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1-20 of 25
Authors: Pasquale Striano
Journal Article
The expanding clinical and genetic spectrum of DYNC1H1-related disorders
Brain, Volume 148, Issue 2, February 2025, Pages 597–612, https://doi.org/10.1093/brain/awae183
Published: 08 June 2024
Journal Article
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Brain, Volume 147, Issue 8, August 2024, Pages 2775–2790, https://doi.org/10.1093/brain/awae056
Published: 08 March 2024
Journal Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Brain, Volume 146, Issue 12, December 2023, Pages 5198–5208, https://doi.org/10.1093/brain/awad292
Published: 30 August 2023
Journal Article
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
Brain, Volume 146, Issue 1, January 2023, Pages e1–e4, https://doi.org/10.1093/brain/awac323
Published: 07 September 2022
Journal Article
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study
Brain, Volume 145, Issue 11, November 2022, Pages 3859–3871, https://doi.org/10.1093/brain/awac224
Published: 10 August 2022
Journal Article
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Brain, Volume 145, Issue 9, September 2022, Pages 3308–3327, https://doi.org/10.1093/brain/awac106
Published: 04 July 2022
Journal Article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Brain, Volume 145, Issue 6, June 2022, Pages 1939–1948, https://doi.org/10.1093/brain/awab451
Published: 03 June 2022
Journal Article
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Brain, Volume 145, Issue 7, July 2022, Pages 2301–2312, https://doi.org/10.1093/brain/awac116
Published: 04 April 2022
Journal Article
Assessing the landscape of STXBP1-related disorders in 534 individuals
Brain, Volume 145, Issue 5, May 2022, Pages 1668–1683, https://doi.org/10.1093/brain/awab327
Published: 23 November 2021
Journal Article
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy
Brain, Volume 145, Issue 4, April 2022, Pages 1285–1298, https://doi.org/10.1093/brain/awab417
Published: 19 November 2021
Journal Article
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Brain, Volume 145, Issue 9, September 2022, Pages 2991–3009, https://doi.org/10.1093/brain/awab321
Published: 25 August 2021
Journal Article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Brain, Volume 144, Issue 12, December 2021, Pages 3635–3650, https://doi.org/10.1093/brain/awab219
Published: 11 June 2021
Journal Article
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Brain, Volume 144, Issue 5, May 2021, Pages 1451–1466, https://doi.org/10.1093/brain/awab056
Published: 15 April 2021
Journal Article
Cortical tremor: a tantalizing conundrum between cortex and cerebellum
Brain, Volume 143, Issue 10, October 2020, Page e87, https://doi.org/10.1093/brain/awaa260
Published: 04 October 2020
Journal Article
EDITOR'S CHOICE
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study
Brain, Volume 143, Issue 8, August 2020, Pages 2454–2473, https://doi.org/10.1093/brain/awaa200
Published: 28 August 2020
Journal Article
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
Brain, Volume 143, Issue 2, February 2020, Pages 441–451, https://doi.org/10.1093/brain/awz391
Published: 19 December 2019
Journal Article
EDITOR'S CHOICE
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Brain, Volume 141, Issue 11, November 2018, Pages 3160–3178, https://doi.org/10.1093/brain/awy263
Published: 22 October 2018
Journal Article
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
Brain, Volume 141, Issue 2, February 2018, Pages 391–408, https://doi.org/10.1093/brain/awx341
Published: 30 January 2018
Journal Article
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
Brain, Volume 140, Issue 11, November 2017, Pages 2879–2894, https://doi.org/10.1093/brain/awx236
Published: 07 October 2017
Journal Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Brain, Volume 140, Issue 5, May 2017, Pages 1316–1336, https://doi.org/10.1093/brain/awx054
Published: 04 April 2017
