E-LIB Suche - Ergebnisse für: Fortuna, Tyler R.

1

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics. 32 (2024) 4 - p. 426-434 , 2024

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

2

SMN regulates GEMIN5 expression and acts as a modifier of G..:

Fortuna, Tyler R. ; Kour, Sukhleen ; Chimata, Anuradha Venkatakrishnan...
Acta Neuropathologica. 146 (2023) 3 - p. 477-498 , 2023

Link: https://doi.org/10.1007/..

3

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S. ; Kour, Sukhleen ; Fortuna, Tyler R....
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

4

Pathogenic variants of Valosin‐containing protein induce ly..:

Ferrari, Veronica ; Cristofani, Riccardo ; Cicardi, Maria E....
Neuropathology and Applied Neurobiology. 48 (2022) 5 - p. , 2022

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

5

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S. ; Fortuna, Tyler R....
Nature Communications. 12 (2021) 1 - p. , 2021

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

6

DDX17 is involved in DNA damage repair and modifies FUS tox..:

Fortuna, Tyler R. ; Kour, Sukhleen ; Anderson, Eric N....
Acta Neuropathologica. , 2021

Link: https://doi.org/10.1007/..

7

Optogenetic TDP-43 nucleation induces persistent insoluble ..:

Otte, Charlton G. ; Fortuna, Tyler R. ; Mann, Jacob R....
Neurobiology of Disease. 146 (2020) - p. 105078 , 2020

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

8

Cytotoxicity of Urban Dust and Diesel Exhaust Particulates ..:

Fortuna, Tyler R ; Price, Peyton C ; Lopez, Kevin J..
The FASEB Journal. 31 (2017) S1 - p. , 2017

Link: https://doi.org/10.1096/..

9

CLIP-Seq analysis enables the design of protective ribosoma..:

Ortega, Juan A ; Sasselli, Ivan R ; Boccitto, Marco...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

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

10

Supplementary Materials for CLIP-Seq analysis enables the d..:

Ortega, Juan A ; Sasselli, Ivan R ; Boccitto, Marco...
Publisher's version. , 2023

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

11

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S ; Kour, Sukhleen ; Fortuna, Tyler R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918504/. , 2022

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

12

Pathogenic variants of Valosin Containing Protein induce ly..:

Ferrari, Veronica ; Cristofani, Riccardo ; Cicardi, Maria E...
info:eu-repo/semantics/altIdentifier/pmid/35501124. , 2022

Link: http://hdl.handle.net/24..

13

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S ; Kour, Sukhleen ; Fortuna, Tyler R...
Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14. , 2022

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

14

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S ; Fortuna, Tyler R...
http://urn.nb.no/URN:NBN:no-95561. , 2022

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

15

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S ; Fortuna, Tyler R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105379/. , 2021

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