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PubPharm (39)
1
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Vishnu, V.
|
Lemmers, R.
|
Reyaz, A.
| +15
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2
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
enthalten in:
bioRxiv.org
| 2024
von
Currò, R.
|
Dominik, N.
|
Facchini, S.
| +51
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3
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Husain, R.
|
Jiao, X.
|
Hennings, J.
| +37
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4
Tissue-Specific Dynamics of
TCF4
Triplet Repeat Instability Revealed by Optical Genome Mapping
enthalten in:
bioRxiv.org
| 2024
von
Zarouchlioti, C.
|
Efthymiou, S.
|
Fracchini, S.
| +18
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5
Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Hadjivassiliou, M.
|
Currò, R.
|
Beauchamp, N.
| +6
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6
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Currò, R.
|
Dominik, N.
|
Facchini, S.
| +152
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7
Letter to the editor on : Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
enthalten in:
Acta neuropathologica communications
| 2024
von
Luo, H.
|
Gustavsson, E.
|
Macpherson, H.
| +29
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8
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
enthalten in:
Acta Neuropathologica Communications
| 2024
von
Luo, H.
|
Gustavsson, E.
|
Macpherson, H.
| +29
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9
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Quartesan, I.
|
Vegezzi, E.
|
Currò, R.
| +30
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10
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
enthalten in:
Movement Disorders
| 2024
von
Quartesan, I.
|
Vegezzi, E.
|
Currò, R.
| +30
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Medienart
39
Aufsätze
37
E-Artikel
37
E-Ressourcen
2
Gedruckte Aufsätze
Zeitschriftentitel
8
Brain : a journal of neurology
4
Der Nervenarzt
4
Journal of neurology
3
Neurology
3
bioRxiv.org
2
Biomolecules
2
Genetics in medicine : official journal of the ...
2
Journal of neurology, neurosurgery, and psychiatry
1
Acta Neuropathologica Communications
1
Acta neuropathologica communications
1
European journal of human genetics : EJHG
1
Genes & diseases
1
Journal of the neurological sciences
1
Movement Disorders
1
Movement Disorders Clinical Practice
1
Movement disorders : official journal of the Mo...
1
Movement disorders clinical practice
1
Nature communications
1
Neurology. Genetics
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Thema
23
Journal Article
13
Research Support, Non-U.S. Gov't
12
CANVAS
9
RFC1
5
RFC1 protein, human
4
Ataxia
4
EC 3.6.4.-
4
Late onset
4
Late-onset ataxia
4
Polyneuropathy
4
Repeat expansion
4
Repeat expansion disease
4
Replication Protein C
4
Research Support, N.I.H., Extramural
4
Southern blot
4
Vestibulopathy
3
570
3
Biology
3
Letter
3
ataxia
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Erscheinungszeitraum
10
2024
9
2023
10
2021
10
2020
Erscheinungsjahr(e)
Von:
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Sprache
33
Englisch
4
Deutsch
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