MMG PUBLICATIONS

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Results: 3193  publications found.

Odelin, G.  et al. 2014

Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes

AIMS: Heart valve maturation is achieved by the organization of extracellular matrix (ECM) and the distribution of valvular interstitial cells. However, the factors that regulate matrix components...
Cardiovasc. Res. - issue: 3 - volume: 104 - pages: 443-455.

Xi, J.  et al. 2014

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

BACKGROUND AND AIMS: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational...
Neurol India - issue: 6 - volume: 62 - pages: 635-639.

Mear, Y.  et al. 2014

Ghrelin receptor (GHS-R1a) and its constitutive activity in somatotroph adenomas: a new co-targeting therapy using GHS-R1a inverse agonists and somatostatin analogs

CONTEXT: The ghrelin receptor GHS-R1a is highly expressed in human somatotroph adenomas and exhibits unusually high basal signaling activity. In humans, the suppression of this constitutive activity...
J. Clin. Endocrinol. Metab. - issue: 12 - volume: 99 - pages: E2463-2471.

Xi, J.  et al. 2014

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

BACKGROUND AND AIMS: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational...
Neurol India - issue: 6 - volume: 62 - pages: 635-639.

Bannwarth, S.  et al. 2014

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

WOS:000346761200006
Brain - issue: - volume: 137 - pages: e314.

Davis, TA.  et al. 2014

AHNAK: the giant jack of all trades

The nucleoprotein AHNAK is an unusual and somewhat mysterious scaffolding protein characterised by its large size of approximately 700 kDa. Several aspects of this protein remain uncertain, including...
Cell. Signal. - issue: 12 - volume: 26 - pages: 2683-2693.

Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Kergourlay, V.  et al. 2014

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Bartoli, M.  et al. 2014

Exome Sequencing as a Second-Tier Diagnostic Approach for Clinically Suspected Dysferlinopathy Patients

Introduction: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Bannwarth, S.  et al. 2014

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

WOS:000346761200002
Brain - issue: - volume: 137 - pages: e310.

Bannwarth, S.  et al. 2014

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

WOS:000346761200004
Brain - issue: - volume: 137 - pages: e312.

Bannwarth, S.  et al. 2014

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

WOS:000346761200006
Brain - issue: - volume: 137 - pages: e314.

Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Kergourlay, V.  et al. 2014

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.

Bartoli, M.  et al. 2014

Exome Sequencing as a Second-Tier Diagnostic Approach for Clinically Suspected Dysferlinopathy Patients

Introduction: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.

Odelin, G.  et al. 2014

Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes

AIMS: Heart valve maturation is achieved by the organization of extracellular matrix (ECM) and the distribution of valvular interstitial cells. However, the factors that regulate matrix components...
Cardiovasc. Res. - issue: 3 - volume: 104 - pages: 443-455.

Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.