E-LIB Suche - Ergebnisse für: Cumming, Sarah A

1

Somatic CAG repeat instability in intermediate alleles of t..:

Ruiz de Sabando, Ainara ; Ciosi, Marc ; Galbete, Arkaitz...
European Journal of Human Genetics. , 2024

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

2

Longitudinal changes in white matter as measured with diffu..:

Koscik, Timothy R. ; van der Plas, Ellen ; Long, Jeffrey D....
Neuromuscular Disorders. 33 (2023) 8 - p. 660-669 , 2023

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

3

Masseter muscle volume as a disease marker in adult-onset m..:

Oliwa, Agata ; Hocking, Clarissa ; Hamilton, Mark J...
Neuromuscular Disorders. 32 (2022) 11-12 - p. 893-902 , 2022

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

4

Blood-Based Markers of Neuronal Injury in Adult-Onset Myoto..:

van der Plas, Ellen ; Long, Jeffrey D. ; Koscik, Timothy R....
Frontiers in Neurology. 12 (2022) - p. , 2022

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

5

Clinical and neuroradiological correlates of sleep in myoto..:

Hamilton, Mark J ; Atalaia, Antonio ; McLean, John...
Neuromuscular Disorders. 32 (2022) 5 - p. 377-389 , 2022

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

6

Cognitive Deficits, Apathy, and Hypersomnolence Represent t..:

Miller, Jacob N. ; Kruger, Alison ; Moser, David J....
Frontiers in Neurology. 12 (2021) - p. , 2021

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

7

Approaches to Sequence the HTT CAG Repeat Expansion and Qua..:

Ciosi, Marc ; Cumming, Sarah A. ; Chatzi, Afroditi...
Journal of Huntington's Disease. 10 (2021) 1 - p. 53-74 , 2021

Link: https://doi.org/10.3233/..

8

White matter microstructure relates to motor outcomes in my..:

Koscik, Timothy R. ; van der Plas, Ellen ; Gutmann, Laurie...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

9

A DM1 patient with CCG variant repeats: Reaching the diagno..:

Cumming, Sarah A. ; Oliwa, Agata ; Stevens, Gillian...
Neuromuscular Disorders. 31 (2021) 3 - p. 232-238 , 2021

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

10

The Need for Establishing a Universal CTG Sizing Method in ..:

Ballester-Lopez, Alfonsina ; Linares-Pardo, Ian ; Koehorst, Emma...
Genes. 11 (2020) 7 - p. 757 , 2020

Link: https://doi.org/10.3390/..

11

Towards development of a statistical framework to evaluate ..:

Kurkiewicz, Adam ; Cooper, Anneli ; McIlwaine, Emily...
PLOS ONE. 15 (2020) 4 - p. e0231000 , 2020

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

12

Change over time in ability to perform activities of daily ..:

Landfeldt, Erik ; Nikolenko, Nikoletta ; Jimenez-Moreno, Cecilia...
Journal of Neurology. 267 (2020) 11 - p. 3235-3242 , 2020

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

13

Activities of daily living in myotonic dystrophy type 1:

Landfeldt, Erik ; Nikolenko, Nikoletta ; Jimenez‐Moreno, Cecilia...
Acta Neurologica Scandinavica. 141 (2020) 5 - p. 380-387 , 2020

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

14

Preliminary Findings on CTG Expansion Determination in Diff..:

Ballester-Lopez, Alfonsina ; Koehorst, Emma ; Linares-Pardo, Ian...
Genes. 11 (2020) 11 - p. 1321 , 2020

Link: https://doi.org/10.3390/..

15

A DM1 family with interruptions associated with atypical sy..:

Ballester‐Lopez, Alfonsina ; Koehorst, Emma ; Almendrote, Miriam...
Human Mutation. 41 (2019) 2 - p. 420-431 , 2019

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