Eukaryotic cells have been confronted throughout their evolution with potentially lethal plasma membrane injuries, including those caused by osmotic stress, by infection from bacterial toxins and...
Physiol. Rev. - issue: 4 - volume: 95 - pages: 1205-1240.

WOS:000365136200006
Brain - issue: - volume: 138 - pages: E386-U20.

WOS:000365136200006
Brain - issue: - volume: 138 - pages: E386-U20.

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a...
Endocr. Relat. Cancer - issue: 5 - volume: 22 - pages: 745-757.

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy...
Am. J. Med. Genet. A - issue: 10 - volume: 167A - pages: 2314-2318.

The Gardos channel is a Ca2+-sensitive, intermediate conductance, potassium selective channel expressed in several tissues including erythrocytes and pancreas. In normal erythrocytes, it is involved...
Blood - issue: 11 - volume: 126 - pages: 1273-1280.

Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals(1-3). It can manifest as mitral regurgitation and is the leading indication for mitral valve...
Nature - issue: 7567 - volume: 525 - pages: 109-+.

Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery....
Nature - issue: 7567 - volume: 525 - pages: 109-113.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

- issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.

Mov. Disord. - issue: 10 - volume: 30 - pages: 1431-1432.

Mov. Disord. - issue: 10 - volume: 30 - pages: 1431-1432.