Schröder R - Search Results

1

Making sense of missense variants in TTN-related congenital myopathies.

Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: schroder r. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.

2

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R. Winter L, et al. Among authors: schroder r. Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7. Acta Neuropathol Commun. 2016. PMID: 27121971 Free PMC article.

3

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R. Brackmann F, et al. Among authors: schroder r. Neuromuscul Disord. 2018 Jan;28(1):54-58. doi: 10.1016/j.nmd.2017.09.009. Epub 2017 Sep 28. Neuromuscul Disord. 2018. PMID: 29169929

4

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R. Clemen CS, et al. Among authors: schroder r. Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941. Hum Mutat. 2009. PMID: 19105189

5

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.

Türk M, Nagel AM, Roemer F, Schlötzer-Schrehardt U, Thiel CT, Winterholler M, Schröder R. Türk M, et al. Among authors: schroder r. BMC Musculoskelet Disord. 2019 Nov 20;20(1):553. doi: 10.1186/s12891-019-2942-0. BMC Musculoskelet Disord. 2019. PMID: 31747907 Free PMC article.

6

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions.

Eiber N, Fröb F, Schowalter M, Thiel C, Clemen CS, Schröder R, Hashemolhosseini S. Eiber N, et al. Among authors: schroder r. Front Mol Neurosci. 2020 Oct 26;13:567084. doi: 10.3389/fnmol.2020.567084. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33192292 Free PMC article.

7

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA. Unger A, et al. Among authors: schroder r. Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0. Acta Neuropathol Commun. 2017. PMID: 28915917 Free PMC article.

8

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.

Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS. Türk M, et al. Among authors: schroder r. Neurobiol Aging. 2017 Aug;56:213.e1-213.e5. doi: 10.1016/j.neurobiolaging.2017.04.023. Epub 2017 May 3. Neurobiol Aging. 2017. PMID: 28551275

9

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P. Durmuş H, et al. Among authors: schroder r. Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20. Neurology. 2016. PMID: 27440146

10

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.

Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Schuld J, et al. Among authors: schroder r. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. Acta Neuropathol Commun. 2020. PMID: 32887649 Free PMC article.

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