PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

Fatehi, F.  et al. 2016

Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach

Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized...
Rev. Neurol. (Paris) - issue: 10 - volume: 172 - pages: 566-571.

Rajabally, YA.  et al. 2016

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Distinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is...
J. Neurol. Neurosurg. Psychiatr. - issue: 10 - volume: 87 - pages: 1051-1060.

Oetting, WS.  et al. 2016

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

WOS:000385805800012
Hum. Mutat. - issue: 10 - volume: 37 - pages: 1110-1113.

Coquart, B.  et al. 2016

Anterolateral ligament of the knee: myth or reality?

PURPOSE: A ligament of the knee has recently drawn the attention: the rediscovered anterolateral ligament (ALL) of the knee. The tibial insertion of the ALL is torn off in the Segond fracture,...
Surg Radiol Anat - issue: 8 - volume: 38 - pages: 955-962.

Rajabally, YA.  et al. 2016

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Distinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is...
J. Neurol. Neurosurg. Psychiatr. - issue: 10 - volume: 87 - pages: 1051-1060.

Coquart, B.  et al. 2016

Anterolateral ligament of the knee: myth or reality?

PURPOSE: A ligament of the knee has recently drawn the attention: the rediscovered anterolateral ligament (ALL) of the knee. The tibial insertion of the ALL is torn off in the Segond fracture,...
Surg Radiol Anat - issue: 8 - volume: 38 - pages: 955-962.

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.

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.

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: 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.