Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7.
Acta Neuropathol Commun. 2024.
PMID: 38167323
Free PMC article.
No abstract available.
Update on leukodystrophies and developing trials.
Ceravolo G, Zhelcheska K, Squadrito V, Pellerin D, Gitto E, Hartley L, Houlden H.
Ceravolo G, et al. Among authors: zhelcheska k.
J Neurol. 2024 Jan;271(1):593-605. doi: 10.1007/s00415-023-11996-5. Epub 2023 Sep 27.
J Neurol. 2024.
PMID: 37755460
Free PMC article.
Review.
Item in Clipboard
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium.
Morsy H, et al. Among authors: zhelcheska k.
Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4.
Genet Med. 2023.
PMID: 36331550
Free PMC article.
Item in Clipboard
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A.
Thomas Q, et al. Among authors: zhelcheska k.
Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30.
Am J Hum Genet. 2022.
PMID: 36044892
Free PMC article.
Item in Clipboard
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Chelban V, Nikram E, Perez-Soriano A, Wilke C, Foubert-Samier A, Vijiaratnam N, Guo T, Jabbari E, Olufodun S, Gonzalez M, Senkevich K, Laurens B, Péran P, Rascol O, Le Traon AP, Todd EG, Costantini AA, Alikhwan S, Tariq A, Ng BL, Muñoz E, Painous C, Compta Y, Junque C, Segura B, Zhelcheska K, Wellington H, Schöls L, Jaunmuktane Z, Kobylecki C, Church A, Hu MTM, Rowe JB, Leigh PN, Massey L, Burn DJ, Pavese N, Foltynie T, Pchelina S, Wood N, Heslegrave AJ, Zetterberg H, Bocchetta M, Rohrer JD, Marti MJ, Synofzik M, Morris HR, Meissner WG, Houlden H.
Chelban V, et al. Among authors: zhelcheska k.
Brain. 2022 Dec 19;145(12):4398-4408. doi: 10.1093/brain/awac253.
Brain. 2022.
PMID: 35903017
Free PMC article.
Item in Clipboard
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations.
de Boni L, Watson AH, Zaccagnini L, Wallis A, Zhelcheska K, Kim N, Sanderson J, Jiang H, Martin E, Cantlon A, Rovere M, Liu L, Sylvester M, Lashley T, Dettmer U, Jaunmuktane Z, Bartels T.
de Boni L, et al. Among authors: zhelcheska k.
Acta Neuropathol. 2022 Apr;143(4):453-469. doi: 10.1007/s00401-022-02406-7. Epub 2022 Feb 9.
Acta Neuropathol. 2022.
PMID: 35141810
Free PMC article.
Item in Clipboard
Cite
Cite