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Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: fischer d. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V. Dierick I, et al. Among authors: fischer d. Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5. Brain. 2008. PMID: 18325928
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Kennerson ML, et al. Among authors: fischer d. Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170900 Free PMC article.
FOGS: A SNPSTR Marker Database to Combat Wildlife Trafficking and a Cell Culture Bank for Ex-Situ Conservation.
Mozer A, Di-Nizo CB, Consul A, Huettel B, Jäger R, Akintayo A, Erhardt C, Fenner L, Fischer D, Forat S, Gimnich F, Grobe P, Martin S, Nathan V, Saeed A, von der Mark L, Woehle C, Olek K, Misof B, Astrin JJ. Mozer A, et al. Among authors: fischer d. Mol Ecol Resour. 2025 Jan 10:e14062. doi: 10.1111/1755-0998.14062. Online ahead of print. Mol Ecol Resour. 2025. PMID: 39794918
A creatine efflux transporter in oligodendrocytes.
Flögel S, Strater M, Fischer D, Gründemann D. Flögel S, et al. Among authors: fischer d. FEBS J. 2025 Jan 10. doi: 10.1111/febs.17382. Online ahead of print. FEBS J. 2025. PMID: 39792585
Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.
Kesenheimer EM, Wendebourg MJ, Weidensteiner C, Sander L, Weigel M, Haas T, Fischer D, Neuwirth C, Braun N, Weber M, Granziera C, Sinnreich M, Bieri O, Schlaeger R. Kesenheimer EM, et al. Among authors: fischer d. J Neurol. 2025 Jan 7;272(1):102. doi: 10.1007/s00415-024-12740-3. J Neurol. 2025. PMID: 39775109 Free PMC article.
2,410 results