Centre Hospitalier Universitaire de Grenoble

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1

Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next-generation sequencing (NGS) currently...

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Effect of chronic high‐altitude hypoxia on retinal vascular phenotype, choroidal and retinal vasoreactivity in Peruvian highlanders

Abstract High‐altitude chronic hypoxia can induce excessive erythrocytosis (EE, defined as a haemoglobin concentration of ≥21 g/dL in men), leading to hyperviscosity and promoting endothelial dysfunction. We aimed to assess whether EE affects the retinal vascular phenotype and th...

The top 10 priorities in palliative care research in France: final results of the AXEPRO study

Prioritizing research is essential to reduce waste, particularly in palliative care, a field with historically limited investment. To identify and rank the top 10 unanswered palliative care research questions in France according to patients, caregivers, healthcare professionals a...

STABILOOP, a cohort trial to assess automated insulin delivery in the management of patients living with type 1 diabetes who are eligible for islet transplantation

A limited subset of people living with type 1 diabetes (T1D) is affected by extreme glycemic lability and frequent unpredictable severe hypoglycemia, significantly impairing quality of life and associated with higher morbidity, mortality, and healthcare costs. Islet transplantati...

Behavioral changes preceded by subthalamic nucleus activity alterations in a progressive macaque model of Parkinson’s disease

Abstract Parkinson’s disease (PD) is diagnosed after motor symptoms appear, although non-motor symptoms emerge years earlier. Following years of pharmacological treatment, high-frequency stimulation (HFS) of the subthalamic nucleus (STN), a key hub in goal-directed behaviors, can...