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

Year Number of Results
1992 1
2005 1
2007 3
2009 2
2012 1
2013 5
2014 1
2015 2
2016 2
2017 2
2019 1
2020 1
2021 1
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21 results
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Page 1
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
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.
Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension.
Jacques T, Picard N, Miller RL, Riemondy KA, Houillier P, Sohet F, Ramakrishnan SK, Büsst CJ, Jayat M, Cornière N, Hassan H, Aronson PS, Hennings JC, Hübner CA, Nelson RD, Chambrey R, Eladari D. Jacques T, et al. Among authors: hennings jc. J Am Soc Nephrol. 2013 Jun;24(7):1104-13. doi: 10.1681/ASN.2012080787. Epub 2013 Jun 13. J Am Soc Nephrol. 2013. PMID: 23766534 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.
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.
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. Leipold E, et al. Among authors: hennings jc. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036948
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: hennings jc. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
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