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PubPharm (46)
1
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
in:
Genetics in Medicine Open
| 2024
von
David Cheerie
|
Marlen Lauffer
|
Danique Beijer
| +7
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2
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors
in:
Alzheimer’s Research & Therapy
| 2024
von
Imogen J. Swift
|
Rosa Rademakers
|
NiCole Finch
| +94
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3
Resting-state alterations in behavioral variant frontotemporal dementia are related to the distribution of monoamine and GABA neurotransmitter systems
in:
eLife
| 2024
von
Lisa Hahn
|
Simon B Eickhoff
|
Karsten Mueller
| +13
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4
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
in:
Alzheimer’s Research & Therapy
| 2024
von
Alberto Benussi
|
Enrico Premi
|
Mario Grassi
| +45
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5
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context
in:
EBioMedicine
| 2024
von
David Pellerin
|
Felix Heindl
|
Carlo Wilke
| +14
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6
Altered plasma protein profiles in genetic FTD – a GENFI study
in:
Molecular Neurodegeneration
| 2023
von
Abbe Ullgren
|
Linn Öijerstedt
|
Jennie Olofsson
| +33
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7
Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3
in:
Disease Models & Mechanisms
| 2023
von
David Mengel
|
Isabel G. Wellik
|
Kristen H. Schuster
| +7
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8
The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia
in:
Annals of Clinical and Translational Neurology
| 2022
von
Annabel Nelson
|
Lucy L. Russell
|
Georgia Peakman
| +31
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9
Comparative analysis of machine learning algorithms for multi-syndrome classification of neurodegenerative syndromes
in:
Alzheimer’s Research & Therapy
| 2022
von
Leonie Lampe
|
Sebastian Niehaus
|
Hans-Jürgen Huppertz
| +27
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10
Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs
in:
Annals of Clinical and Translational Neurology
| 2022
von
Adam P. Vogel
|
Lisa H. Graf
|
Michelle Magee
| +3
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Alzheimer’s Research & Therapy
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Orphanet Journal of Rare Diseases
4
Annals of Clinical and Translational Neurology
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NeuroImage: Clinical
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Molecular Therapy: Nucleic Acids
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Neurology. Diseases of the nervous system
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frontotemporal dementia
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4-Aminopyridine
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2010-2019
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