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  • 期刊=Neural Regeneration Researchx
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Cryptic exon inclusion in TDP-43 proteinopathies:opportunities and challenges
《Neural Regeneration Research》2025年第7期2003-2004,共2页Lorena Decker Sonja Menge Axel Freischmidt 
supported by the Deutsche Forschungsgemeinschaft(DFG;grant#521487152)(to AF)。
TDP-43 proteinopathies and cryptic exons:Transactive response DNA binding protein of 43 kDa(TDP-43)is a ubiquitously expressed RNA/DNA binding protein crucial for coding and non-coding RNA metabolism including transcr...
关键词：HUNTINGTON METABOLISM TDP 
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression被引量：1
《Neural Regeneration Research》2022年第11期2530-2536,共7页Li-Li Du Jun-Jie Sun Zhi-Heng Chen Yi-Xiang Shao Liu-Cheng Wu 
the National Natural Science Foundation of China,No.32000841(to JJS);a grant from Science and Technology Project of Nantong of Jiangsu Province,No.JC2018090(to LCW);a grant from Graduate Research and Innovation Project of Jiangsu Province,No.KYCX18-2415(to LLD)。
Spinal muscular atrophy(SMA)is a rare hereditary neuromuscular disease with a high lethality rate in infants.Variants in the homologous genes survival of motor neuron(SMN)1 and SMN2 have been reported to be SMA pathog...
关键词：exon 7 inclusion motor neuron neuro-oncological ventral antigen 1 SMN2 splicing spinal cord spinal muscular atrophy splicing factors UCAC motif 
Clinical manifestations and gene mutation in a case of Machado-Joseph disease被引量：1
《Neural Regeneration Research》2012年第35期2842-2847,共6页Bin Zhang Liru Li Longxing Chen Jie Huang 
funded by Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101,2011-110
This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission sh...
关键词：machado-Joseph disease clinical characteristics IMAGING molecular genetics spinocerebellarataxia-3 gene gene mutation exon 10 spinocerebellar ataxia nervous system disease 
A case of hereditary multi-infarct dementia Mutation in exon 11 of the Notch3 gene on chromosome 19
《Neural Regeneration Research》2011年第35期2779-2783,共5页Jie Huang Liru Li Bin Zhang Ting Zhang 
the National Natural Science Foundation of China,No,31100783;Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101
This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accom...
关键词：cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy clinical manifestation magnetic resonance imaging molecular genetics Notch3 gene neural regeneration 
Point mutation in exon 4 of presenilin-1 gene and early-onset familial Alzheimer disease被引量：1
《Neural Regeneration Research》2006年第6期493-496,共4页Yu Liao Fan Zhao 
BACKGROUND: A total of 50 missense mutations of presenilin-1 (PS-1) have been found thus far in early-onset familial Alzheimer disease (EOFAD), PS-1 gene might be a causative gene for Chinese EOFAD. OBJECTIVE: To inve...
关键词：外显子4 基因突变 阿尔兹海默症 病理机制 
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