In skeletal muscle, autophagy is activated in multiple physiological and pathological conditions, notably through the transcriptional regulation of autophagy-related genes by FoxO3. However, recent...
Int. J. Biochem. Cell Biol. - issue: - volume: 54 - pages: 208-216.

In skeletal muscle, autophagy is activated in multiple physiological and pathological conditions, notably through the transcriptional regulation of autophagy-related genes by FoxO3. However, recent...
Int. J. Biochem. Cell Biol. - issue: - volume: 54 - pages: 208-216.

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Sensors of the innate immune system that detect intracellular nucleic acids must be regulated to prevent inappropriate activation by endogenous DNA and RNA. The exonuclease Trex1 regulates the...
Nat. Immunol. - issue: 9 - volume: 15 - pages: 839-845.

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

The high specificity of antibodies for their antigen allows a fine discrimination of target conformations and post-translational modifications, making antibodies the first choice tool to interrogate...
PLoS One - issue: 8 - volume: 9 - pages: e104998.

Background: The phosphoinositide 3-kinase (PI3K) pathway is involved in the growth of various human cancers, including lymphoid malignancies. However its role in the pathogenesis of follicular...
BMC Cancer - issue: - volume: 14 - pages: 565.

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density...
Eur. J. Hum. Genet. - issue: 8 - volume: 22 - pages: 1002-1011.