E-LIB Suche - Ergebnisse für: Ferla, Matteo P.

1

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023

2

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J. ; Schuller, Marion...
Proceedings of the National Academy of Sciences. 120 (2023) 2 - p. , 2023

Link: https://doi.org/10.1073/..

3

DogCatcher allows loop-friendly protein-protein ligation:

Keeble, Anthony H. ; Yadav, Vikash K. ; Ferla, Matteo P....
Cell Chemical Biology. 29 (2022) 2 - p. 339-350.e10 , 2022

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

4

Venus: Elucidating the Impact of Amino Acid Variants on Pro..:

Ferla, Matteo P. ; Pagnamenta, Alistair T. ; Koukouflis, Leonidas..
Journal of Molecular Biology. 434 (2022) 11 - p. 167567 , 2022

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

5

GM1‐Gangliosidosis TypeIIIAssociated Parkinsonism:

Kaiyrzhanov, Rauan ; Guliyeva, Ulviyya ; Gulieva, Sughra...
Movement Disorders Clinical Practice. 8 (2021) S1 - p. , 2021

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

6

Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 iden..:

Schuller, Marion ; Correy, Galen J. ; Gahbauer, Stefan...
Science Advances. 7 (2021) 16 - p. , 2021

Link: https://doi.org/10.1126/..

7

Biallelic variants in SLC38A3 encoding a glutamine transpor..:

Marafi, Dana ; Fatih, Jawid M ; Kaiyrzhanov, Rauan...
Brain. 145 (2021) 3 - p. 909-924 , 2021

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

8

Expanding the phenotypic spectrum of BCS1L‐related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
Annals of Clinical and Translational Neurology. 8 (2021) 11 - p. 2155-2165 , 2021

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

9

Pervasive cooperative mutational effects on multiple cataly..:

Acevedo-Rocha, Carlos G. ; Li, Aitao ; D'Amore, Lorenzo...
Nature Communications. 12 (2021) 1 - p. , 2021

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

10

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, Alistair T ; Diaz-Gonzalez, Francisca ; Banos-Pinero, Benito...
Journal of Medical Genetics. 59 (2021) 10 - p. 947-950 , 2021

Link: https://doi.org/10.1136/..

11

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1083-1094 , 2021

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

12

Commentary:GM1‐Gangliosidosis TypeIIIAssociated Parkinsonis:

Kurian, Manju A. ; Kaiyrzhanov, Rauan ; Allahyarova, Parvin...
Movement Disorders Clinical Practice. 8 (2021) S1 - p. , 2021

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

13

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain. 144 (2021) 12 - p. 3597-3610 , 2021

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

14

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
Brain. 144 (2021) 2 - p. 584-600 , 2021

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

15

MichelaNglo: sculpting protein views on web pages without c..:

Ferla, Matteo P ; Pagnamenta, Alistair T ; Damerell, David...
Bioinformatics. 36 (2020) 10 - p. 3268-3270 , 2020

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