MMG PUBLICATIONS

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Results: 1269  publications found.

Delmont, E.  et al. 2017

Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study

Our objective was to assess determinants of quality of life (QoL) in anti-myelin associated glycoprotein antibody (MAG) neuropathy. The SF-36 questionnaire was assessed in 55 patients, from Marseille,...
J. Peripher. Nerv. Syst. - issue: 1 - volume: 22 - pages: 27-33.


Delmont, E.  et al. 2017

Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study

Our objective was to assess determinants of quality of life (QoL) in anti-myelin associated glycoprotein antibody (MAG) neuropathy. The SF-36 questionnaire was assessed in 55 patients, from Marseille,...
J. Peripher. Nerv. Syst. - issue: 1 - volume: 22 - pages: 27-33.


Eroukhmanoff, J.  et al. 2017

MRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment

OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once...
Eur. J. Endocrinol. - issue: 3 - volume: 176 - pages: 323-328.


Matagne, V.  et al. 2017

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.


Matagne, V.  et al. 2017

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of...
Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.


Froudarakis, ME.  et al. 2017

Positive pleural cytology is an indicator for visceral pleural invasion in metastatic pleural effusions

INTRODUCTION: In case of undiagnosed pleural effusions, it is necessary to conduct thoracentesis with pleural fluid (PF) cytology. Yet, sensitivity of PF cytology is widely variable as a result of...
Clin Respir J - issue: - volume: - pages: .


Froudarakis, ME.  et al. 2017

Positive pleural cytology is an indicator for visceral pleural invasion in metastatic pleural effusions

INTRODUCTION: In case of undiagnosed pleural effusions, it is necessary to conduct thoracentesis with pleural fluid (PF) cytology. Yet, sensitivity of PF cytology is widely variable as a result of...
Clin Respir J - issue: - volume: - pages: .


Noury, J.  et al. 2017

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement...
Muscle Nerve - issue: - volume: - pages: .


Noury, J.  et al. 2017

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement...
Muscle Nerve - issue: - volume: - pages: .


Galvani, G.  et al. 2017

Conversion of 3-Bromo-2H-coumarins to 3-(Benzofuran-2-yl)-2H-coumarins under Palladium Catalysis: Synthesis and Photophysical Properties Study

An intriguing conversion of 3-bromo-2H-coumarins to 3-(benzofuran-2-yl)-2H-coumarins under palladium catalysis is reported. The process involves, from only one single starting material, three...
Org. Lett. - issue: 4 - volume: 19 - pages: 910-913.


Galvani, G.  et al. 2017

Conversion of 3-Bromo-2H-coumarins to 3-(Benzofuran-2-yl)-2H-coumarins under Palladium Catalysis: Synthesis and Photophysical Properties Study

An intriguing conversion of 3-bromo-2H-coumarins to 3-(benzofuran-2-yl)-2H-coumarins under palladium catalysis is reported. The process involves, from only one single starting material, three...
Org. Lett. - issue: 4 - volume: 19 - pages: 910-913.


Grimaldi, S.  et al. 2017

Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis

INTRODUCTION: We propose a motor unit number index (MUNIX) global sum score in amyotrophic lateral sclerosis (ALS) to estimate the loss of functional motor units. METHODS: MUNIX was assessed for 18...
Muscle Nerve - issue: - volume: - pages: .


Grimaldi, S.  et al. 2017

Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis

INTRODUCTION: We propose a motor unit number index (MUNIX) global sum score in amyotrophic lateral sclerosis (ALS) to estimate the loss of functional motor units. METHODS: MUNIX was assessed for 18...
Muscle Nerve - issue: - volume: - pages: .


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nature Genet. - issue: 2 - volume: 49 - pages: 249-255.


Duclos, Y.  et al. 2017

Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis

OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish....
Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.


Roux, M.  et al. 2017

Hoxa1 and Hoxb1 are required for pharyngeal arch artery development

Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres...
Mech Dev - issue: - volume: 143 - pages: 1-8.


Stefanovic, S.  et al. 2017

Mechanisms of retinoic acid signaling during cardiogenesis

Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a...
Mech. Dev. - issue: - volume: 143 - pages: 9-19.


Arnaud, P.  et al. 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound...
J. Med. Genet. - issue: 2 - volume: 54 - pages: 100-103.


Duclos, Y.  et al. 2017

Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis

OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish....
Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.