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Authors: Robyn Labrum
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Journal Article

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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Micol Falabella and others
Brain, Volume 148, Issue 2, February 2025, Pages 647–662, https://doi.org/10.1093/brain/awae268
Published: 30 August 2024
Journal Article

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

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Wai Yan Yau and others
Brain, Volume 143, Issue 4, April 2020, Page e25, https://doi.org/10.1093/brain/awaa043
Published: 10 March 2020
Journal Article

The clinical and genetic heterogeneity of paroxysmal dyskinesias

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Alice R. Gardiner and others
Brain, Volume 138, Issue 12, December 2015, Pages 3567–3580, https://doi.org/10.1093/brain/awv310
Published: 18 November 2015