Rost S - Search Results

1

Novel recessive myotilin mutation causes severe myofibrillar myopathy.

Schessl J, Bach E, Rost S, Feldkirchner S, Kubny C, Müller S, Hanisch FG, Kress W, Schoser B. Schessl J, et al. Among authors: rost s. Neurogenetics. 2014 Aug;15(3):151-6. doi: 10.1007/s10048-014-0410-4. Epub 2014 Jun 14. Neurogenetics. 2014. PMID: 24928145

2

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S. Larsen M, et al. Among authors: rost s. Eur J Hum Genet. 2016 Oct;24(10):1467-72. doi: 10.1038/ejhg.2016.41. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222292 Free PMC article.

3

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR. Larsen M, et al. Among authors: rost s. Eur J Hum Genet. 2015 Jun;23(6):808-16. doi: 10.1038/ejhg.2014.191. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370034 Free PMC article.

4

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

Zaum AK, Nanda I, Kress W, Rost S. Zaum AK, et al. Among authors: rost s. Mol Genet Genomic Med. 2022 Oct;10(10):e2028. doi: 10.1002/mgg3.2028. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35912688 Free PMC article.

5

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.

Mahyera AS, Schneider T, Halliger-Keller B, Schrooten K, Hörner EM, Rost S, Kress W. Mahyera AS, et al. Among authors: rost s. Front Neurol. 2018 Jun 19;9:463. doi: 10.3389/fneur.2018.00463. eCollection 2018. Front Neurol. 2018. PMID: 29973908 Free PMC article.

6

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S. Zaum AK, et al. Among authors: rost s. Neuromuscul Disord. 2017 Jul;27(7):631-634. doi: 10.1016/j.nmd.2017.04.003. Epub 2017 Apr 7. Neuromuscul Disord. 2017. PMID: 28495050

7

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C. Kress W, et al. Among authors: rost s. Neuropediatrics. 2017 Aug;48(4):242-246. doi: 10.1055/s-0037-1602660. Epub 2017 May 8. Neuropediatrics. 2017. PMID: 28482373 Review. No abstract available.

8

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J. Zaum AK, et al. Among authors: rost s. Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20. Neuromuscul Disord. 2018. PMID: 30017359

9

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

10

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

Cirnu A, Kolokotronis K, Walz K, Kilinç A, Janz A, Williams T, Busch A, Rost S, Gerull B. Cirnu A, et al. Among authors: rost s. Circ Genom Precis Med. 2021 Feb;14(1):e003217. doi: 10.1161/CIRCGEN.120.003217. Epub 2021 Feb 1. Circ Genom Precis Med. 2021. PMID: 33517666 No abstract available.

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