Roos A - Search Results

1

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

2

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Azuma Y, et al. Among authors: roos a. Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508085 Free PMC article.

3

Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy.

Carr SJ, Zahedi RP, Lochmüller H, Roos A. Carr SJ, et al. Among authors: roos a. Proteomics Clin Appl. 2018 Mar;12(2). doi: 10.1002/prca.201700071. Epub 2017 Jul 13. Proteomics Clin Appl. 2018. PMID: 28631898 Review.

4

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A. Roos A, et al. Proteomics Clin Appl. 2018 Mar;12(2). doi: 10.1002/prca.201700073. Epub 2017 Oct 23. Proteomics Clin Appl. 2018. PMID: 29059504 Review.

5

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.

O'Connor E, Phan V, Cordts I, Cairns G, Hettwer S, Cox D, Lochmüller H, Roos A. O'Connor E, et al. Among authors: roos a. Hum Mol Genet. 2018 Apr 15;27(8):1434-1446. doi: 10.1093/hmg/ddy054. Hum Mol Genet. 2018. PMID: 29462312 Free PMC article.

6

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Boczonadi V, et al. Among authors: roos a. Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Genet Med. 2018. PMID: 29517768 Free PMC article.

7

GNE myopathy: from clinics and genetics to pathology and research strategies.

Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A. Pogoryelova O, et al. Among authors: roos a. Orphanet J Rare Dis. 2018 May 2;13(1):70. doi: 10.1186/s13023-018-0802-x. Orphanet J Rare Dis. 2018. PMID: 29720219 Free PMC article. Review.

8

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: roos a. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.

9

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S. Cipriani S, et al. Among authors: roos a. Int J Mol Sci. 2018 Dec 17;19(12):4072. doi: 10.3390/ijms19124072. Int J Mol Sci. 2018. PMID: 30562927 Free PMC article.

10

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U. Kölbel H, et al. Among authors: roos a. Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019. Front Neurol. 2019. PMID: 31133972 Free PMC article.

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