Novel mutation for SCA40 with initial presentation as retinitis pigmentosa

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Published inActa neurologica Belgica Vol. 123; no. 5; pp. 2027 - 2029
Main Authors Perković, Romana, Hrvoić, Lovro, Mandić, Ivan, Koruga, Anamarija Soldo, Soldo, Silva Butković
Format Journal Article
LanguageEnglish
Published Cham Springer International Publishing 01.10.2023
Subjects
Biomedical and Life Sciences
Biomedicine
Letter to the Editor
Medicine/Public Health
Neurology
Neuroradiology
Neurosciences
SCA40
Retinitis pigmentosa
Spinocerebellar ataxia
CCDC88C
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Author Koruga, Anamarija Soldo
Soldo, Silva Butković
Mandić, Ivan
Hrvoić, Lovro
Perković, Romana
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  organization: Department of Neurology, University Hospital Center Osijek
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Cites_doi 10.1515/tnsci-2020-0190.Erratum.In:TranslNeurosci.2022Apr01;13(1):70
10.1136/jmedgenet-2014-102333
10.1080/15216540500137586
10.1002/mds.27536
10.1111/j.1365-2443.2003.00692.x
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Issue 5
Keywords SCA40
Retinitis pigmentosa
Spinocerebellar ataxia
CCDC88C
Language English
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PublicationTitle Acta neurologica Belgica
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Oshita, Kishida, Kobayashi, Michiue, Asahara, Asashima, Kikuchi (CR4) 2003; 8
Han, Su, Qu (CR1) 2021; 12
Tsoi, Yu, Chen, Ng, Chan, Yuen, Abrigo, Tsang, Tsui, Tong, Lo, Lam, Mok, Wong, Ngo, Lau, Chan, Chan (CR2) 2014; 51
F Han (2094_CR1) 2021; 12
A Oshita (2094_CR4) 2003; 8
M Leńska-Mieciek (2094_CR3) 2019; 34
H Tsoi (2094_CR2) 2014; 51
AS Hackam (2094_CR5) 2005; 57
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StartPage 2027
SubjectTerms Biomedical and Life Sciences
Biomedicine
Letter to the Editor
Medicine/Public Health
Neurology
Neuroradiology
Neurosciences
Title Novel mutation for SCA40 with initial presentation as retinitis pigmentosa
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