Featured
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Brief Communication |
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus
- Xinhui Chen
- , Fan Zhang
- & Wei Luo
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Viewpoint
| Open AccessRethinking non-syndromic hearing loss and its mimics in the genomic era
- Barbara Vona
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Article |
Upstream open reading frame-introducing variants in patients with primary familial brain calcification
- Anne Rovelet-Lecrux
- , Antoine Bonnevalle
- & Gaël Nicolas
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Article |
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
- Claudio Peter D’Incal
- , Dale John Annear
- & R. Frank Kooy
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Brief Communication |
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
- Mahmoud Koko
- , Maha A. Elseed
- & Holger Lerche
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Article
| Open AccessDiagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation
- Lakmal Gonawala
- , Nalaka Wijekoon
- & K. Ranil D. de Silva
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Review Article
| Open AccessThe molecular genetics of nELAVL in brain development and disease
- Meghan R. Mulligan
- & Louise S. Bicknell
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Article
| Open AccessCUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
- Henry Oppermann
- , Elia Marcos-Grañeda
- & Konrad Platzer
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Article |
Three generation families: Analysis of de novo variants in autism
- Claudia I. Samogy Costa
- , Gabriele da Silva Campos
- & Maria Rita Passos-Bueno
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Comment |
Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis
- Hiroyuki Ishiyama
- & Masafumi Ihara
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Article |
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
- Chiara Giovenino
- , Slavica Trajkova
- & Alfredo Brusco
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Article |
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
- Lottie D. Morison
- , Olivia van Reyk
- & Angela T. Morgan
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Article |
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
- Weiqian Dai
- , Yu Sun
- & Na Xu
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Article
| Open AccessCharacterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
- Joshua Paul Harvey
- , Patrick Yu-Wai-Man
- & Michael Edward Cheetham
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Article
| Open AccessA novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
- Elisa Rahikkala
- , Lea Urpa
- & Outi Kuismin
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Brief Communication |
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
- Timothy E. Green
- , Mareike Schimmel
- & Samuel F. Berkovic
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Brief Communication
| Open AccessSOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo
- Maia Farrugia Wismayer
- , Andrew Farrugia Wismayer
- & Ruben J. Cauchi
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Article |
PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders
- Allan Bayat
- , Sumaiya Iqbal
- & Rikke S. Møller
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Article |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
- Nikolay A. Barashkov
- , Fedor A. Konovalov
- & Sardana A. Fedorova
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Article
| Open AccessGenome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects
- Slim Karkar
- , Claire Dandine-Roulland
- & Vincent Frouin
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Clinical Utility Gene Card |
Clinical utility gene card for FRMD7-related infantile nystagmus
- Basu Dawar
- , Helen J. Kuht
- & Mervyn G. Thomas
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Clinical Utility Gene Card |
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update
- Abdullah Aamir
- , Helen J. Kuht
- & Mervyn G. Thomas
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Article
| Open AccessGenetic analysis of ALS cases in the isolated island population of Malta
- Rebecca Borg
- , Maia Farrugia Wismayer
- & Ruben J. Cauchi
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Article |
Whole-exome sequencing of Finnish patients with vascular cognitive impairment
- Saana Mönkäre
- , Liina Kuuluvainen
- & Liisa Myllykangas
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Article |
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome
- Faezeh Sarayloo
- , Dan Spiegelman
- & Guy A. Rouleau
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Correspondence |
The evolutionarily conserved function of TBR1 in controlling the size of anterior commissure in human and mouse brains
- Yi-Ping Hsueh
- , Tsan-Ting Hsu
- & Tzyy-Nan Huang
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Comment |
Transcript-specific regulation in T-cells in multiple sclerosis susceptibility
- Lies Van Horebeek
- & An Goris
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Brief Communication |
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
- Mark F. Bennett
- , Karen L. Oliver
- & Melanie Bahlo
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Article |
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
- Iris G. M. Wijnen
- , Hermine E. Veenstra-Knol
- & Erik-Jan Kamsteeg
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Article |
Transcript specific regulation of expression influences susceptibility to multiple sclerosis
- Maria Ban
- , Wenjia Liao
- & Stephen Sawcer
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Article
| Open AccessNovel clinical and genetic insight into CXorf56-associated intellectual disability
- Maria Eugenia Rocha
- , Tainá Regina Damaceno Silveira
- & Aida M. Bertoli-Avella
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Article |
PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
- Leila Azizzadeh Pormehr
- , Shahin Ahmadian
- & Mahshid Shafiezadeh
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Brief Communication |
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
- Gerarda Cappuccio
- , Sergio Attanasio
- & Nicola Brunetti-Pierri
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Article |
Variants in DOCK3 cause developmental delay and hypotonia
- Kimberly Wiltrout
- , Alejandro Ferrer
- & Marwan Shinawi
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Article |
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
- Sandra Jansen
- , Ilse M. van der Werf
- & Bert B. A. de Vries
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Article
| Open AccessCentenarian controls increase variant effect sizes by an average twofold in an extreme case–extreme control analysis of Alzheimer’s disease
- Niccolò Tesi
- , Sven J. van der Lee
- & Henne Holstege
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Clinical Utility Gene Card |
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
- Ashley P. L. Marsh
- , Gaia Novarino
- & Richard J. Leventer
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Article |
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
- Laura van Diepen
- , Falk F. R. Buettner
- & Andreas W. Kuss
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Article
| Open AccessProject MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
- Wouter Van Rheenen
- , Sara L. Pulit
- & Jan H. Veldink
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Correspondence |
Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al.
- Hanno J. Bolz
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Correspondence |
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
- Sara Nuovo
- , Alessia Micalizzi
- & Enza Maria Valente
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Article |
Circulating microRNAs disclose biology of normal cognitive function in healthy elderly people – a discovery twin study
- Jonas Mengel-From
- , Søren Feddersen
- & Lene Christiansen
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Article |
Effects of autozygosity and schizophrenia polygenic risk on cognitive and brain developmental trajectories
- Aldo Córdova-Palomera
- , Tobias Kaufmann
- & Lars T. Westlye
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Brief Communication |
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
- Ceren Tunca
- , Fulya Akçimen
- & A. Nazlı Başak
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Article |
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy
- David Araújo-Vilar
- , Rosario Domingo-Jiménez
- & Sofía Sánchez-Iglesias
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Article |
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity
- Xia Li
- , Sibylle Poschmann
- & Qing Kenneth Wang
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Article |
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
- Nicolas Lebrun
- , Irina Giurgea
- & Thierry Bienvenu
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