Schara-Schmidt U - Search Results

1

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.

Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, Reimann J, Roos A. Hentschel A, et al. Orphanet J Rare Dis. 2021 Feb 9;16(1):73. doi: 10.1186/s13023-020-01669-1. Orphanet J Rare Dis. 2021. PMID: 33563298 Free PMC article.

2

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Paul L, et al. Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. Orphanet J Rare Dis. 2020. PMID: 32907597 Free PMC article.

3

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Gangfuss A, Schmitt D, Roos A, Braun F, Annoussamy M, Servais L, Schara-Schmidt U. Gangfuss A, et al. J Neuromuscul Dis. 2021;8(1):79-90. doi: 10.3233/JND-200539. J Neuromuscul Dis. 2021. PMID: 33164942 Free PMC article.

4

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. J Neuromuscul Dis. 2021;8(4):603-619. doi: 10.3233/JND-200558. J Neuromuscul Dis. 2021. PMID: 33682722

5

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Kölbel H, Preuße C, Brand L, von Moers A, Della Marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Kölbel H, et al. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. doi: 10.1111/nan.12730. Epub 2021 May 28. Neuropathol Appl Neurobiol. 2021. PMID: 33973272

6

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. 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.

7

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. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

8

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A. Gangfuß A, et al. Am J Med Genet A. 2022 Jan;188(1):283-291. doi: 10.1002/ajmg.a.62494. Epub 2021 Sep 14. Am J Med Genet A. 2022. PMID: 34519148

9

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.

Della Marina A, Pawlitzki M, Ruck T, van Baalen A, Vogt N, Schweiger B, Hertel S, Kölbel H, Wiendl H, Preuße C, Roos A, Schara-Schmidt U. Della Marina A, et al. Children (Basel). 2021 Aug 24;8(9):721. doi: 10.3390/children8090721. Children (Basel). 2021. PMID: 34572153 Free PMC article.

10

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. J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18. J Pathol. 2022. PMID: 34599609

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