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2008 1
2013 3
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33 results

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Page 1
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: gburek augustat j. 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.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Among authors: gburek augustat j. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M. Traschütz A, et al. Among authors: gburek augustat j. Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7. Mov Disord. 2023. PMID: 37027459 No abstract available.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Cediel ML, Stawarski M, Blanc X, Nosková L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE. Cediel ML, et al. Among authors: gburek augustat j. Am J Hum Genet. 2022 Oct 6;109(10):1885-1893. doi: 10.1016/j.ajhg.2022.08.010. Epub 2022 Sep 13. Am J Hum Genet. 2022. PMID: 36103875 Free PMC article.
Cerebrospinal Fluid Protein Concentrations in Hydrocephalus.
Wilhelmy F, Krause M, Schob S, Merkenschlager A, Wachowiak R, Härtig W, Meixensberger J, Gburek-Augustat J, Wende T. Wilhelmy F, et al. Among authors: gburek augustat j. Children (Basel). 2023 Mar 30;10(4):644. doi: 10.3390/children10040644. Children (Basel). 2023. PMID: 37189895 Free PMC article.
[Unusual Localisation of a Borrelia Lymphocytoma].
Liebmann N, Sterker I, Sorge I, Opitz S, Merkenschlager A, Gburek-Augustat J. Liebmann N, et al. Among authors: gburek augustat j. Klin Monbl Augenheilkd. 2021 Dec 15. doi: 10.1055/a-1686-9274. Online ahead of print. Klin Monbl Augenheilkd. 2021. PMID: 34911119 German. No abstract available.
[Lysosomal storage diseases].
Schulze M, Groeschel S, Gburek-Augustat J, Nägele T, Horger M. Schulze M, et al. Among authors: gburek augustat j. Rofo. 2015 Dec;187(12):1057-60. doi: 10.1055/s-0035-1552368. Epub 2015 Nov 26. Rofo. 2015. PMID: 26609772 German. No abstract available.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: gburek augustat j. Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12. Ann Neurol. 2023. PMID: 37243847
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: gburek augustat j. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
33 results