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Page 1
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: hennings jc. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Effect of methanol fixation on single-cell RNA sequencing of the murine dentate gyrus.
Sánchez-Carbonell M, Jiménez Peinado P, Bayer-Kaufmann C, Hennings JC, Hofmann Y, Schmidt S, Witte OW, Urbach A. Sánchez-Carbonell M, et al. Among authors: hennings jc. Front Mol Neurosci. 2023 Oct 4;16:1223798. doi: 10.3389/fnmol.2023.1223798. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37860083 Free PMC article.
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA. Franzka P, et al. Among authors: hennings jc. J Clin Invest. 2021 May 3;131(9):e139076. doi: 10.1172/JCI139076. J Clin Invest. 2021. PMID: 33755596 Free PMC article.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Husain RA, et al. Among authors: hennings jc. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release.
Bocker HT, Heinrich T, Liebmann L, Hennings JC, Seemann E, Gerth M, Jakovčevski I, Preobraschenski J, Kessels MM, Westermann M, Isbrandt D, Jahn R, Qualmann B, Hübner CA. Bocker HT, et al. Among authors: hennings jc. Cereb Cortex. 2019 Sep 13;29(10):4263-4276. doi: 10.1093/cercor/bhy308. Cereb Cortex. 2019. PMID: 30541023
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Mumtaz R, et al. Among authors: hennings jc. J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8. J Am Soc Nephrol. 2017. PMID: 27932475 Free PMC article.
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.
Hennings JC, Andrini O, Picard N, Paulais M, Huebner AK, Cayuqueo IK, Bignon Y, Keck M, Cornière N, Böhm D, Jentsch TJ, Chambrey R, Teulon J, Hübner CA, Eladari D. Hennings JC, et al. J Am Soc Nephrol. 2017 Jan;28(1):209-217. doi: 10.1681/ASN.2016010085. Epub 2016 Jun 22. J Am Soc Nephrol. 2017. PMID: 27335120 Free PMC article.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings JC, Franzka P, Huebner AK, Kessels MM, Biskup C, Jentsch TJ, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner CA. Varga RE, et al. Among authors: hennings jc. PLoS Genet. 2015 Aug 18;11(8):e1005454. doi: 10.1371/journal.pgen.1005454. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26284655 Free PMC article.
23 results