E-LIB Suche - Ergebnisse für: Németh, Andrea H.

1

Neuropathy target esterase activity defines phenotypes amon..:

Liu, James ; He, Yi ; Lwin, Cara...
Brain. 147 (2024) 6 - p. 2085-2097 , 2024

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

2

Quantitative Gait and Balance Outcomes for Ataxia Trials: C..:

Ilg, Winfried ; Milne, Sarah ; Schmitz-Hübsch, Tanja...
The Cerebellum. , 2023

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

3

Using Smartphone Sensors for Ataxia Trials: Consensus Guida..:

Németh, Andrea H. ; Antoniades, Chrystalina A. ; Dukart, Juergen...
The Cerebellum. 23 (2023) 3 - p. 912-923 , 2023

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

4

Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:

Beijer, Danique ; Fogel, Brent L. ; Beltran, Sergi...
The Cerebellum. 23 (2023) 2 - p. 391-400 , 2023

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

5

Quantitative Oculomotor Assessment in Hereditary Ataxia: Sy..:

Garces, Pilar ; Antoniades, Chrystalina A. ; Sobanska, Anna...
The Cerebellum. 23 (2023) 3 - p. 896-911 , 2023

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

6

Subthalamic nucleus shows opposite functional connectivity ..:

Evangelisti, Stefania ; Boessenkool, Sirius ; Pflanz, Chris Patrick...
Brain Communications. 5 (2023) 6 - p. , 2023

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

7

Quantitative Oculomotor Assessment in Hereditary Ataxia: Di..:

Garces, Pilar ; Antoniades, Chrystalina A. ; Sobanska, Anna...
The Cerebellum. 23 (2023) 1 - p. 121-135 , 2023

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

8

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine. 25 (2023) 10 - p. 100961 , 2023

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

9

Detection and Characterization of a De Novo Alu Retrotransp..:

Magrinelli, Francesca ; Rocca, Clarissa ; Simone, Roberto...
Movement Disorders. 38 (2022) 2 - p. 347-353 , 2022

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

10

Multimodal Analysis of the Visual Pathways in Friedreich's ..:

Thomas‐Black, Gilbert ; Altmann, Daniel R. ; Crook, Harry...
Movement Disorders. 38 (2022) 6 - p. 959-969 , 2022

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

11

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A....
Movement Disorders. 37 (2022) 7 - p. 1547-1554 , 2022

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

12

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/..

13

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology. 99 (2022) 14 - p. , 2022

Link: https://doi.org/10.1212/..

14

Targeted next generation sequencing and family survey enabl..:

Al-Khuzaei, Saoud ; Hudspith, Karl A. Z. ; Broadgate, Suzanne...
BMC Ophthalmology. 21 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

15

Whole genome sequencing in a Knobloch syndrome family confi..:

Patel, Chetan Khantibai ; Broadgate, Suzanne ; Shalaby, Ahmed...
Ophthalmic Genetics. 43 (2021) 2 - p. 201-209 , 2021

Link: https://doi.org/10.1080/..