MMG PUBLICATIONS

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Results: 2478  publications found.

Francastel, C.  et al. 2019

DNA methylation in satellite repeats disorders

Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of...
Essays Biochem. - issue: - volume: - pages: .


Mondielli, G.  et al. 2019

TARGETING PI3K-AKT-MTOR AND MAP-KINASE PATHWAYS IN AGGRESSIVE MENINGIOMAS: IN VITRO STUDY

- issue: 3 - volume: 21 - pages: 17.


Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019)

- issue: 8 - volume: 21 - pages: 1897-1898.


Studen, KB.  et al. 2019

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency

- issue: 2 - volume: 65 - pages: 379-385.


Mika, D.  et al. 2019

Synergic PDE3 and PDE4 control intracellular cAMP and cardiac excitation-contraction coupling in a porcine model

- issue: - volume: 133 - pages: 57-66.


Grapperon, A.  et al. 2019

Quantitative Brain Sodium MRI Depicts Corticospinal Impairment in Amyotrophic Lateral Sclerosis

- issue: 2 - volume: 292 - pages: 422-428.


Chatonnet, A.  et al. 2019

An evolutionary perspective on the first disulfide bond in members of the cholinesterase-carboxylesterase (COesterase) family: Possible outcomes for cholinesterase expression in prokaryotes

- issue: - volume: 308 - pages: 179-184.


Theraulaz, G.  et al. 2019

In memoriam Jacques Gervet (1934-2018)

- issue: 3 - volume: 66 - pages: 501-502.


Fabre, A.  et al. 2019

Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review

- issue: 6 - volume: 7 - pages: 1958+.


Mondielli, G.  et al. 2019

TARGETING PI3K-AKT-MTOR AND MAPKINASE PATHWAYS IN AGGRESSIVE MENINGIOMAS: IN VITRO STUDY

- issue: 3 - volume: 21 - pages: 17.


Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019)

- issue: 8 - volume: 21 - pages: 1897-1898.


Studen, KB.  et al. 2019

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency

PurposeAmong genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD...
- issue: 2 - volume: 65 - pages: 379-385.


Mika, D.  et al. 2019

Synergic PDE3 and PDE4 control intracellular cAMP and cardiac excitation-contraction coupling in a porcine model

Aims: Cyclic AMP phosphodiesterases (PDEs) are important modulators of the cardiac response to beta-adrenergic receptor (beta-AR) stimulation. PDE3 is classically considered as the major cardiac PDE...
- issue: - volume: 133 - pages: 57-66.


Grapperon, A.  et al. 2019

Quantitative Brain Sodium MRI Depicts Corticospinal Impairment in Amyotrophic Lateral Sclerosis

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly affects the upper and lower motor neurons. Recent sodium (Na-23) MRI studies have shown that abnormal...
- issue: 2 - volume: 292 - pages: 422-428.


Chatonnet, A.  et al. 2019

An evolutionary perspective on the first disulfide bond in members of the cholinesterase-carboxylesterase (COesterase) family: Possible outcomes for cholinesterase expression in prokaryotes

Within the alpha/beta hydrolase fold superfamily of proteins, the COesterase group (carboxylesterase type B, block C, cholinesterases ...) diverged from the other groups through simultaneous...
- issue: - volume: 308 - pages: 179-184.


Theraulaz, G.  et al. 2019

In memoriam Jacques Gervet (1934-2018)

- issue: 3 - volume: 66 - pages: 501-502.


Fabre, A.  et al. 2019

Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review

BACKGROUND: Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) germline mutations have been recently described. A comprehensive overview of this early-onset multiorgan...
- issue: 6 - volume: 7 - pages: 1958+.


Wahbi, K.  et al. 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

- issue: 4 - volume: 140 - pages: 293-302.


Wahbi, K.  et al. 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable...
- issue: 4 - volume: 140 - pages: 293-302.


Chandra, G.  et al. 2019

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

- issue: - volume: 5 - pages: .