MMG PUBLICATIONS

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Results: 2478  publications found.

Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.


Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.


Laure, L.  et al. 2010

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-kappa B pathway in skeletal muscle

A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein ( CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric...
FEBS J. - issue: 20 - volume: 277 - pages: 4322-4337.


Longepied, G.  et al. 2010

Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man

BACKGROUND: Deletion of the entire AZFb interval from the Y chromosome is strictly associated with azoospermia arising from maturation arrest during meiosis. Here, we describe the exceptional case of...
Hum. Reprod. - issue: 10 - volume: 25 - pages: 2655-2663.


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.


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.


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.


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.


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.