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Page 1
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Said SA, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Martinez VG, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, LeGuern E, Koutsis G, Houlden H, Stevanin G. Breza M, et al. Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5. Mov Disord. 2021. PMID: 33543803 No abstract available.
Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene.
Bougea A, Koros C, Stamelou M, Simitsi A, Papagiannakis N, Antonelou R, Papadimitriou D, Breza M, Tasios K, Fragkiadaki S, Geronicola Trapali X, Bourbouli M, Koutsis G, Papageorgiou SG, Kapaki E, Paraskevas GP, Stefanis L. Bougea A, et al. Among authors: breza m. Parkinsonism Relat Disord. 2017 Feb;35:82-87. doi: 10.1016/j.parkreldis.2016.12.002. Epub 2016 Dec 6. Parkinsonism Relat Disord. 2017. PMID: 28012952
Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.
Koutsis G, Breza M, Evangelopoulos ME, Anagnostouli M, Andreadou E, Karagiorgis G, Kokotis P, Kilidireas C, Karandreas N. Koutsis G, et al. Among authors: breza m. Mult Scler Relat Disord. 2017 Apr;13:112-115. doi: 10.1016/j.msard.2017.02.017. Epub 2017 Feb 24. Mult Scler Relat Disord. 2017. PMID: 28427691
Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.
Kartanou C, Karadima G, Koutsis G, Breza M, Papageorgiou SG, Paraskevas GP, Kapaki E, Panas M. Kartanou C, et al. Among authors: breza m. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):152-154. doi: 10.1080/21678421.2017.1400070. Epub 2017 Nov 23. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29166782
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, Karavasilis E, Tzanetakos D, Anagnostouli M, Andreadou E, Evangelopoulos ME, Kilidireas C, Potagas C, Panas M, Karadima G. Koutsis G, et al. Among authors: breza m. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):187-194. doi: 10.1136/jnnp-2018-319014. Epub 2018 Sep 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30196252
Complex phenotype in a C9ORF72-positive patient with high-titer anti-glutamic acid decarboxylase antibodies: neuroimmunology meets neurogenetics.
Varvaressos S, Breza M, Marousi S, Printzou M, Georgoulis A, Papageorgiou E, Kartanou C, Karadima G, Tagaris G, Koutsis G, Tzartos JS. Varvaressos S, et al. Among authors: breza m. Eur J Neurol. 2019 Jul;26(7):e73-e74. doi: 10.1111/ene.13926. Epub 2019 May 6. Eur J Neurol. 2019. PMID: 31059159 No abstract available.
MOG antibody-associated demyelinating disease mimicking typical multiple sclerosis: A case for expanding anti-MOG testing?
Breza M, Koutsis G, Tzartos JS, Velonakis G, Evangelopoulos ME, Tzanetakos D, Karagiorgou K, Angelopoulou G, Kasselimis D, Potagas C, Anagnostouli M, Stefanis L, Kilidireas C. Breza M, et al. Mult Scler Relat Disord. 2019 Aug;33:67-69. doi: 10.1016/j.msard.2019.05.021. Epub 2019 May 28. Mult Scler Relat Disord. 2019. PMID: 31158804
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Response to correspondence: Testing for myelin oligodendrocyte glycoprotein antibody (MOG-IgG) in typical MS.
Breza M, Koutsis G, Tzartos JS, Velonakis G, Evangelopoulos ME, Tzanetakos D, Karagiorgou K, Angelopoulou G, Kasselimis D, Potagas C, Anagnostouli M, Stefanis L, Kilidireas C. Breza M, et al. Mult Scler Relat Disord. 2019 Oct;35:156-157. doi: 10.1016/j.msard.2019.07.018. Epub 2019 Jul 24. Mult Scler Relat Disord. 2019. PMID: 31376687 No abstract available.
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
Kasselimis D, Karadima G, Angelopoulou G, Breza M, Tsolakopoulos D, Potagas C, Panas M, Koutsis G. Kasselimis D, et al. Among authors: breza m. J Int Neuropsychol Soc. 2020 Mar;26(3):294-302. doi: 10.1017/S1355617719001188. Epub 2020 Jan 17. J Int Neuropsychol Soc. 2020. PMID: 31948496
84 results