SOXopathies and dystonia: Consolidation of a recurrent association.
Parkinsonism Relat Disord
2024
119
Clinical and Coronary Plaque Predictors of Atherosclerotic Nonresponse to Statin Therapy.
JACC Cardiovasc Imaging
2023
16
4
495-504
Global Alliance for the Promotion of Physical Activity: the Hamburg Declaration.
BMJ Open Sport Exerc Med
2023
9
3
2023 ESC Guidelines for the management of cardiovascular disease in patients with diabetes.
Eur Heart J
2023
44
39
4043-4140
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
2023
17
1
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Genes (Basel)
2023
14
9
Integrative omics approaches to advance rare disease diagnostics.
J Inherit Metab Dis
2023
46
5
824-838
FOXD2 DYSFUNCTION IS IMPLICATED IN SYNDROMIC CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)
Pediatr Nephrol
2023
38 Suppl 2
S128-S129
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
2024
147
4
1436-1456
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Mov Disord
2024
39
1
29-35