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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 1
2004 6
2005 4
2006 8
2007 5
2008 3
2009 9
2010 1
2011 8
2012 6
2013 11
2014 9
2015 9
2016 8
2017 15
2018 5
2019 9
2020 18
2021 12
2022 11
2023 11
2024 6

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159 results

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Page 1
Knockdown of INPP5K compromises the differentiation of N2A cells.
Manzolillo A, Gresing L, Hübner CA, Franzka P. Manzolillo A, et al. Among authors: hubner ca. Front Mol Neurosci. 2024 Mar 15;17:1356343. doi: 10.3389/fnmol.2024.1356343. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38559586 Free PMC article.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: hubner ca. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Consequences of GMPPB deficiency for neuromuscular development and maintenance.
Schurig MK, Umeh O, Henze H, Jung MJ, Gresing L, Blanchard V, von Maltzahn J, Hübner CA, Franzka P. Schurig MK, et al. Among authors: hubner ca. Front Mol Neurosci. 2024 Feb 14;17:1356326. doi: 10.3389/fnmol.2024.1356326. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38419795 Free PMC article.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Among authors: hubner ca. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: hubner ca. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: hubner ca. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: hubner ca. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: hubner ca. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum.
González A, Covarrubias-Pinto A, Bhaskara RM, Glogger M, Kuncha SK, Xavier A, Seemann E, Misra M, Hoffmann ME, Bräuning B, Balakrishnan A, Qualmann B, Dötsch V, Schulman BA, Kessels MM, Hübner CA, Heilemann M, Hummer G, Dikić I. González A, et al. Among authors: hubner ca. Nature. 2023 Jun;618(7964):394-401. doi: 10.1038/s41586-023-06089-2. Epub 2023 May 24. Nature. 2023. PMID: 37225996 Free PMC article.
159 results