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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. Among authors: chelban v. 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.
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G. Bettencourt C, et al. Among authors: chelban v. Orphanet J Rare Dis. 2017 Nov 2;12(1):172. doi: 10.1186/s13023-017-0721-2. Orphanet J Rare Dis. 2017. PMID: 29096665 Free PMC article.
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, Alexoudi A, Gatzonis S, Stefanis L, Karadima G, Wood NW, Chávez-Gutiérrez L, Hardy J, Houlden H, Koutsis G. Chelban V, et al. Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 33969176 Free PMC article.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Duga S, Murray M, Carmona S; Genomics England Research Consortium; Chelban V, Ishiura H, Tsuji S, Jaunmuktane Z, Turner C, Wood NW, Houlden H. Yau WY, et al. Among authors: chelban v. Mov Disord. 2021 Jan;36(1):251-255. doi: 10.1002/mds.28302. Epub 2020 Oct 7. Mov Disord. 2021. PMID: 33026126 Free PMC article.
68 results