Congenital heart defects (CHD) are the leading cause of death in the first year of life. Over the past 20 years, much effort has been focused on unraveling the genetic bases of CHD. In particular,...
J Dev Biol - issue: 2 - volume: 4 - pages: .

Purification of proteins that participate in large transient complexes is impeded by low amounts, heterogeneity, instability and poor solubility. To circumvent these difficulties we set up a...
Nat Commun - issue: - volume: 7 - pages: 10932.

Patients with Charcot-Marie-Tooth Type 2D (CMT2D), caused by dominant mutations in Glycl tRNA synthetase (GARS), present with progressive weakness, consistently in the hands, but often in the feet...
J. Neurosci. - issue: 11 - volume: 36 - pages: 3254-3267.

An important feature of experimental science is that data of various kinds is being produced at an unprecedented rate. This is mainly due to the development of new instrumental concepts and...
Anal. Chim. Acta - issue: - volume: 910 - pages: 1-11.

An important feature of experimental science is that data of various kinds is being produced at an unprecedented rate. This is mainly due to the development of new instrumental concepts and...
Anal. Chim. Acta - issue: - volume: 910 - pages: 1-11.

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

WOS:000371328100020
J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

J. Neurol. Neurosurg. Psychiatr. - issue: 3 - volume: 87 - pages: 340-342.

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-342.

Introduction: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. Methods: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

BACKGROUND: The mechanism involved in the onset of aortic valve (AoV) disease remains unclear despite its poor prognosis and frequency. Recently, we reported that Krox20 (EGR2 in humans) is involved...
Arch Cardiovasc Dis - issue: 3 - volume: 109 - pages: 188-198.

BACKGROUND: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations...
Dev. Dyn. - issue: 3 - volume: 245 - pages: 388-401.

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev. Neurol. (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Background: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations...
Dev. Dyn. - issue: 3 - volume: 245 - pages: 388-401.

Background. - The mechanism involved in the onset of aortic valve (AoV) disease remains unclear despite its poor prognosis and frequency. Recently, we reported that Krox20 (EGR2 in humans) is involved...
Arch. Cardiovasc. Dis. - issue: 3 - volume: 109 - pages: 188-198.

BACKGROUND: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations...
Dev. Dyn. - issue: 3 - volume: 245 - pages: 388-401.