Literature DB >> 32858489

Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy.

Marina Picillo1, Marianna Amboni2, Amalia Bruni3, Raffaele Maletta3, Paolo Barone4.   

Abstract

Entities:  

Keywords:  Genetics; Heterozygosity; Niemann-Pick; Progressive supranuclear palsy

Mesh：

Year:  2020        PMID： 32858489     DOI： 10.1016/j.parkreldis.2020.08.013

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  1 in total

1.  Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.

Authors:  Luca Marsili; Jennifer Sharma; Alberto J Espay; Alice Migazzi; Elhusseini Abdelghany; Emily J Hill; Kevin R Duque; Matthew C Hagen; Christopher D Stephen; Gabor G Kovacs; Anthony E Lang; Marios Hadjivassiliou; Manuela Basso; Marcelo A Kauffman; Andrea Sturchio
Journal:  Int J Mol Sci       Date:  2021-07-07       Impact factor: 5.923
  1 in total

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