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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: udd b. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.
Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keränen ML, Bergmark L, Saarinen A, Haltia T, Tarvainen I, Kinnunen E, Udd B, Marklund SL. Andersen PM, et al. Among authors: udd b. Brain. 1996 Aug;119 ( Pt 4):1153-72. doi: 10.1093/brain/119.4.1153. Brain. 1996. PMID: 8813280
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
Lund A, Udd B, Juvonen V, Andersen PM, Cederquist K, Ronnevi LO, Sistonen P, Sörensen SA, Tranebjaerg L, Wallgren-Pettersson C, Savontaus ML. Lund A, et al. Among authors: udd b. Eur J Hum Genet. 2000 Aug;8(8):631-6. doi: 10.1038/sj.ejhg.5200517. Eur J Hum Genet. 2000. PMID: 10951525
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Duff RM, et al. Among authors: udd b. Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620354 Free PMC article.
Screening for late-onset Pompe disease in Finland.
Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B. Palmio J, et al. Among authors: udd b. Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25047669
310 results