Melberg A - Search Results

1

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE. Kuhl A, et al. Among authors: melberg a. Eur J Hum Genet. 2008 Mar;16(3):367-73. doi: 10.1038/sj.ejhg.5201980. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197198

2

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Among authors: melberg a. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395865 Free PMC article.

3

Reply to Brodehl et al.

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Hedberg C, et al. Among authors: melberg a. Eur J Hum Genet. 2013 Jun;21(6):590. doi: 10.1038/ejhg.2012.214. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032113 Free PMC article. No abstract available.

4

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Melberg A, Oldfors A, Blomström-Lundqvist C, Stålberg E, Carlsson B, Larrson E, Lidell C, Eeg-Olofsson KE, Wikström G, Henriksson G, Dahl N. Melberg A, et al. Ann Neurol. 1999 Nov;46(5):684-92. doi: 10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#. Ann Neurol. 1999. PMID: 10970245

5

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E, Pääbo S. Börner GV, et al. Among authors: melberg a. Hum Mol Genet. 2000 Mar 1;9(4):467-75. doi: 10.1093/hmg/9.4.467. Hum Mol Genet. 2000. PMID: 10699170

6

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. Winkelmann J, et al. Among authors: melberg a. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9. Hum Mol Genet. 2012. PMID: 22328086 Free PMC article.

7

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A. Kollberg G, et al. Among authors: melberg a. Eur J Hum Genet. 2005 Apr;13(4):463-9. doi: 10.1038/sj.ejhg.5201341. Eur J Hum Genet. 2005. PMID: 15702133

8

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.

Marklund L, Melin M, Melberg A, Giedraitis V, Dahl N. Marklund L, et al. Among authors: melberg a. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):608-14. doi: 10.1002/ajmg.b.30342. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16823806

9

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.

Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Björck EJ, Wahlström J, Melberg A, Holmgren G, Forsgren L, Holmberg M. Jonasson J, et al. Among authors: melberg a. Eur J Hum Genet. 2000 Dec;8(12):918-22. doi: 10.1038/sj.ejhg.5200557. Eur J Hum Genet. 2000. PMID: 11175279

10

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A. Ohlsson M, et al. Among authors: melberg a. Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9. Brain. 2012. PMID: 22577218

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