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For: Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol 2020;19:522-32. [PMID: 32470424 DOI: 10.1016/S1474-4422(20)30028-4] [Cited by in Crossref: 23] [Cited by in F6Publishing: 26] [Article Influence: 11.5] [Reference Citation Analysis]
Number Citing Articles
1 Gargan S, Dowling P, Zweyer M, Henry M, Meleady P, Swandulla D, Ohlendieck K. Proteomic Identification of Markers of Membrane Repair, Regeneration and Fibrosis in the Aged and Dystrophic Diaphragm. Life 2022;12:1679. [DOI: 10.3390/life12111679] [Reference Citation Analysis]
2 Ng KWP, Chin H, Chin AXY, Goh DL. Using gene panels in the diagnosis of neuromuscular disorders: A mini-review. Front Neurol 2022;13:997551. [DOI: 10.3389/fneur.2022.997551] [Reference Citation Analysis]
3 Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-schmidt U, Preuße C, Roos A. New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes 2022;13:893. [DOI: 10.3390/genes13050893] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Haliloglu G. Neonatal presentations of neuromuscular disorders. Eur J Paediatr Neurol 2022;38:A6-A11. [PMID: 35570117 DOI: 10.1016/j.ejpn.2022.04.003] [Reference Citation Analysis]
5 Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-schmidt U, Fürst DO, van der Ven PF, Hahn A, Roos A, Schänzer A. Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). Molecular Genetics and Metabolism 2022. [DOI: 10.1016/j.ymgme.2022.05.005] [Reference Citation Analysis]
6 Hong SE, Kneissl J, Cho A, Kim MJ, Park S, Lee J, Woo S, Kim S, Kim JS, Kim SY, Jung S, Kim J, Shin JY, Chae JH, Choi M. Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases. J Med Genet 2022:jmedgenet-2021-108307. [PMID: 35387801 DOI: 10.1136/jmedgenet-2021-108307] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 Olimpio C, Tiet MY, Horvath R. Primary mitochondrial myopathies in childhood. Neuromuscul Disord 2021;31:978-87. [PMID: 34736635 DOI: 10.1016/j.nmd.2021.08.005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Illarioshkin SN, Seliverstov YA, Klyushnikov SA. Problems of early diagnosis of hereditary neurological diseases. Ross vestn perinatol pediatr 2021;66:8-15. [DOI: 10.21508/1027-4065-2021-66-4-8-15] [Reference Citation Analysis]
9 Ohlendieck K, Swandulla D. Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy. Pflugers Arch 2021;473:1813-39. [PMID: 34553265 DOI: 10.1007/s00424-021-02623-1] [Cited by in Crossref: 5] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
10 Gargan S, Dowling P, Zweyer M, Reimann J, Henry M, Meleady P, Swandulla D, Ohlendieck K. Mass Spectrometric Profiling of Extraocular Muscle and Proteomic Adaptations in the mdx-4cv Model of Duchenne Muscular Dystrophy. Life (Basel) 2021;11:595. [PMID: 34206383 DOI: 10.3390/life11070595] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
11 Yubero D, Natera-de Benito D, Pijuan J, Armstrong J, Martorell L, Fernàndez G, Maynou J, Jou C, Roldan M, Ortez C, Nascimento A, Hoenicka J, Palau F. The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. Int J Mol Sci 2021;22:4274. [PMID: 33924139 DOI: 10.3390/ijms22084274] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 6.0] [Reference Citation Analysis]
12 Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021;11:701. [PMID: 33919863 DOI: 10.3390/diagnostics11040701] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
13 Lupica A, Di Stefano V, Gagliardo A, Iacono S, Pignolo A, Ferlisi S, Torrente A, Pagano S, Gangitano M, Brighina F. Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? Brain Sci 2021;11:398. [PMID: 33801069 DOI: 10.3390/brainsci11030398] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
14 Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, Reimann J, Roos A. Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases. Orphanet J Rare Dis 2021;16:73. [PMID: 33563298 DOI: 10.1186/s13023-020-01669-1] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 11.0] [Reference Citation Analysis]
15 Dowling P, Gargan S, Murphy S, Zweyer M, Sabir H, Swandulla D, Ohlendieck K. The Dystrophin Node as Integrator of Cytoskeletal Organization, Lateral Force Transmission, Fiber Stability and Cellular Signaling in Skeletal Muscle. Proteomes 2021;9:9. [PMID: 33540575 DOI: 10.3390/proteomes9010009] [Cited by in Crossref: 11] [Cited by in F6Publishing: 13] [Article Influence: 11.0] [Reference Citation Analysis]
16 References. Child Neurology 2021. [DOI: 10.1016/b978-0-12-821635-4.00271-x] [Reference Citation Analysis]
17 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 10] [Reference Citation Analysis]
18 Karpicheva OE, Simonyan AO, Rysev NA, Redwood CS, Borovikov YS. Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin. Int J Mol Sci 2020;21:E7590. [PMID: 33066566 DOI: 10.3390/ijms21207590] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
19 Dowling P, Gargan S, Zweyer M, Henry M, Meleady P, Swandulla D, Ohlendieck K. Proteome-wide Changes in the mdx-4cv Spleen due to Pathophysiological Cross Talk with Dystrophin-Deficient Skeletal Muscle. iScience 2020;23:101500. [PMID: 32916630 DOI: 10.1016/j.isci.2020.101500] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 6.0] [Reference Citation Analysis]