Stentenbach Maike
From Bioblast
Name | Stentenbach Maike, |
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Institution | Harry Perkins Institute of Medical Research,
QEUU Medical Centre, AU |
Address | 5 Robin Warren Dr, WA 6150 |
City | Perth |
State/Province | |
Country | Australia |
Weblink | |
O2k-Network Lab | AU Perth Filipovska A |
Labels:
Publications
Published | Reference | |
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Lee 2022 Hum Mol Genet | 2022 | Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium, Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A (2022) Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. https://doi.org/10.1093/hmg/ddac040 |
Rossetti 2021 Sci Adv | 2021 | Rossetti G, Ermer JA, Stentenbach M, Siira SJ, Richman TR, Milenkovic D, Perks KL, Hughes LA, Jamieson E, Xiafukaiti G, Ward NC, Takahashi S, Gray N, Viola HM, Hool LC, Rackham O, Filipovska A (2021) A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance. Sci Adv 7:eabi7514. |
Lee 2018 Neurol Genet | 2018 | Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A (2018) Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction. Neurol Genet 4:e276. |