E-LIB Suche - Ergebnisse für: Brice, Alexis

1

Long‐Read Sequencing Unravels the Complexity of Structural ..:

Cogan, Guillaume ; Daida, Kensuke ; Billingsley, Kimberley J....
Movement Disorders. , 2024

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

2

SCA27B/FGF14 : une ataxie peut en cacher une autre:

Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David...
Revue Neurologique. 180 (2024) - p. S69 , 2024

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

3

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

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

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

4

SARA captures disparate progression and responsiveness in s..:

Petit, Emilien ; Schmitz-Hübsch, Tanja ; Coarelli, Giulia...
Journal of Neurology. , 2024

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

5

Proxy-analysis of the genetics of cognitive decline in Park..:

Faouzi, Johann ; Tan, Manuela ; Casse, Fanny...
npj Parkinson's Disease. 10 (2024) 1 - p. , 2024

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

6

Genome-wide determinants of mortality and motor progression..:

Tan, Manuela M. X. ; Lawton, Michael A. ; Pollard, Miriam I....
npj Parkinson's Disease. 10 (2024) 1 - p. , 2024

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

7

CAG repeat mosaicism is gene specific in spinocerebellar at..:

Kacher, Radhia ; Lejeune, François-Xavier ; David, Isabelle...
The American Journal of Human Genetics. 111 (2024) 5 - p. 913-926 , 2024

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

8

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: l..:

Gustavsson, Emil K ; Follett, Jordan ; Trinh, Joanne...
The Lancet Neurology. 23 (2024) 6 - p. 603-614 , 2024

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

9

Differences in Survival across Monogenic Forms of Parkinson..:

Lanore, Aymeric ; Casse, Fanny ; Tesson, Christelle...
Annals of Neurology. 94 (2023) 1 - p. 123-132 , 2023

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

10

Machado-Joseph disease in a Sudanese family links East Afri..:

Martins, Sandra ; Yahia, Ashraf ; Costa, Inês P. D....
Human Genetics. 142 (2023) 12 - p. 1747-1754 , 2023

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

11

Motor neuron involvement threatens survival in spinocerebel..:

Coarelli, Giulia ; Tchikviladzé, Maya ; Dodet, Pauline...
Neuropathology and Applied Neurobiology. 49 (2023) 2 - p. , 2023

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

12

The Whole-Exome Sequencing of a Cohort of 19 Families with ..:

Marie-Hardy, Laura ; Courtin, Thomas ; Pascal-Moussellard, Hugues..
Genes. 14 (2023) 11 - p. 2094 , 2023

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

13

Intermediate repeat expansions of TBP and STUB1: Genetic mo..:

Barbier, Mathieu ; Davoine, Claire-Sophie ; Petit, Emilien...
Genetics in Medicine. 25 (2023) 2 - p. 100327 , 2023

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

14

Identification of a DAGLB Mutation in a Non‐Chinese Patient..:

Tesson, Christelle ; Bouchetara, Mohamed Sofiane ; Ferrien, Mélanie..
Movement Disorders. 38 (2023) 9 - p. 1756-1757 , 2023

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

15

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/..