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A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17.
J Med Genet. 2013.
PMID: 24136862
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N.
Kloth K, et al. Among authors: schimpf linzenbold s.
BMC Med Genet. 2019 Apr 8;20(1):62. doi: 10.1186/s12881-019-0795-x.
BMC Med Genet. 2019.
PMID: 30961538
Free PMC article.
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Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R.
Neumann MA, et al. Among authors: schimpf linzenbold s.
Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4.
Sci Rep. 2020.
PMID: 33028849
Free PMC article.
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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B.
Weisschuh N, et al. Among authors: schimpf linzenbold s.
PLoS One. 2021 Jul 9;16(7):e0253987. doi: 10.1371/journal.pone.0253987. eCollection 2021.
PLoS One. 2021.
PMID: 34242285
Free PMC article.
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Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.
Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B.
Llavona P, et al. Among authors: schimpf linzenbold s.
Genes (Basel). 2017 Oct 20;8(10):283. doi: 10.3390/genes8100283.
Genes (Basel). 2017.
PMID: 29053642
Free PMC article.
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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G.
Charif M, et al. Among authors: schimpf linzenbold s.
Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021.
Brain Commun. 2021.
PMID: 34056600
Free PMC article.
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The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.
Mihailovic N, Schimpf-Linzenbold S, Sattler I, Eter N, Heiduschka P.
Mihailovic N, et al. Among authors: schimpf linzenbold s.
Ophthalmic Genet. 2022 Oct;43(5):679-684. doi: 10.1080/13816810.2022.2083181. Epub 2022 Jun 1.
Ophthalmic Genet. 2022.
PMID: 35652150
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Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E.
Nowomiejska K, et al. Among authors: schimpf linzenbold s.
Acta Ophthalmol. 2022 May;100(3):e847-e858. doi: 10.1111/aos.14958. Epub 2021 Jul 29.
Acta Ophthalmol. 2022.
PMID: 34327816
Free PMC article.
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