Rolfs A - Search Results

1

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L. Jilani H, et al. Among authors: rolfs a. Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May. Clin Case Rep. 2022. PMID: 35592045 Free PMC article.

2

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.

Dinur T, Zimran A, Becker-Cohen M, Arkadir D, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Revel-Vilk S. Dinur T, et al. Among authors: rolfs a. J Clin Med. 2019 Oct 11;8(10):1662. doi: 10.3390/jcm8101662. J Clin Med. 2019. PMID: 31614613 Free PMC article.

3

Genetic characterization of the Albanian Gaucher disease patient population.

Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A. Cullufi P, et al. Among authors: rolfs a. JIMD Rep. 2020 Nov 17;57(1):52-57. doi: 10.1002/jmd2.12167. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473340 Free PMC article.

4

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Lentze MJ, Abzianidze E, Skrahina V, Rolfs A. Tkemaladze T, et al. Among authors: rolfs a. Respir Med Case Rep. 2022 Oct 5;40:101750. doi: 10.1016/j.rmcr.2022.101750. eCollection 2022. Respir Med Case Rep. 2022. PMID: 36238659 Free PMC article.

5

Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.

Csányi B, Hategan L, Nagy V, Obál I, Varga ET, Borbás J, Tringer A, Eichler S, Forster T, Rolfs A, Sepp R. Csányi B, et al. Among authors: rolfs a. Int Heart J. 2017 May 31;58(3):454-458. doi: 10.1536/ihj.16-361. Epub 2017 May 12. Int Heart J. 2017. PMID: 28496025 Free article.

6

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.

Lim JL, Lohmann K, Tan AH, Tay YW, Ibrahim KA, Abdul Aziz Z, Mawardi AS, Puvanarajah SD, Lim TT, Looi I, Ooi JCE, Chia YK, Muthusamy KA, Bauer P, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Lim JL, et al. Among authors: rolfs a. J Neural Transm (Vienna). 2022 Jan;129(1):37-48. doi: 10.1007/s00702-021-02421-0. Epub 2021 Nov 15. J Neural Transm (Vienna). 2022. PMID: 34779914

7

Unmet needs in human genomic variant interpretation.

Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Among authors: rolfs a. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.

8

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Yüksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P. Yüksel Z, et al. Among authors: rolfs a. Clin Genet. 2019 May;95(5):631-633. doi: 10.1111/cge.13513. Epub 2019 Feb 21. Clin Genet. 2019. PMID: 30791088 No abstract available.

9

Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations.

Dinur T, Grittner U, Revel-Vilk S, Becker-Cohen M, Istaiti M, Cozma C, Rolfs A, Zimran A. Dinur T, et al. Among authors: rolfs a. Int J Mol Sci. 2021 Jul 19;22(14):7699. doi: 10.3390/ijms22147699. Int J Mol Sci. 2021. PMID: 34299318 Free PMC article.

10

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Dinur T, Bauer P, Beetz C, Kramp G, Cozma C, Iurașcu MI, Becker-Cohen M, Istaiti M, Rolfs A, Zimran A, Revel-Vilk S. Dinur T, et al. Among authors: rolfs a. Int J Mol Sci. 2022 Jan 30;23(3):1627. doi: 10.3390/ijms23031627. Int J Mol Sci. 2022. PMID: 35163551 Free PMC article.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

429 results

Search Page

Filters