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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
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.
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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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P.
Dodd DO, et al. Among authors: blumlein u.
Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26.
Science. 2024.
PMID: 38662826
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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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