODS: We reviewed...
Epilepsia - issue: 5 - volume: 60 - pages: 845-856.

Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development...
Physiol Rep - issue: 10 - volume: 7 - pages: e14055.

Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development...
Physiol Rep - issue: 10 - volume: 7 - pages: e14055.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann. Clin. Transl. Neurol. - issue: 4 - volume: 6 - pages: 642-654.

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

Etchevers, HC.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
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Tsuge, Y.  et al. 2019

Enhanced production of d-lactate from mixed sugars in Corynebacterium glutamicum by overexpression of glycolytic genes encoding phosphofructokinase and triosephosphate isomerase

The use of mixed sugars containing glucose and xylose in lignocellulosic biomass is desirable for the microbial production of chemicals and fuels. We investigated the effect of individual or...
J. Biosci. Bioeng. - issue: 3 - volume: 127 - pages: 288-293.

Krahn, M.  et al. 2019

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200...
Eur. J. Hum. Genet. - issue: 3 - volume: 27 - pages: 349-352.