Suchergebnisse - "Wilke, Carlo"

PubPharm (127)

1

IntronicFGF14GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

enthalten in: bioRxiv.org | 2024

von Pellerin, D. | Heindl, F. | Wilke, C. | +14

2

GAA-FGF14 disease : defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

enthalten in: EBioMedicine | 2024

von Pellerin, D. | Heindl, F. | Wilke, C. | +14

UpdateOf: medRxiv. 2023 Aug 05;:. - PMID 37577458

3

Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

enthalten in: Alzheimer's & dementia (Amsterdam, Netherlands) | 2024

von Samra, K. | Peakman, G. | MacDougall, A. | +132

4

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors

enthalten in: Alzheimer's research & therapy | 2024

von Swift, I. | Rademakers, R. | Finch, N. | +94

5

A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

enthalten in: Alzheimer's research & therapy | 2024

von Swift, I. | Rademakers, R. | Finch, N. | +94

6

Standards of NGS Data Sharing and Analysis in Ataxias : Recommendations by the NGS Working Group of the Ataxia Global Initiative

enthalten in: Cerebellum (London, England) | 2024

von Beijer, D. | Fogel, B. | Beltran, S. | +35

7

Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia

enthalten in: Brain imaging and behavior | 2024

von Upadhyay, N. | Spottke, A. | Schneider, A. | +25

8

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

enthalten in: Annals of neurology | 2024

von Faber, J. | Berger, M. | Wilke, C. | +36

UpdateOf: medRxiv. 2023 Apr 25;:. - PMID 37163081

9

Stage-dependent biomarker changes in spinocerebellar ataxia type 3

enthalten in: Annals of neurology | February 2024

von Faber, J. | Berger, M. | Wilke, C. | +36

10

NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD : a large GENFI study

enthalten in: Journal of neurology, neurosurgery, and psychiatry | 2024

von Linnemann, C. | Wilke, C. | Mengel, D. | +135

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