Author
Commonwealth Scientific and Industrial Research Organisation
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
2 papers
Recent·Most cited
Conrad Chris Weihl, Ana Töpf, Rocío Bengoechea…·Volker W. Straub
The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.
Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese…·Gianina Ravenscroft
The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.