Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
《神经学：遗传学》是一本在线开放获取期刊，发表神经遗传学领域的同行评议报告。将发表神经遗传学所有领域的原创文章，包括罕见和常见的遗传变异、基因型-表型相关性、已知疾病基因突变导致的离群表型，以及与疾病相关的遗传变异。这将包括报告遗传疾病风险和药物基因组学的研究。此外，神经病学：Genetics将发布基于基因的临床试验结果（病毒、阿索等）。基因工程模型系统不是神经病学的主要重点：遗传学，但使用模型系统进行治疗试验的研究是受欢迎的，包括报告阴性结果的把握度良好的研究。
Genetic risk of Parkinson disease and progression:
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000348
Antisense oligonucleotides
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000323
Psychometric properties of the Friedreich Ataxia Rating Scale
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000371
Impaired kidney structure and function in spinal muscular atrophy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000353
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000303
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000349
Migraine polygenic risk score associates with efficacy of migraine-specific drugs
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000364
Genomic variation in educational attainment modifies Alzheimer disease risk
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000310
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000338
Congenital myopathies in the adult neuromuscular clinic
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000341
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000320
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000318
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000315
Copy number variation of LINGO1 in familial dystonic tremor
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000307
HTT haplogroups in Finnish patients with Huntington disease
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000334
HACE1 deficiency leads to structural and functional neurodevelopmental defects
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000330
Oligogenic basis of sporadic ALS
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000335
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000339
Next-generation sequencing approach to hyperCKemia
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000352
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000337
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000332
Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000386
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000345
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000365
Epilepsy with migrating focal seizures
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000363
Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000331
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000357
Missense mutations in DYT-TOR1A dystonia
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000350
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000374
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000359
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000328
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000366
Yield of comparative genomic hybridization microarray in pediatric neurology practice
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000367
Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000382
Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000313
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000378
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000346
2018: Year in Review and Message from the Editors to Our Reviewers
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000309
Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000355
Myelopathy in a patient with leukodystrophy due to CSF1R mutation
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000376
Proceedings of the 24th International Stroke Genetics Consortium Workshop: Washington, DC, USA
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000325
Epidemiology of DYT1 dystonia
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000358
X-linked myotubular myopathy and recurrent spontaneous pneumothorax
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000327
Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000351
Galloping tongue syndrome in a PRRT2 mutation carrier
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000377
Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3′ UTR of collagen type IV alpha 1
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000383
Human GABRG2 generalized epilepsy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000340
Rating scales for rare neurological diseases
来源期刊：Neurology: GeneticsDOI：10.1212/nxg.0000000000000380
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000388
Altered CSF levels of monoamines in hereditary spastic paraparesis 10
来源期刊：Neurology: GeneticsDOI：10.1212/NXG.0000000000000344
