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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26.
Science. 2024.
PMID: 38662826
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P, Škorvánek M, Kittke V, Dzinovic I, Borngräber F, Thomsen M, Mandel V, Svorenova T, Ostrozovicova M, Kulcsarova K, Berutti R, Busch H, Ott F, Kopajtich R, Prokisch H, Kumar KR, Mencacci NE, Kurian MA, Di Fonzo A, Boesch S, Kühn AA, Blümlein U, Lohmann K, Haslinger B, Weise D, Jech R, Winkelmann J, Zech M.
Harrer P, et al. Among authors: blumlein u.
Mov Disord. 2023 Oct;38(10):1914-1924. doi: 10.1002/mds.29562. Epub 2023 Jul 23.
Mov Disord. 2023.
PMID: 37485550
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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.
Ammer LS, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga AK, Pohl S, Muschol NM.
Ammer LS, et al. Among authors: blumlein u.
J Clin Med. 2023 Jun 18;12(12):4114. doi: 10.3390/jcm12124114.
J Clin Med. 2023.
PMID: 37373807
Free PMC article.
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A comparison of pediatric inflammatory multisystem syndrome temporarily-associated with SARS-CoV-2 and Kawasaki disease.
Hufnagel M, Armann J, Jakob A, Doenhardt M, Diffloth N, Hospach A, Schneider DT, Trotter A, Roessler M, Schmitt J, Berner R; PIMS-DGPI Working Group.
Hufnagel M, et al.
Sci Rep. 2023 Jan 20;13(1):1173. doi: 10.1038/s41598-022-26832-5.
Sci Rep. 2023.
PMID: 36670127
Free PMC article.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB.
Paul MS, et al. Among authors: blumlein u.
Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16.
Am J Hum Genet. 2023.
PMID: 36528028
Free PMC article.
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Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Blümlein U, Mengel E, Amraoui Y.
Blümlein U, et al.
Mol Genet Metab Rep. 2022 Jul 19;32:100900. doi: 10.1016/j.ymgmr.2022.100900. eCollection 2022 Sep.
Mol Genet Metab Rep. 2022.
PMID: 36046391
Free PMC article.
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