Suchergebnis | Hamburg Open Science

Facetten

5 Einträge gefunden

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
2011 - Forschungsinformationssystem des UKE
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
2011 - Forschungsinformationssystem des UKE - frei zugänglich
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
2011 - Forschungsinformationssystem des UKE
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
2011 - Forschungsinformationssystem des UKE
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
2011 - Forschungsinformationssystem des UKE - frei zugänglich