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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
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M. Papić L, et al. Among authors: fischer c, fischer d. Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21. Eur J Med Genet. 2011. PMID: 21172462 Free PMC article.
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.
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.
Circulation of West Nile virus and Usutu virus in birds in Germany, 2021 and 2022.
Schopf F, Sadeghi B, Bergmann F, Fischer D, Rahner R, Müller K, Günther A, Globig A, Keller M, Schwehn R, Guddorf V, Reuschel M, Fischer L, Krone O, Rinder M, Schütte K, Schmidt V, Heenemann K, Schwarzer A, Fast C, Sauter-Louis C, Staubach C, Lühken R, Schmidt-Chanasit J, Brandes F, Lierz M, Korbel R, Vahlenkamp TW, Groschup MH, Ziegler U. Schopf F, et al. Among authors: fischer d. Infect Dis (Lond). 2024 Nov 9:1-22. doi: 10.1080/23744235.2024.2419859. Online ahead of print. Infect Dis (Lond). 2024. PMID: 39520671
Hyperspectral Imaging for Microcirculatory Assessment of Patients undergoing Transcatheter and Surgical Aortic Valve Replacement-a Prospective Observational Pilot Study.
Dietrich M, Tayan A, Hölle T, Nusshag C, Kapp AC, Mertens C, Studier-Fischer A, Nickel F, Leuschner F, Weigand MA, Karck M, Lichtenstern C, Arif R, Fischer D. Dietrich M, et al. Among authors: fischer d. J Cardiovasc Transl Res. 2024 Nov 8. doi: 10.1007/s12265-024-10573-z. Online ahead of print. J Cardiovasc Transl Res. 2024. PMID: 39514071
2,396 results