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Page 1
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M, Rettl R, Ablasser K, Agis H, Beetz C, Duca F, Gattermeier M, Glaser F, Hacker M, Kain R, Kaufmann B, Kovacs GG, Lampl C, Ljevakovic N, Nagele J, Pölzl G, Quasthoff S, Raimann B, Rauschka H, Reiter C, Skrahina V, Schuhfried O, Sunder-Plassmann R, Verheyen ND, Wanschitz J, Weber T, Windhager R, Wurm R, Zimprich F, Löscher WN, Bonderman D. Auer-Grumbach M, et al. Among authors: beetz c. J Clin Med. 2020 Jul 14;9(7):2234. doi: 10.3390/jcm9072234. J Clin Med. 2020. PMID: 32674397 Free PMC article.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: beetz c. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: beetz c. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34608165
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V, Grittner U, Beetz C, Skripuletz T, Juenemann M, Krämer HH, Hahn K, Rieth A, Schaechinger V, Patten M, Tanislav C, Achenbach S, Assmus B, Knebel F, Gingele S, Skrahin A, Hartkamp J, Förster TM, Roesner S, Pereira C, Rolfs A. Skrahina V, et al. Among authors: beetz c. Ann Med. 2021 Dec;53(1):1787-1796. doi: 10.1080/07853890.2021.1988696. Ann Med. 2021. PMID: 34658264 Free PMC article.
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H, Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Andersen PM, Beetz C, Hacker S, Holla ØL, Kurth I, Löscher WN, Reiter SBCF, Rudnik-Schöneborn S, Strand L, Windhager R, Witsch-Baumgartner M, Senderek J, Auer-Grumbach M. Høyer H, et al. Among authors: beetz c. J Med Genet. 2022 Oct;59(10):1024-1026. doi: 10.1136/jmedgenet-2021-108281. Epub 2022 Mar 22. J Med Genet. 2022. PMID: 35318247 Free PMC article. No abstract available.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: beetz c. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
148 results