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

Year Number of Results
1994 2
1997 1
2000 3
2001 3
2002 5
2003 2
2004 2
2005 6
2006 3
2007 3
2008 6
2009 2
2010 4
2011 2
2012 6
2013 6
2014 9
2015 10
2016 2
2017 5
2018 2
2019 7
2020 8
2021 4
2022 2
2023 3
2024 1

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90 results

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Page 1
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: huppke p. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Treatment of MOG antibody associated disorders: results of an international survey.
Whittam DH, Karthikeayan V, Gibbons E, Kneen R, Chandratre S, Ciccarelli O, Hacohen Y, de Seze J, Deiva K, Hintzen RQ, Wildemann B, Jarius S, Kleiter I, Rostasy K, Huppke P, Hemmer B, Paul F, Aktas O, Pröbstel AK, Arrambide G, Tintore M, Amato MP, Nosadini M, Mancardi MM, Capobianco M, Illes Z, Siva A, Altintas A, Akman-Demir G, Pandit L, Apiwattankul M, Hor JY, Viswanathan S, Qiu W, Kim HJ, Nakashima I, Fujihara K, Ramanathan S, Dale RC, Boggild M, Broadley S, Lana-Peixoto MA, Sato DK, Tenembaum S, Cabre P, Wingerchuk DM, Weinshenker BG, Greenberg B, Matiello M, Klawiter EC, Bennett JL, Wallach AI, Kister I, Banwell BL, Traboulsee A, Pohl D, Palace J, Leite MI, Levy M, Marignier R, Solomon T, Lim M, Huda S, Jacob A. Whittam DH, et al. Among authors: huppke p. J Neurol. 2020 Dec;267(12):3565-3577. doi: 10.1007/s00415-020-10026-y. Epub 2020 Jul 4. J Neurol. 2020. PMID: 32623595 Free PMC article.
MOG Antibodies in Pediatric Neurology.
Huppke P. Huppke P. Neuropediatrics. 2018 Feb;49(1):1-2. doi: 10.1055/s-0037-1606545. Epub 2017 Sep 15. Neuropediatrics. 2018. PMID: 28915516 No abstract available.
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Among authors: huppke p. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
Molecular diagnosis of Rett syndrome.
Huppke P, Gärtner J. Huppke P, et al. J Child Neurol. 2005 Sep;20(9):732-6. doi: 10.1177/08830738050200090601. J Child Neurol. 2005. PMID: 16225827 Review.
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: huppke p. Brain. 2023 Dec 23:awad434. doi: 10.1093/brain/awad434. Online ahead of print. Brain. 2023. PMID: 38141063
Tectonic gene mutations in patients with Joubert syndrome.
Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C. Huppke P, et al. Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118024 Free PMC article. Review.
90 results