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Filters: Keyword is Drosophila melanogaster and Author is Bellen, Hugo J [Clear All Filters]
Using to drive the diagnosis and understand the mechanisms of rare human diseases. Development 147, (2020).
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell 45, 226-244.e8 (2018).
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).