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Page 1
Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Among authors: wirth b. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336
Spinal muscular atrophy--clinical and genetic correlations.
Zerres K, Wirth B, Rudnik-Schöneborn S. Zerres K, et al. Among authors: wirth b. Neuromuscul Disord. 1997 May;7(3):202-7. doi: 10.1016/s0960-8966(97)00459-8. Neuromuscul Disord. 1997. PMID: 9185186 Review.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B. Heesen L, et al. Among authors: wirth b. Cell Mol Life Sci. 2016 May;73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16. Cell Mol Life Sci. 2016. PMID: 26573968
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Unger A, et al. Among authors: wirth b. Neurology. 2016 Nov 22;87(21):2235-2243. doi: 10.1212/WNL.0000000000003360. Epub 2016 Oct 26. Neurology. 2016. PMID: 27784775
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Delle Vedove A, et al. Among authors: wirth b. Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843126 Free PMC article.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Storbeck M, et al. Among authors: wirth b. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635954 Free PMC article.
PRUNE1: a disease-causing gene for secondary microcephaly.
Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B. Karakaya M, et al. Among authors: wirth b. Brain. 2017 Oct 1;140(10):e61. doi: 10.1093/brain/awx197. Brain. 2017. PMID: 28969376 No abstract available.
356 results