E-LIB Suche - Ergebnisse für: Fratta, Pietro

1

UNC13A in amyotrophic lateral sclerosis: from genetic assoc..:

Willemse, Sean W ; Harley, Peter ; van Eijk, Ruben PA...
https://discovery.ucl.ac.uk/id/eprint/10164625/1/jnnp-2022-330504.full.pdf. , 2023

Link: https://discovery.ucl.ac..

2

The era of cryptic exons: implications for ALS-FTD:

Mehta, Puja R ; Brown, Anna-Leigh ; Ward, Michael E.
https://discovery.ucl.ac.uk/id/eprint/10167095/1/s13024-023-00608-5.pdf. , 2023

Link: https://discovery.ucl.ac..

3

Genome-wide structural variant analysis identifies risk loc..:

Kaivola, Karri ; Chia, Ruth ; Ding, Jinhui...
https://linkinghub.elsevier.com/retrieve/pii/S2666979X23000848. , 2023

Link: http://orbilu.uni.lu/han..

4

ProtPipe: A Multifunctional Data Analysis Pipeline for Prot..:

Li, Ziyi ; Weller, Cory A ; Shah, Syed...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760195/. , 2023

Link: http://www.ncbi.nlm.nih...

5

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, Matteo ; Ibáñez, Kristina ; Brown, Anna-Leigh...
https://discovery.ucl.ac.uk/id/eprint/10165321/7/Zanovello_awad050.pdf. , 2023

Link: https://discovery.ucl.ac..

6

The era of cryptic exons: implications for ALS-FTD:

Mehta, Puja R ; Brown, Anna-Leigh ; Ward, Michael E.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018954/. , 2023

Link: http://www.ncbi.nlm.nih...

7

Opinion: more mouse models and more translation needed for ..:

Fisher, Elizabeth MC ; Greensmith, Linda ; Malaspina, Andrea...
https://discovery.ucl.ac.uk/id/eprint/10169701/1/s13024-023-00619-2.pdf. , 2023

Link: https://discovery.ucl.ac..

8

Mis-spliced transcripts generate de novo proteins in TDP-43..:

Seddighi, Sahba ; Qi, Yue A ; Brown, Anna-Leigh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900763/. , 2023

Link: http://www.ncbi.nlm.nih...

9

Creation of de novo cryptic splicing for ALS/FTD precision ..:

Wilkins, Oscar G ; Chien, Max Z.Y.J ; Wlaschin, Josette J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680699/. , 2023

Link: http://www.ncbi.nlm.nih...

10

NOS1AP is a novel molecular target and critical factor in T..:

Cappelli, Sara ; Spalloni, Alida ; Visani, Giulia...
info:eu-repo/semantics/altIdentifier/pmid/36267332. , 2022

Link: https://hdl.handle.net/1..

11

Cell environment shapes TDP-43 function with implications i..:

Šušnjar, Urša ; Škrabar, Neva ; Brown, Anna-Leigh...
info:eu-repo/semantics/altIdentifier/pmid/35383280. , 2022

Link: https://hdl.handle.net/1..

12

Cell environment shapes TDP-43 function with implications i..:

Šušnjar, Urša ; Škrabar, Neva ; Brown, Anna-Leigh...
https://repository.cshl.edu/id/eprint/40655/1/2022.susnjar.shapes.tdp43.pdf. , 2022

Link: https://repository.cshl...

13

NOS1AP is a novel molecular target and critical factor in T..:

Cappelli, Sara ; Spalloni, Alida ; Feiguin, Fabian...
info:eu-repo/semantics/altIdentifier/pmid/36267332. , 2022

Link: https://hdl.handle.net/1..

14

NOS1AP is a novel molecular target and critical factor in T..:

Cappelli, Sara ; Spalloni, Alida ; Feiguin, Fabian...
qt0wz017kw. , 2022

Link: https://escholarship.org..

15

Cell environment shapes TDP-43 function with implications i..:

Šušnjar, Urša ; Škrabar, Neva ; Brown, Anna-Leigh...
https://discovery.ucl.ac.uk/id/eprint/10146767/1/s42003-022-03253-8.pdf. , 2022

Link: https://discovery.ucl.ac..