MMG PUBLICATIONS

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Results: 2253  publications found.

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: .


Chandra, G.  et al. 2019

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

Autosomal recessive mutations in Anoctamin 5 (ANO5/TMEM16E), a member of the transmembrane 16 (TMEM16) family of Ca2+-activated ion channels and phospholipid scramblases, cause adult-onset muscular...
- issue: - volume: 5 - pages: .


Gaillard, M.  et al. 2019

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant pathology is associated in 95% of cases...
Sci Rep - issue: 1 - volume: 9 - pages: 10327.


Gaillard, M.  et al. 2019

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

- issue: - volume: 9 - pages: .


Gaillard, M.  et al. 2019

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy

Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant pathology is associated in 95% of cases...
- issue: - volume: 9 - pages: .


Balducci, E.  et al. 2019

Extracellular vesicles from T cells overexpress miR-146b-5p in HIV-1 infection and repress endothelial activation

- issue: - volume: 9 - pages: .


Balducci, E.  et al. 2019

Extracellular vesicles from T cells overexpress miR-146b-5p in HIV-1 infection and repress endothelial activation

Human immunodeficiency virus type 1 (HIV-1) infection promotes a generalized activation of host responses that involves not only CD4 T cells, but also cells of the microenvironment, which are not...
- issue: - volume: 9 - pages: .


El-Bazzal, L.  et al. 2019

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

- 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.


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...
- 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.