Thöny B - Search Results

1

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Ismail HM, Krishnamoorthy N, Al-Dewik N, Zayed H, Mohamed NA, Giacomo VD, Gupta S, Häberle J, Thöny B, Blom HJ, Kruger WD, Ben-Omran T, Nasrallah GK. Ismail HM, et al. Among authors: thony b. Hum Mutat. 2019 Feb;40(2):230-240. doi: 10.1002/humu.23682. Epub 2018 Nov 23. Hum Mutat. 2019. PMID: 30408270 Free PMC article.

2

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N. Oppliger T, et al. Among authors: thony b. Hum Mutat. 1997;10(1):25-35. doi: 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9222757

3

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

Scherer-Oppliger T, Matasovic A, Laufs S, Levy HL, Quackenbush EJ, Blau N, Thöny B. Scherer-Oppliger T, et al. Among authors: thony b. Hum Mutat. 1999;13(4):286-9. doi: 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C. Hum Mutat. 1999. PMID: 10220141

4

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N. Zurflüh MR, et al. Among authors: thony b. Hum Mutat. 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. Hum Mutat. 2008. PMID: 17935162

5

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR. Rivera-Barahona A, et al. Among authors: thony b. PLoS One. 2015 Apr 8;10(4):e0122966. doi: 10.1371/journal.pone.0122966. eCollection 2015. PLoS One. 2015. PMID: 25853564 Free PMC article.

6

Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.

Stoller F, Schlegel A, Viecelli HM, Rüfenacht V, Cesarovic N, Viecelli C, Deplazes S, Bettschart R, Hurter K, Schmierer P, Sidler X, Kron P, Dutkowski P, Graf R, Thöny B, Häberle J. Stoller F, et al. Among authors: thony b. Hum Gene Ther Methods. 2015 Oct;26(5):181-92. doi: 10.1089/hgtb.2014.140. Epub 2015 Sep 23. Hum Gene Ther Methods. 2015. PMID: 26398117 Free article.

7

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

Allegri G, Deplazes S, Grisch-Chan HM, Mathis D, Fingerhut R, Häberle J, Thöny B. Allegri G, et al. Among authors: thony b. Clin Chim Acta. 2017 Jan;464:236-243. doi: 10.1016/j.cca.2016.11.038. Epub 2016 Dec 5. Clin Chim Acta. 2017. PMID: 27923571

8

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ. Gallego-Villar L, et al. Among authors: thony b. J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. J Inherit Metab Dis. 2017. PMID: 28643139 Free PMC article. Review.

9

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.

Villiger L, Grisch-Chan HM, Lindsay H, Ringnalda F, Pogliano CB, Allegri G, Fingerhut R, Häberle J, Matos J, Robinson MD, Thöny B, Schwank G. Villiger L, et al. Among authors: thony b. Nat Med. 2018 Oct;24(10):1519-1525. doi: 10.1038/s41591-018-0209-1. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297904 Free article.

10

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.

Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A. Jung-Kc K, et al. Among authors: thony b. Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6. Hum Mutat. 2019. PMID: 30667134

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

181 results

Search Page