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Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Mol Genet Genomic Med. 2022 Oct;10(10):e2028. doi: 10.1002/mgg3.2028. Epub 2022 Aug 1.
Mol Genet Genomic Med. 2022.
PMID: 35912688
Free PMC article.
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S.
Musacchio T, et al. Among authors: zaum ak.
J Neurol. 2017 Jan;264(1):11-20. doi: 10.1007/s00415-016-8301-2. Epub 2016 Oct 13.
J Neurol. 2017.
PMID: 27738760
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Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S.
Zaum AK, et al.
Neuromuscul Disord. 2017 Jul;27(7):631-634. doi: 10.1016/j.nmd.2017.04.003. Epub 2017 Apr 7.
Neuromuscul Disord. 2017.
PMID: 28495050
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A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J.
Zaum AK, et al.
Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20.
Neuromuscul Disord. 2018.
PMID: 30017359
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Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D, Kress W, Zaum AK, Speer CP, Hebestreit H.
Lorenz D, et al. Among authors: zaum ak.
BMC Pediatr. 2021 Jun 30;21(1):293. doi: 10.1186/s12887-021-02767-0.
BMC Pediatr. 2021.
PMID: 34193099
Free PMC article.
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Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S.
Pluta N, et al. Among authors: zaum ak.
Genes (Basel). 2022 Sep 28;13(10):1752. doi: 10.3390/genes13101752.
Genes (Basel). 2022.
PMID: 36292638
Free PMC article.
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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Pluta N, von Moers A, Pechmann A, Stenzel W, Goebel HH, Atlan D, Wolf B, Nanda I, Zaum AK, Rost S.
Pluta N, et al. Among authors: zaum ak.
Int J Mol Sci. 2023 Sep 1;24(17):13567. doi: 10.3390/ijms241713567.
Int J Mol Sci. 2023.
PMID: 37686372
Free PMC article.
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