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Items: 1 to 20 of 51

1.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS.

Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec.

2.

The complement C5 inhibitor crovalimab in paroxysmal nocturnal hemoglobinuria.

Röth A, Nishimura JI, Nagy Z, Gaàl-Weisinger J, Panse J, Yoon SS, Egyed M, Ichikawa S, Ito Y, Kim JS, Ninomiya H, Schrezenmeier H, Sica S, Usuki K, Sicre de Fontbrune F, Soret J, Sostelly A, Higginson J, Dieckmann A, Gentile B, Anzures-Cabrera J, Shinomiya K, Jordan G, Biedzka-Sarek M, Klughammer B, Jahreis A, Bucher C, Peffault de Latour R.

Blood. 2020 Mar 19;135(12):912-920. doi: 10.1182/blood.2019003399.

3.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB.

J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016.

PMID:
31761138
4.

Investigating appraisal-driven facial expression and inference in emotion communication.

Scherer KR, Dieckmann A, Unfried M, Ellgring H, Mortillaro M.

Emotion. 2019 Nov 4. doi: 10.1037/emo0000693. [Epub ahead of print]

PMID:
31682143
5.

Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults.

Wenz H, Dieckmann A, Lehmann T, Brandl U, Mentzel HJ.

Rofo. 2019 Dec;191(12):1091-1098. doi: 10.1055/a-0889-8605. Epub 2019 Apr 29. English, German.

6.

Dynamic Facial Expression of Emotion and Observer Inference.

Scherer KR, Ellgring H, Dieckmann A, Unfried M, Mortillaro M.

Front Psychol. 2019 Mar 19;10:508. doi: 10.3389/fpsyg.2019.00508. eCollection 2019.

7.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM; Childhood Overgrowth Collaboration, Tatton-Brown K.

Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.

PMID:
30793471
8.

Identifying and avoiding off-target effects of RNase H-dependent antisense oligonucleotides in mice.

Hagedorn PH, Pontoppidan M, Bisgaard TS, Berrera M, Dieckmann A, Ebeling M, Møller MR, Hudlebusch H, Jensen ML, Hansen HF, Koch T, Lindow M.

Nucleic Acids Res. 2018 Jun 20;46(11):5366-5380. doi: 10.1093/nar/gky397.

9.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S.

Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30.

PMID:
29665094
10.

A Sensitive In Vitro Approach to Assess the Hybridization-Dependent Toxic Potential of High Affinity Gapmer Oligonucleotides.

Dieckmann A, Hagedorn PH, Burki Y, Brügmann C, Berrera M, Ebeling M, Singer T, Schuler F.

Mol Ther Nucleic Acids. 2018 Mar 2;10:45-54. doi: 10.1016/j.omtn.2017.11.004. Epub 2017 Nov 14.

11.

Assessing single-stranded oligonucleotide drug-induced effects in vitro reveals key risk factors for thrombocytopenia.

Sewing S, Roth AB, Winter M, Dieckmann A, Bertinetti-Lapatki C, Tessier Y, McGinnis C, Huber S, Koller E, Ploix C, Reed JC, Singer T, Rothfuss A.

PLoS One. 2017 Nov 6;12(11):e0187574. doi: 10.1371/journal.pone.0187574. eCollection 2017.

12.

Role of the ESCRT Complexes in Telomere Biology.

Dieckmann AK, Babin V, Harari Y, Eils R, König R, Luke B, Kupiec M.

mBio. 2016 Nov 8;7(6). pii: e01793-16. doi: 10.1128/mBio.01793-16.

13.

Brain morphometry in Pontocerebellar Hypoplasia type 2.

Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I.

Orphanet J Rare Dis. 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4.

14.

Mixed Integer Linear Programming based machine learning approach identifies regulators of telomerase in yeast.

Poos AM, Maicher A, Dieckmann AK, Oswald M, Eils R, Kupiec M, Luke B, König R.

Nucleic Acids Res. 2016 Jun 2;44(10):e93. doi: 10.1093/nar/gkw111. Epub 2016 Feb 22.

15.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration, Rahman N.

Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Erratum in: Hum Mol Genet. 2019 May 1;28(9):1578.

16.

Redox-neutral α-oxygenation of amines: reaction development and elucidation of the mechanism.

Richers MT, Breugst M, Platonova AY, Ullrich A, Dieckmann A, Houk KN, Seidel D.

J Am Chem Soc. 2014 Apr 23;136(16):6123-35. doi: 10.1021/ja501988b. Epub 2014 Apr 14.

17.

Metal-free α-amination of secondary amines: computational and experimental evidence for azaquinone methide and azomethine ylide intermediates.

Dieckmann A, Richers MT, Platonova AY, Zhang C, Seidel D, Houk KN.

J Org Chem. 2013 Apr 19;78(8):4132-44. doi: 10.1021/jo400483h. Epub 2013 Apr 2.

18.

Zwitterions and unobserved intermediates in organocatalytic Diels-Alder reactions of linear and cross-conjugated trienamines.

Dieckmann A, Breugst M, Houk KN.

J Am Chem Soc. 2013 Feb 27;135(8):3237-42. doi: 10.1021/ja312043g. Epub 2013 Feb 11.

PMID:
23350816
19.

Elucidation of Strong Cooperative Effects Caused by Dispersion Interactions in a Recognition-Mediated Diels-Alder Reaction.

Dieckmann A, Houk KN.

J Chem Theory Comput. 2012 Dec 11;8(12):5064-71. doi: 10.1021/ct300655b. Epub 2012 Sep 25.

PMID:
26593197
20.

Treatment of experimental murine colitis with CD40 antisense oligonucleotides delivered in amphoteric liposomes.

Arranz A, Reinsch C, Papadakis KA, Dieckmann A, Rauchhaus U, Androulidaki A, Zacharioudaki V, Margioris AN, Tsatsanis C, Panzner S.

J Control Release. 2013 Feb 10;165(3):163-72. doi: 10.1016/j.jconrel.2012.11.008. Epub 2012 Nov 21.

PMID:
23178664

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