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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: muller u. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Lee HY, et al. Among authors: muller u. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.
Afadin is a scaffold protein repressing insulin action via HDAC6 in adipose tissue.
Lundh M, Petersen PS, Isidor MS, Kazoka-Sørensen DN, Plucińska K, Shamsi F, Ørskov C, Tozzi M, Brown EL, Andersen E, Ma T, Müller U, Barrès R, Kristiansen VB, Gerhart-Hines Z, Tseng YH, Emanuelli B. Lundh M, et al. Among authors: muller u. EMBO Rep. 2019 Aug;20(8):e48216. doi: 10.15252/embr.201948216. Epub 2019 Jul 2. EMBO Rep. 2019. PMID: 31264358 Free PMC article.
Integrative metabolomics-genomics analysis identifies key networks in a stem cell-based model of schizophrenia.
Spathopoulou A, Sauerwein GA, Marteau V, Podlesnic M, Lindlbauer T, Kipura T, Hotze M, Gabassi E, Kruszewski K, Koskuvi M, Réthelyi JM, Apáti Á, Conti L, Ku M, Koal T, Müller U, Talmazan RA, Ojansuu I, Vaurio O, Lähteenvuo M, Lehtonen Š, Mertens J, Kwiatkowski M, Günther K, Tiihonen J, Koistinaho J, Trajanoski Z, Edenhofer F. Spathopoulou A, et al. Among authors: muller u. Mol Psychiatry. 2024 Apr 29. doi: 10.1038/s41380-024-02568-8. Online ahead of print. Mol Psychiatry. 2024. PMID: 38684795
[Sudden hoarseness! The unusual case of a thyroid gland tumor].
Abazid A, Goller J, Stope MB, Huschitt N, Müller U. Abazid A, et al. Among authors: muller u. Chirurgie (Heidelb). 2024 Apr 10. doi: 10.1007/s00104-024-02075-0. Online ahead of print. Chirurgie (Heidelb). 2024. PMID: 38600371 German. No abstract available.
Correction: Definition, Classification, Diagnosis and Differential Diagnosis of Diabetes Mellitus: Update 2023.
Pleus S, Tytko A, Landgraf R, Heinemann L, Werner C, Müller-Wieland D, Ziegler AG, Müller UA, Freckmann G, Kleinwechter H, Schleicher E, Nauck M, Petersmann A. Pleus S, et al. Among authors: muller ua. Exp Clin Endocrinol Diabetes. 2024 Mar;132(3):e1. doi: 10.1055/a-2277-1648. Epub 2024 Mar 14. Exp Clin Endocrinol Diabetes. 2024. PMID: 38484786 No abstract available.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: muller u. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
2,047 results