Peter B Kang
Peter B Kang
Paula T Marques,Nagham Kaka,Quratulain Zulfiqar Ali et al.
Paula T Marques et al.
Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. Howev...
A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP [0.03%]
TMEM106B位点的一个3' UTR插入序列是FTLD-TDP易感性增加的候选因果变异
Augustine Chemparathy,Yann Le Guen,Yi Zeng et al.
Augustine Chemparathy et al.
Background and objectives: Single-nucleotide variants near TMEM106B associate with the risk of frontotemporal lobar dementia with TDP-43 inclusions (FTLD-TDP) and Alzheimer disease (AD) in genome-wide association studies ...
UK Biobank-A Unique Resource for Discovery and Translation Research on Genetics and Neurologic Disease [0.03%]
英国生物样本库：遗传和神经疾病发现与转化研究的独特资源
Hannah Taylor,Melissa Lewins,M George B Foody et al.
Hannah Taylor et al.
UK Biobank is a large-scale prospective study with extensive genetic and phenotypic data from half a million adults. Participants, aged 40 to 69, were recruited from the general UK population between 2006 and 2010. During recruitment, parti...
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic Review [0.03%]
皮质发育轻度畸形伴少突胶质细胞增生和癫痫的系统评价
Yixin Zhan,Shijia Chen,Zhenghan Jin et al.
Yixin Zhan et al.
Background and objectives: Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a newly described rare entity of drug-resistant epilepsy, with a wide spectrum of presentation...
Ten Years of Neurology® Genetics: Reflecting on the Past, Inspiring the Future [0.03%]
《神经病学》遗传学10年：回顾过去，展望未来
Stefan M Pulst
Stefan M Pulst
Nicholas Karagas,Jessica E Young,Elizabeth E Blue et al.
Nicholas Karagas et al.
Alzheimer disease (AD), the most common dementing syndrome in the United States, is currently established by the presence of amyloid-β and tau protein biomarkers in the setting of clinical cognitive impairment. These straightforward diagno...
Stefan M Pulst
Stefan M Pulst
Spinocerebellar ataxias (SCAs) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. This review examines the progress that has been made in SCA2 from its initial clinical ...
Luca Verrecchia,Victor Alm,Håkan Thonberg et al.
Luca Verrecchia et al.
Objectives: Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this artic...
Massimo Pandolfo
Massimo Pandolfo
In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (...