E-LIB Suche - Ergebnisse für: Hengel, H. (Holger)

1

Factors Influencing Health-Related Quality of Life of Patie..:

Weber, Niklas ; Buchholz, Maresa ; Rädke, Anika...
The Cerebellum. , 2024

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

2

FARS‐ADL across Ataxias: Construct Validity, Sensitivity to..:

Traschütz, Andreas ; Fleszar, Zofia ; Hengel, Holger...
Movement Disorders. , 2024

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

3

SCAview: an Intuitive Visual Approach to the Integrative An..:

Uebachs, Mischa ; Wegner, Philipp ; Schaaf, Sebastian...
The Cerebellum. 23 (2023) 3 - p. 887-895 , 2023

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

4

Health-Related Quality of Life in Patients with Spinocerebe..:

Buchholz, Maresa ; Weber, Niklas ; Rädke, Anika...
The Cerebellum. 23 (2023) 3 - p. 1020-1030 , 2023

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

5

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1069-1082 , 2021

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

6

PolyQ-expanded ataxin-3 protein levels in peripheral blood ..:

Gonsior, Kathrin ; Kaucher, Gabriele Anna ; Pelz, Patrik...
Journal of Neurology. 268 (2020) 4 - p. 1304-1315 , 2020

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

7

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, H. (Holger) ; Bosso-Lefèvre, C. (Célia) ; Grady, G. (George)...
http://repub.eur.nl/pub/124422. , 2020

Link: http://repub.eur.nl/pub/..

8

Prediction of Survival With Long‐Term Disease Progression i..:

Diallo, Alhassane ; Jacobi, Heike ; Cook, Arron...
Movement Disorders. 34 (2019) 8 - p. 1220-1227 , 2019

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

9

Long-term evolution of patient-reported outcome measures in..:

Jacobi, Heike ; du Montcel, Sophie Tezenas ; Bauer, Peter...
Journal of Neurology. 265 (2018) 9 - p. 2040-2051 , 2018

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

10

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Adam Jackson ; Sheng-Jia Lin ; Elizabeth A. Jones...
http://www.sciencedirect.com/science/article/pii/S2666247723000180. , 2023

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

11

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

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

12

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B ; Dyack, Sarah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206390/. , 2021

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

13

PolyQ-expanded ataxin-3 protein levels in peripheral blood ..:

Gonsior, Kathrin ; Kaucher, Gabriele Anna ; Rattay, Tim...
info:eu-repo/semantics/altIdentifier/issn/0939-1517. , 2021

Link: https://pub.dzne.de/reco..

14

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B ; Alzaidan, Hamad...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34022130. , 2021

Link: https://pub.dzne.de/reco..

15

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B ; Dyack, Sarah...
https://mediatum.ub.tum.de/1616867. , 2021

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