MMG PUBLICATIONS

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Results: 3193  publications found.

Krahn, M.  et al. 2010

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.


Krahn, M.  et al. 2010

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.


Jamali, S.  et al. 2010

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures

BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood....
PLoS ONE - issue: 9 - volume: 5 - pages: .


Levy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970.


Lévy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.


Lévy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.


Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.


Nieguitsila, A.  et al. 2010

Molecular monitoring of fungal communities in air samples by denaturing high-performance liquid chromatography (D-HPLC)

AIMS: To describe a new molecular technique for the assessment of fungal diversity in the air. METHODS AND RESULTS: Air samples were collected every week in a henhouse in France during a 15-week...
J. Appl. Microbiol. - issue: 3 - volume: 109 - pages: 910-917.


Lévy, N.  et al. 2010

Therapeutic exon 'switching' for dysferlinopathies?

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.


Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.


Bruyneel, A.  et al. 2010

Gait initiation reflects the adaptive biomechanical strategies of adolescents with idiopathic scoliosis

BACKGROUND: The dynamics behavior of patients with idiopathic scoliosis obviously requires some biomechanical compensatory strategies. Our objective is to analyze the ground reaction forces (GRF)...
Ann Phys Rehabil Med - issue: 6-7 - volume: 53 - pages: 372-386.


Ye, J.  et al. 2010

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

Human telomeres are protected from DNA damage by a nucleoprotein complex that includes the repeat-binding factor TRF2. Here, we report that TRF2 regulates the 5' exonuclease activity of its binding...
Cell - issue: 2 - volume: 142 - pages: 230-242.


Domalain, M.  et al. 2010

Determination of passive moment-angle relationships at the trapeziometacarpal joint

While modeling the trapeziometacarpal (TMC) joint for determination of tendon forces, the TMC has been considered frictionless and passive moments created by soft tissues neglected. This, however,...
J Biomech Eng - issue: 7 - volume: 132 - pages: 071009.


Neri, T.  et al. 2010

Cardiac regeneration: still a 21st century challenge in search for cardiac progenitors from stem cells and embryos.

Regeneration of the heart after a stroke would be the best biologic response to restore its function. However, although this phenomenon occurs in primitive organisms, the regenerative potential is...
J Cardiovasc Pharmacol - issue: 1 - volume: 56 - pages: 16-21.


Moucheront, P.  et al. 2010

MRI investigation of granular interface rheology using a new cylinder shear apparatus

The rheology of granular materials near an interface is investigated through proton magnetic resonance imaging. A new cylinder shear apparatus has been inserted in the magnetic resonance imaging...
Magn Reson Imaging - issue: 6 - volume: 28 - pages: 910-918.


Falandry, C.  et al. 2010

CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation

Proteins bearing a SET domain have been shown to methylate lysine residues in histones and contribute to chromatin architecture. Methylation of histone H3 at lysine 9 (H3K9) has emerged as an...
J. Biol. Chem. - issue: 26 - volume: 285 - pages: 20234-20241.


Ourliac-Garnier, I.  et al. 2010

Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1

Telomeres, the nucleoprotein complexes located at the ends of chromosomes, are involved in chromosome protection and genome stability. Telomeric repeat binding factor 1 (TRF1) and telomeric repeat...
J. Biol. Inorg. Chem. - issue: 5 - volume: 15 - pages: 641-654.


Lin, S.  et al. 2010

Endogenous retinoic acid regulates cardiac progenitor differentiation

Retinoic acid (RA) has several established functions during cardiac development, including actions in the fetal epicardium required for myocardial growth. An open question is if retinoid effects are...
Proc. Natl. Acad. Sci. U.S.A. - issue: 20 - volume: 107 - pages: 9234-9239.


Lostal, W.  et al. 2010

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair,...
Hum. Mol. Genet. - issue: 10 - volume: 19 - pages: 1897-1907.


Lostal, W.  et al. 2010

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair,...
Hum. Mol. Genet. - issue: 10 - volume: 19 - pages: 1897-1907.