MMG PUBLICATIONS

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Results: 3193  publications found.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.


Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.


Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Background: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: - volume: 17 - pages: 66.


El Bazzal, L.  et al. 2016

New Missense Mutations in the Vaccinia-Related Kinase 1 Gene Are Associated with Autosomal Recessive Axonal Charcot-Marie-Tooth Disease

J. Peripher. Nerv. Syst. - issue: 3 - volume: 21 - pages: 251-252.


Nouar, R.  et al. 2016

Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells

Stathmin is a prominent destabilizer of microtubules (MTs). Extensive in vitro studies have strongly suggested that stathmin could act by sequestering tubulin and/or by binding to MT tips. In cells,...
FASEB J. - issue: 9 - volume: 30 - pages: 3202-3215.


Badens, C.  et al. 2016

Advances in understanding the pathogenesis of the red cell volume disorders

Genetic defects of erythrocyte transport proteins cause disorders of red blood cell volume that are characterized by abnormal permeability to the cations Na(+) and K(+) and, consequently, by changes...
Br. J. Haematol. - issue: 5 - volume: 174 - pages: 674-685.


Nouar, R.  et al. 2016

Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells

Stathmin is a prominent destabilizer of microtubules (MTs). Extensive in vitro studies have strongly suggested that stathmin could act by sequestering tubulin and/or by binding to MT tips. In cells,...
FASEB J. - issue: 9 - volume: 30 - pages: 3202-3215.


Badens, C.  et al. 2016

Advances in understanding the pathogenesis of the red cell volume disorders

Genetic defects of erythrocyte transport proteins cause disorders of red blood cell volume that are characterized by abnormal permeability to the cations Na(+) and K(+) and, consequently, by changes...
Br. J. Haematol. - issue: 5 - volume: 174 - pages: 674-685.


El Bazzal, L.  et al. 2016

New Missense Mutations in the Vaccinia-Related Kinase 1 Gene Are Associated with Autosomal Recessive Axonal Charcot-Marie-Tooth Disease

WOS:000383856200260
J. Peripher. Nerv. Syst. - issue: 3 - volume: 21 - pages: 251-252.


Harhouri, K.  et al. 2016

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS...
Cells - issue: 3 - volume: 5 - pages: 31.


Alam, MM.  et al. 2016

π-Extended diketopyrrolopyrrole-porphyrin arrays: one- and two-photon photophysical investigations and theoretical studies

A complete one- and two-photon spectroscopic and photophysical characterization of three diketopyrrolopyrrole (DPP)-porphyrin conjugates is reported. The increased conjugation introduced by the...
Phys Chem Chem Phys - issue: 31 - volume: 18 - pages: 21954-21965.


Alam, MM.  et al. 2016

π-Extended diketopyrrolopyrrole-porphyrin arrays: one- and two-photon photophysical investigations and theoretical studies

A complete one- and two-photon spectroscopic and photophysical characterization of three diketopyrrolopyrrole (DPP)-porphyrin conjugates is reported. The increased conjugation introduced by the...
Phys Chem Chem Phys - issue: 31 - volume: 18 - pages: 21954-21965.


Miltgen, M.  et al. 2016

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.


Runnqvist, E.  et al. 2016

Internal modeling of upcoming speech: A causal role of the right posterior cerebellum in non-motor aspects of language production

Some language processing theories propose that, just as for other somatic actions, self-monitoring of language production is achieved through internal modeling. The cerebellum is the proposed center...
Cortex - issue: - volume: 81 - pages: 203-214.


Miltgen, M.  et al. 2016

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.


Miltgen, M.  et al. 2016

Novel Heterozygous Mutation in ANO3 Responsible for Craniocervical Dystonia

WOS:000382558800031
Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.


Runnqvist, E.  et al. 2016

Internal modeling of upcoming speech: A causal role of the right posterior cerebellum in non-motor aspects of language production

Some language processing theories propose that, just as for other somatic actions, self-monitoring of language production is achieved through internal modeling. The cerebellum is the proposed center...
Cortex - issue: - volume: 81 - pages: 203-214.


Bais, P.  et al. 2016

Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot-Marie-Tooth type 2D...
Biol Open - issue: 7 - volume: 5 - pages: 908-920.


Harhouri, K.  et al. 2016

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS...
Cells - issue: 3 - volume: 5 - pages: .


Harhouri, K.  et al. 2016

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS...
Cells - issue: 3 - volume: 5 - pages: .