Featured
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Short Report |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
- Jamal Ghoumid
- , Florence Petit
- & Sylvie Manouvrier-Hanu
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Article |
Loss of Function of KCNC1 is associated with intellectual disability without seizures
- Karine Poirier
- , Géraldine Viot
- & Thierry Bienvenu
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Article |
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
- Alma Osmanovic
- , Isolde Rangnau
- & Ruthild G Weber
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Article |
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology
- Christoph Pröschel
- , Jeanne N Hansen
- & Alex R Paciorkowski
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Article |
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning
- Kenichiro Taniguchi
- , Anoush E Anderson
- & David Wotton
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Article |
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
- Liena E O Elsayed
- , Inaam N Mohammed
- & Giovanni Stevanin
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Article |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
- Gabrielle Rudolf
- , Gaetan Lesca
- & Pierre Szepetowski
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Short Report |
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
- Stéphanie David
- , Joana Ferreira
- & Gaël Nicolas
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Article
| Open AccessA splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria
- Fuencisla Matesanz
- , María Fedetz
- & Antonio Alcina
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Article |
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
- Massimiliano Filosto
- , Massimo Aureli
- & Alessandro Padovani
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Article |
Heritability of non-speech auditory processing skills
- Carmen C Brewer
- , Christopher K Zalewski
- & David R Moore
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Short Report |
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
- Gaetano Terrone
- , Norine Voisin
- & Alexandre Reymond
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Short Report
| Open AccessDe novo variants in sporadic cases of childhood onset schizophrenia
- Amirthagowri Ambalavanan
- , Simon L Girard
- & Guy A Rouleau
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Short Report |
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
- Daria Diodato
- , Giorgio Tasca
- & Enrico Bertini
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Article |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
- Lucas M Bronicki
- , Claire Redin
- & Arthur S Aylsworth
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Article |
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism
- Camila Oliveira Freitas Machado
- , Karina Griesi-Oliveira
- & Andrea Laurato Sertie
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Article |
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
- Reymundo Lozano
- , Arianna Vino
- & Pelagia Deriziotis
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Article |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
- Lena Damaj
- , Alexis Lupien-Meilleur
- & Elsa Rossignol
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Article |
Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease
- Eva C Schulte
- , Akio Fukumori
- & Juliane Winkelmann
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Article
| Open AccessAssociation of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia
- Alessia Fiorentino
- , Sally I Sharp
- & Andrew McQuillin
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Article |
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
- Przemyslaw Szafranski
- , Sailaja Golla
- & Paweł Stankiewicz
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Article |
The dystrophin gene and cognitive function in the general population
- Dina Vojinovic
- , Hieab HH Adams
- & Najaf Amin
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Article |
Phenome-wide association studies (PheWASs) for functional variants
- Zhan Ye
- , John Mayer
- & Scott J Hebbring
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Article |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
- Gabriella Livide
- , Tommaso Patriarchi
- & Ilaria Meloni
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Article |
Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease
- Jin Zhang
- , Zhi-Xia Zhang
- & Xiao-Ping Dong
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Letter |
Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population
- Dingguo Qian
- , Mengyuan Kan
- & Yun Liu
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Article
| Open AccessHomozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
- Fabiola Ceroni
- , Nuala H Simpson
- & Dianne F Newbury
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Article
| Open AccessWHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease
- Nancy R Downing
- , Ji-In Kim
- & Jane S Paulsen
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Article |
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
- Amélie Piton
- , Hélène Poquet
- & Jean-Louis Mandel
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Clinical Utility Gene Card |
Clinical utility gene card for: Huntington’s disease
- Carsten Saft
- , Blair R Leavitt
- & Jörg T Epplen
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Article |
Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer
- Rhona MacLeod
- , Anna Beach
- & Lauren Kerzin-Storrar
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Article |
Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability
- Robert A Power
- , Craig Nagoshi
- & Robert Plomin
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Short Report |
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
- Solaf M Elsayed
- , Raoul Heller
- & Hanno J Bolz
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Review |
Shining a light on CNTNAP2: complex functions to complex disorders
- Pedro Rodenas-Cuadrado
- , Joses Ho
- & Sonja C Vernes
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Short Report |
Stargardt Disease: towards developing a model to predict phenotype
- Laura Heathfield
- , Miguel Lacerda
- & Rajkumar S Ramesar
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Short Report |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly
- Judith A Hobert
- , Rebecca Embacher
- & Charis Eng
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Article |
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
- Sureni V Mullegama
- , Jill A Rosenfeld
- & Sarah H Elsea
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Article |
Homozygosity analysis in amyotrophic lateral sclerosis
- Kin Mok
- , Hannu Laaksovirta
- & Richard W Orrell
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Article |
The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe
- Virginia Eatough
- , Helen Santini
- & Jonathan A Smith
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Article |
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
- Cristina Dias
- , Allison McDonald
- & Cornelius F Boerkoel
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Short Report |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
- Anne Frühmesser
- , Jonathon Blake
- & Dieter Kotzot
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Article |
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals
- Amélie Piton
- , Loubna Jouan
- & Guy A Rouleau
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Article |
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
- Tua Vinther-Jensen
- , Jakob Ek
- & Troels Tolstrup Nielsen
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Article |
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
- Barbara Wiśniowiecka-Kowalnik
- , Monika Kastory-Bronowska
- & Paweł Stankiewicz
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Policy
| Open AccessEMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
- Monique Losekoot
- , Martine J van Belzen
- & David E Barton
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Article |
When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada
- Alice K Hawkins
- , Susan Creighton
- & Michael R Hayden
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Letter |
Do regulatory regions matter in FOXG1 duplications?
- Antonio Falace
- , Nicola Vanni
- & Federico Zara
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Short Report |
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia
- Véronique V Belzil
- , Hussein Daoud
- & Guy A Rouleau
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