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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 3
2007 3
2008 5
2009 3
2010 1
2011 2
2012 5
2013 6
2014 10
2015 11
2016 6
2017 4
2018 6
2019 8
2020 9
2021 14
2022 10
2023 6
2024 2

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92 results

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Page 1
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: koutsis g. Genet Med. 2024 Mar 6;26(6):101117. doi: 10.1016/j.gim.2024.101117. Online ahead of print. Genet Med. 2024. PMID: 38459834 Free article.
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ, Danzi MC, Koniari C, Athanassopoulos K, Panas M, Stefanis L, Zuchner S, Brais B, Houlden H, Karadima G, Koutsis G. Kartanou C, et al. Among authors: koutsis g. Clin Genet. 2024 Apr;105(4):446-452. doi: 10.1111/cge.14482. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221848
Transthyretin Amyloidosis Cardiomyopathy in Greece: Clinical Insights from the National Referral Center.
Bampatsias D, Theodorakakou F, Briasoulis A, Georgiopoulos G, Dimoula A, Papantoniou V, Papantoniou I, Skiadaresi C, Valsamaki P, Repasos E, Petropoulos I, Delialis D, Papathoma A, Koutsis G, Tselegkidi ME, Stamatelopoulos K, Kastritis E. Bampatsias D, et al. Among authors: koutsis g. Hellenic J Cardiol. 2023 Oct 5:S1109-9666(23)00190-2. doi: 10.1016/j.hjc.2023.09.019. Online ahead of print. Hellenic J Cardiol. 2023. PMID: 37805173 Free article.
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.
Kontogeorgiou Z, Kartanou C, Rentzos M, Kokotis P, Anagnostou E, Zambelis T, Chroni E, Dinopoulos A, Panas M, Koutsis G, Karadima G. Kontogeorgiou Z, et al. Among authors: koutsis g. J Peripher Nerv Syst. 2023 Dec;28(4):642-650. doi: 10.1111/jns.12598. Epub 2023 Oct 5. J Peripher Nerv Syst. 2023. PMID: 37747677
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Porcu L, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 Free PMC article.
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Efthymiou S, Novis LE, Koutsis G, Koniari C, Maroofian R, Turchetti V, Velonakis G, Vasconcellos LF, Raskin S, Srinivasan VM, Pagnamenta AT, Arun YB, Kinhal UV, Gowda VK, Teive HAG, Houlden H. Efthymiou S, et al. Among authors: koutsis g. Ann Clin Transl Neurol. 2023 Oct;10(10):1910-1916. doi: 10.1002/acn3.51874. Epub 2023 Aug 8. Ann Clin Transl Neurol. 2023. PMID: 37553803 Free PMC article.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, Chroni E, Tsivgoulis G, Kimiskidis V, Arnaoutoglou M, Stefanis L, Panas M, Koutsis G, Karadima G, Traeger-Synodinos J. Papadimas GK, et al. Among authors: koutsis g. Int J Mol Sci. 2022 Dec 7;23(24):15507. doi: 10.3390/ijms232415507. Int J Mol Sci. 2022. PMID: 36555146 Free PMC article.
Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.
Kartanou C, Seferiadi M, Pomoni S, Potagas C, Sofocleous C, Traeger-Synodinos J, Stefanis L, Panas M, Koutsis G, Karadima G. Kartanou C, et al. Among authors: koutsis g. Parkinsonism Relat Disord. 2023 Feb;107:105253. doi: 10.1016/j.parkreldis.2022.105253. Epub 2022 Dec 20. Parkinsonism Relat Disord. 2023. PMID: 36549234
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G. Kartanou C, et al. Among authors: koutsis g. J Neurol Sci. 2022 Nov 15;442:120450. doi: 10.1016/j.jns.2022.120450. Epub 2022 Oct 5. J Neurol Sci. 2022. PMID: 36252286
92 results