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Authors: Naomichi Matsumoto
Journal Article
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia Open Access
Brain, Volume 147, Issue 11, November 2024, Pages 3949–3967, https://doi.org/10.1093/brain/awae185
Published: 31 July 2024
Journal Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis Get access
Brain, Volume 145, Issue 8, August 2022, Pages 2687–2703, https://doi.org/10.1093/brain/awac145
Published: 09 June 2022
Journal Article
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy Free
Brain, Volume 145, Issue 9, September 2022, Pages 3010–3021, https://doi.org/10.1093/brain/awac135
Published: 12 April 2022
Journal Article
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome Free
Brain, Volume 145, Issue 3, March 2022, Pages 1139–1150, https://doi.org/10.1093/brain/awab363
Published: 31 March 2022
Journal Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment Free
Brain, Volume 144, Issue 8, August 2021, Page e67, https://doi.org/10.1093/brain/awab183
Published: 25 May 2021
Journal Article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment Free
Brain, Volume 144, Issue 4, April 2021, Pages 1103–1117, https://doi.org/10.1093/brain/awab021
Published: 01 April 2021
Journal Article
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects Free
Brain, Volume 141, Issue 11, November 2018, Pages 3098–3114, https://doi.org/10.1093/brain/awy246
Published: 26 September 2018
Journal Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy Open Access
Brain, Volume 141, Issue 6, June 2018, Pages 1703–1718, https://doi.org/10.1093/brain/awy092
Published: 13 April 2018
Journal Article
EDITOR'S CHOICE
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy Free
Brain, Volume 140, Issue 9, September 2017, Pages 2322–2336, https://doi.org/10.1093/brain/awx195
Published: 24 August 2017
