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A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, S… See abstract for full author list ➔ van der Zee J, et al. Among authors: jordanova a. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
Mind-body control: a new perspective on motor neuron function.
Petrovic-Erfurth ML, Jordanova A. Petrovic-Erfurth ML, et al. Among authors: jordanova a. Signal Transduct Target Ther. 2024 Aug 30;9(1):220. doi: 10.1038/s41392-024-01922-0. Signal Transduct Target Ther. 2024. PMID: 39209819 Free PMC article. No abstract available.
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.
Calianese DC, Noji T, Sullivan JA, Schoch K, Shashi V, McNiven V, Ramos LLP, Jordanova A, Kárteszi J, Ishikita H, Nagata S. Calianese DC, et al. Among authors: jordanova a. Proc Natl Acad Sci U S A. 2024 Oct 29;121(44):e2415755121. doi: 10.1073/pnas.2415755121. Epub 2024 Oct 21. Proc Natl Acad Sci U S A. 2024. PMID: 39432785 Free PMC article.
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: jordanova a. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Atkinson D, Chamova T, Candayan A, Kastreva K, Asenov O, Litvinenko I, Estrada-Cuzcano A, De Vriendt E, Kukushev G, Tournev I, Jordanova A. Atkinson D, et al. Among authors: jordanova a. Int J Mol Sci. 2024 Aug 21;25(16):9047. doi: 10.3390/ijms25169047. Int J Mol Sci. 2024. PMID: 39201732 Free PMC article.
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Chamova T, Ivanova N, Cherninkova S, Koleva M, Zlatareva D, Bojinova V, Mihova K, Georgiev M, Ferdinandov D, Bichev S, Kaneva R, Mitev V, Jordanova A, Tournev I. Chamova T, et al. Among authors: jordanova a. Mol Genet Genomic Med. 2024 Jul;12(7):e2483. doi: 10.1002/mgg3.2483. Mol Genet Genomic Med. 2024. PMID: 39044368 Free PMC article.
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, Lunn MP, Reilly MM, Rasic VM, Jordanova A. Armirola-Ricaurte C, et al. Among authors: jordanova a. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309787. doi: 10.1101/2024.07.03.24309787. medRxiv. 2024. PMID: 39006432 Free PMC article. Preprint.
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: jordanova a. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117. Epub 2024 Mar 6. Genet Med. 2024. PMID: 38459834 Free PMC article.
146 results