E-LIB Suche - Ergebnisse für: Farinelli, Pietro

1

An atypical form of 60S ribosomal subunit in Diamond-Blackf..:

Fellmann, Florence ; Saunders, Carol ; O'Donohue, Marie-Françoise...
JCI Insight. , 2024

2

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

CEP78 functions downstream of CEP350 to control biogenesis ..:

Gonçalves, André Brás ; Hasselbalch, Sarah Kirstine ; Joensen, Beinta Biskopstø...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

4

Functional characterization of the first missense variant i..:

Ascari, Giulia ; Peelman, Frank ; Farinelli, Pietro...
Human Mutation. 41 (2020) 5 - p. 998-1011 , 2020

Link: https://doi.org/10.1002/..

5

A frequent variant in the Japanese population determines qu..:

Nikopoulos, Konstantinos ; Cisarova, Katarina ; Quinodoz, Mathieu...
Nature Communications. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

6

IFT20 modulates ciliary PDGFRα signaling by regulating the ..:

Schmid, Fabian Marc ; Schou, Kenneth Bødtker ; Vilhelm, Martin Juel...
Journal of Cell Biology. 217 (2017) 1 - p. 151-161 , 2017

Link: https://doi.org/10.1083/..

7

Mutations in the polyglutamylase geneTTLL5, expressed in ph..:

Bedoni, Nicola ; Haer-Wigman, Lonneke ; Vaclavik, Veronika...
Human Molecular Genetics. , 2016

Link: https://doi.org/10.1093/..

8

Isolated and Syndromic Retinal Dystrophy Caused by Bialleli..:

Coppieters, Frauke ; Ascari, Giulia ; Dannhausen, Katharina...
The American Journal of Human Genetics. 99 (2016) 2 - p. 470-480 , 2016

Link: https://doi.org/10.1016/..

9

Identification of a Common Non-Apoptotic Cell Death Mechani..:

Arango-Gonzalez, Blanca ; Trifunović, Dragana ; Sahaboglu, Ayse...
PLoS ONE. 9 (2014) 11 - p. e112142 , 2014

Link: https://doi.org/10.1371/..

10

Retinitis Pigmentosa: over‐expression of anti‐ageing protei..:

Farinelli, Pietro ; Arango‐Gonzalez, Blanca ; Völkl, Jakob...
Journal of Neurochemistry. 127 (2013) 6 - p. 868-879 , 2013

Link: https://doi.org/10.1111/..

11

Calpain and PARP Activation during Photoreceptor Cell Death..:

Kaur, Jasvir ; Mencl, Stine ; Sahaboglu, Ayse...
PLoS ONE. 6 (2011) 7 - p. e22181 , 2011

Link: https://doi.org/10.1371/..

12

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M ; Hitti-Malin, Rebekkah J ; Holtes, Lara K...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

Link: http://hdl.handle.net/10..

13

Angiomotin isoform 2 promotes binding of PALS1 to KIF13B at..:

Morthorst, Stine Kjær ; Nielsen, Camilla ; Farinelli, Pietro...
0021-9533. , 2022

Link: https://dspace.library.u..

14

CEP78 functions downstream of CEP350 to control biogenesis ..:

Gonçalves, André Brás ; Hasselbalch, Sarah Kirstine ; Joensen, Beinta Biskopstø...
Gonçalves , A B , Hasselbalch , S K , Joensen , B B , Patzke , S , Martens , P , Ohlsen , S K , Quinodoz , M , Nikopoulos , K , Suleiman , R , Jeppesen , M P D , Weiss , C , Christensen , S T , Rivolta , C , Andersen , J S , Farinelli , P & Pedersen , L B 2021 , ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ' , eLife , vol. 10 , e63731 . https://doi.org/10.7554/eLife.63731. , 2021

Link: https://portal.findresea..

15

Functional characterization of the first missense variant i..:

Ascari, Giulia ; Peelman, Frank ; Farinelli, Pietro...
https://mediatum.ub.tum.de/1552107. , 2020

Link: https://mediatum.ub.tum...