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Year Number of Results
2015 2
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Page 1
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort.
Mathioudakis L, Dimovasili C, Bourbouli M, Latsoudis H, Kokosali E, Gouna G, Vogiatzi E, Basta M, Kapetanaki S, Panagiotakis S, Kanterakis A, Boumpas D, Lionis C, Plaitakis A, Simos P, Vgontzas A, Kafetzopoulos D, Zaganas I. Mathioudakis L, et al. Among authors: bourbouli m. Neurobiol Aging. 2023 Mar;123:111-128. doi: 10.1016/j.neurobiolaging.2022.07.002. Epub 2022 Jul 11. Neurobiol Aging. 2023. PMID: 36117051
The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.
Papadimas GK, Paraskevas GP, Zambelis T, Karagiaouris C, Bourbouli M, Bougea A, Walter MC, Schumacher NU, Krause S, Kapaki E. Papadimas GK, et al. Among authors: bourbouli m. Acta Myol. 2017 Dec 1;36(4):203-206. eCollection 2017 Dec. Acta Myol. 2017. PMID: 29770363 Free PMC article.
Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.
Bourbouli M, Paraskevas GP, Rentzos M, Mathioudakis L, Zouvelou V, Bougea A, Tychalas A, Kimiskidis VK, Constantinides V, Zafeiris S, Tzagournissakis M, Papadimas G, Karadima G, Koutsis G, Kroupis C, Kartanou C, Kapaki E, Zaganas I. Bourbouli M, et al. Brain Sci. 2021 Sep 19;11(9):1239. doi: 10.3390/brainsci11091239. Brain Sci. 2021. PMID: 34573259 Free PMC article.
19 results