Dysferlin is a membrane-associated protein implicated in muscular dystrophy and vesicle movement and function in muscles. The precise role of dysferlin has been debated, partly because of the mild...
Am. J. Pathol. - issue: 1 - volume: 184 - pages: 248-259.

A comparative study of selenium oxyanion sorption was carried out by means of batch sorption experiments on three argillaceous rocks that differ in their mineralogical compositions and textural...
J Environ Radioact - issue: - volume: 127 - pages: 133-140.

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the...
J. Neurol. - issue: 1 - volume: 261 - pages: 152-163.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene.  MeCP2 transcripts are alternatively spliced to generate two protein isoforms (MeCP2_e1 and MeCP2_e2) that differ at...
F1000Res - issue: - volume: 2 - pages: 204.

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

BACKGROUND: The control of gene expression in the course of chronic kidney disease (CKD) is not well addressed. Alternative splicing is a common way to increase complexity of proteins. More than 90%...
PLoS ONE - issue: 12 - volume: 8 - pages: e82702.

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of...
PLoS ONE - issue: 7 - volume: 8 - pages: e69616.

BACKGROUND: The control of gene expression in the course of chronic kidney disease (CKD) is not well addressed. Alternative splicing is a common way to increase complexity of proteins. More than 90%...
PLoS ONE - issue: 12 - volume: 8 - pages: e82702.

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

The profession of genetic counseling in France was recognized in 2004, based on the recommendations of a mandate commissioned by the Health Minister to explore the medical demographics of France. The...
J. Genet. Couns. - issue: 6 - volume: 22 - pages: 844-848.

CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our...
Eur J Med Genet - issue: 12 - volume: 56 - pages: 674-677.

CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our...
Eur J Med Genet - issue: 12 - volume: 56 - pages: 674-677.