Roos A - Search Results

1

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model.

Rohm M, Volke L, Schlaffke L, Rehmann R, Südkamp N, Roos A, Schänzer A, Hentschel A, Vorgerd M. Rohm M, et al. Among authors: roos a. Cells. 2023 Jun 11;12(12):1602. doi: 10.3390/cells12121602. Cells. 2023. PMID: 37371072 Free PMC article.

2

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H. O'Connor E, et al. Among authors: roos a. Cells. 2019 Aug 7;8(8):848. doi: 10.3390/cells8080848. Cells. 2019. PMID: 31394789 Free PMC article.

3

Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.

Grande V, Hathazi D, O'Connor E, Marteau T, Schara-Schmidt U, Hentschel A, Gourdon G, Nikolenko N, Lochmüller H, Roos A. Grande V, et al. Among authors: roos a. J Neuromuscul Dis. 2021;8(4):603-619. doi: 10.3233/JND-200558. J Neuromuscul Dis. 2021. PMID: 33682722

4

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Töpf A, et al. Among authors: roos a. Eur J Hum Genet. 2021 Sep;29(9):1348-1353. doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075209 Free PMC article.

5

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Braun F, et al. Among authors: roos a. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

6

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Gangfuß A, et al. Among authors: roos a. J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18. J Pathol. 2022. PMID: 34599609

7

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Della Marina A, et al. Among authors: roos a. Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481. Cells. 2021. PMID: 34943989 Free PMC article.

8

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.

Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A. Schorling DC, et al. Among authors: roos a. Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35318785

9

Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.

Preuße C, Paesler B, Nelke C, Cengiz D, Müntefering T, Roos A, Amelin D, Allenbach Y, Uruha A, Dittmayer C, Hentschel A, Pawlitzki M, Hoffmann S, Timm S, Louis SL, Dengler NF, Wiendl H, Lünemann JD, Sickmann A, Hervier B, Meuth SG, Schneider U, Schänzer A, Krause S, Tomaras S, Feist E, Hasseli R, Goebel HH, Gallay L, Streichenberger N, Benveniste O, Stenzel W, Ruck T. Preuße C, et al. Among authors: roos a. Acta Neuropathol. 2022 Aug;144(2):353-372. doi: 10.1007/s00401-022-02438-z. Epub 2022 May 25. Acta Neuropathol. 2022. PMID: 35612662 Free PMC article.

10

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A. Kölbel H, et al. Among authors: roos a. Genes (Basel). 2022 May 17;13(5):893. doi: 10.3390/genes13050893. Genes (Basel). 2022. PMID: 35627278 Free PMC article.

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