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FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland

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Avoin saatavuus
DOI
10.1016/j.parkreldis.2025.107943
Kytövuori, Laura; Pellerin, David; Kärppä, Mikko; Sipilä, Jussi O.T.; Dicaire, Marie Josée; Iruzubie...
Parkinsonism and related disorders2025

Age-related penetrance of the C9orf72 repeat expansion

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DOI
10.1038/s41598-017-02364-1
Murphy, Natalie A.; Arthur, Karissa C.; Tienari, Pentti J.; Houlden, Henry; Chio, Adriano; Traynor, ...
Scientific reports2017

A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population

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Avoin saatavuus
DOI
10.3233/JAD-210599
FinnGen; Rostalski, Hannah; Korhonen, Ville; Kuulasmaa, Teemu; Solje, Eino; Kruger, Johanna; Kaivola...
Journal of Alzheimer's disease2021

Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease

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Avoin saatavuus
DOI
10.1016/j.parkreldis.2022.08.034
Korpioja, Anita; Krüger, Johanna; Hurme-Niiranen, Anri; Solje, Eino; Katisko, Kasper; Lipponen, Joon...
Parkinsonism and related disorders2022

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

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Avoin saatavuus
DOI
10.3389/fneur.2020.550140
Rostalski, Hannah; Hietanen, Tomi; Leskelä, Stina; Behánová, Andrea; Abdollahzadeh, Ali; Wittrahm, R...
Frontiers in neurology2020

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

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DOI
10.1093/brain/awad436
Currò Riccardo, Dominik Natalia, Facchini Stefano, Vegezzi Elisa, Sullivan Roisin, Galassi Deforie V...
Brain2024

Complete Chloroplast Genomes of Anthurium huixtlense and Pothos scandens (Pothoideae, Araceae):Unique Inverted Repeat Expansion and Contraction Affect Rate of Evolution

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Avoin saatavuus
DOI
10.1007/s00239-020-09958-w
Abdullah, ; Henriquez, Claudia L.; Mehmood, Furrukh; Carlsen, Monica M.; Islam, Madiha; Waheed, Moha...
Journal of Molecular Evolution2020

Association of biallelic RFC1 expansion with early-onset Parkinson's disease

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Avoin saatavuus
DOI
10.1111/ene.15717
Ylikotila, Pauli; Sipilä, Jussi; Alapirtti, Tiina; Ahmasalo, Riitta; Koshimizu, Eriko; Miyatake, Sat...
European journal of neurology2023

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fnins.2019.00486
Rostalski, Hannah; Leskelä, Stina; Huber, Nadine; Katisko, Kasper; Cajanus, Antti; Solje, Eino; Mart...
Frontiers in neuroscience2019

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Vertaisarvioitu
DOI
10.1016/j.ejmg.2020.104010
Carroll, Renee; Shaw, Marie; Arvio, Maria ; Gardner, Alison ; Kumar, Raman; Hodgson, Bree; Heron, Sa...
European journal of medical genetics2020

FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.parkreldis.2025.107943
2025

Age-related penetrance of the C9orf72 repeat expansion

Vertaisarvioitu
Avoin saatavuus
DOI
10.1038/s41598-017-02364-1
2017

A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population

Vertaisarvioitu
Avoin saatavuus
DOI
10.3233/JAD-210599
2021

Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.parkreldis.2022.08.034
2022

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fneur.2020.550140
2020

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Vertaisarvioitu
Avoin saatavuus
DOI
10.1093/brain/awad436
2024

Complete Chloroplast Genomes of Anthurium huixtlense and Pothos scandens (Pothoideae, Araceae):Unique Inverted Repeat Expansion and Contraction Affect Rate of Evolution

Vertaisarvioitu
Avoin saatavuus
DOI
10.1007/s00239-020-09958-w
2020

Association of biallelic RFC1 expansion with early-onset Parkinson's disease

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/ene.15717
2023

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fnins.2019.00486
2019

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Vertaisarvioitu
DOI
10.1016/j.ejmg.2020.104010
2020