Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry.All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
神经遗传学发表的发现有助于更好地理解神经系统正常和异常功能的遗传基础。神经遗传疾病是该杂志的主要关注点。因此，神经遗传学包括在人类和其他生物体中的发现，有助于理解神经疾病的机制，并发表许多不同领域的论文，如生物物理学、细胞生物学、人类遗传学、神经解剖学、神经化学、神经学、神经病理学、神经外科和精神病学。所有提交给神经遗传学的论文都应具有足够的紧迫重要性，以证明有必要紧急发表。他们应该提出新的科学成果。仅证实先前发表结果的数据不可接受。
Nervous NDRGs: the N-myc downstream–regulated gene family in the central and peripheral nervous system
来源期刊：NeurogeneticsDOI：10.1007/s10048-019-00587-0
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes
来源期刊：NeurogeneticsDOI：10.1007/s10048-019-00565-6
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00595-0
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00571-8
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00572-7
Clinical and molecular studies in two new cases of ARSACS
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00564-7
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00584-3
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00575-4
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00582-5
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00578-1
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00583-4
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00577-2
Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00588-z
Customized multigene panels in epilepsy: the best things come in small packages
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00598-x
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00599-w
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00594-1
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00576-3
Infectious stress triggers a POLG-related mitochondrial disease
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00593-2
A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00592-3
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00586-1
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus
来源期刊：NeurogeneticsDOI：10.1007/s10048-019-00579-0
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00573-6
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00596-z
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00591-4
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00581-6
Acknowledgement to referees 2018/2019
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00589-y
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00597-y
Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00585-2
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00569-2
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00570-9
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00580-7
PTCD3 mutations cause Leigh-like rather than Leigh syndrome
来源期刊：neurogeneticsDOI：10.1007/s10048-019-00566-5
