Rolfs A - Search Results

1

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Al-Kindi A, Al-Shehhi M, Westenberger A, Beetz C, Scott P, Brandau O, Abbasi-Moheb L, Yüksel Z, Bauer P, Rolfs A, Grüning NM. Al-Kindi A, et al. Among authors: rolfs a. J Hum Genet. 2020 Jan;65(2):193-197. doi: 10.1038/s10038-019-0693-2. Epub 2019 Nov 26. J Hum Genet. 2020. PMID: 31767933

2

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A. Bauer P, et al. Among authors: rolfs a. Hum Mutat. 2002 Jan;19(1):30-8. doi: 10.1002/humu.10016. Hum Mutat. 2002. PMID: 11754101

3

Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation.

Böttcher T, Mix E, Koczan D, Bauer P, Pahnke J, Peters S, Weinelt S, Knoblich R, Strauss U, Cattaneo E, Thiesen HJ, Rolfs A. Böttcher T, et al. Among authors: rolfs a. J Neurosci Res. 2003 Jul 1;73(1):42-53. doi: 10.1002/jnr.10624. J Neurosci Res. 2003. PMID: 12815707

4

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Rolfs A, et al. Ann Neurol. 2003 Sep;54(3):367-75. doi: 10.1002/ana.10676. Ann Neurol. 2003. PMID: 12953269

5

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

Tomiuk J, Bachmann L, Bauer C, Rolfs A, Schöls L, Roos C, Zischler H, Schuler MM, Bruntner S, Riess O, Bauer P. Tomiuk J, et al. Among authors: rolfs a. Eur J Hum Genet. 2007 Jan;15(1):81-7. doi: 10.1038/sj.ejhg.5201721. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033685

6

Specific properties of sodium currents in multipotent striatal progenitor cells.

Wasner U, Geist B, Battefeld A, Bauer P, Müller J, Rolfs A, Strauss U. Wasner U, et al. Among authors: rolfs a. Eur J Neurosci. 2008 Sep;28(6):1068-79. doi: 10.1111/j.1460-9568.2008.06427.x. Epub 2008 Sep 9. Eur J Neurosci. 2008. PMID: 18783365

7

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.

Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. Westenberger A, et al. Among authors: rolfs a. Mov Disord. 2013 May;28(5):675-8. doi: 10.1002/mds.25369. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389859

8

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A. Lukas J, et al. Among authors: rolfs a. Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27. Hum Mutat. 2016. PMID: 26415523

9

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM. Hollink IH, et al. Among authors: rolfs a. J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134. Epub 2015 Nov 26. J Hum Genet. 2016. PMID: 26607181

10

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: rolfs a. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.

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