psen1 mutation
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A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism

2021 ◽  
Author(s):  
Yueting Chen ◽  
Peng Liu ◽  
Fei Xie ◽  
Bo Wang ◽  
Zhiru Lin ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Psen1 Mutation

PSEN1 mutation likely contributes to U1 snRNA dysregulation and Alzheimer’s disease-like symptoms

2021 ◽  
Author(s):  
Zhi Cheng ◽  
Yingchun Shang ◽  
Xinxin Xu ◽  
Zhiqiang Dong ◽  
Yongwang Zhang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Psen1 Mutation ◽  
U1 Snrna

Phenotypic heterogeneity of the rare R377W PSEN1 mutation: Late‐onset presentation with mixed Alzheimer’s and frontotemporal dementia features

2020 ◽  
Vol 16 (S3) ◽  
Author(s):  
Marta Scarioni ◽  
Andrea Arighi ◽  
Chiara Fenoglio ◽  
Maria Serpente ◽  
Emanuela Rotondo ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

scholarly journals Late‐onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation

2020 ◽  
Vol 27 (12) ◽  
pp. 2630-2634
Author(s):  
M. Scarioni ◽  
A. Arighi ◽  
C. Fenoglio ◽  
F. Sorrentino ◽  
M. Serpente ◽  
...  
Keyword(s):  
Late Onset ◽  
Phenotypic Heterogeneity ◽  
Psen1 Mutation

Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation

2020 ◽  
Vol 19 (5) ◽  
pp. 744-747
Author(s):  
Yury Seliverstov ◽  
Ilya Kanivets ◽  
Sergey Illarioshkin
Keyword(s):  
Spinocerebellar Ataxia ◽  
Psen1 Mutation

Frontal Variant of Alzheimer’s Disease: A Report of a Novel PSEN1 Mutation

2019 ◽  
Vol 70 (1) ◽  
pp. 11-15
Author(s):  
Fiammetta Monacelli ◽  
Lucia Martella ◽  
Maria Nives Parodi ◽  
Patrizio Odetti ◽  
Francesca Fanelli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Psen1 Mutation

scholarly journals P4-260: NEUROIMAGING CORRELATES OF PSEN1 MUTATION-RELATED SPASTIC PARAPARESIS

2019 ◽  
Vol 15 ◽  
pp. P1380-P1380
Author(s):  
Yonggang Shi ◽  
Yuchuan Qiao ◽  
Junyan Wang ◽  
Melanie D. Sweeney ◽  
Lucy Montoya ◽  
...  
Keyword(s):  
Spastic Paraparesis ◽  
Psen1 Mutation

scholarly journals P1-123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION

2019 ◽  
Vol 15 ◽  
pp. P282-P282
Author(s):  
John M. Ringman ◽  
Naghmeh Dorrani ◽  
Rebecca Signer ◽  
Julian Martinez-Agosto ◽  
Hane Lee ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Young Onset ◽  
Psen1 Mutation ◽  
Autosomal Dominant Alzheimer’S Disease
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