Tolun A - Search Results

1

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Yüceyar N, Ayhan Ö, Karasoy H, Tolun A. Yüceyar N, et al. Among authors: tolun a. Neuromuscul Disord. 2015 Apr;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26. Neuromuscul Disord. 2015. PMID: 25666907

2

Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.

Onengüt S, Uğur SA, Karasoy H, Yüceyar N, Tolun A. Onengüt S, et al. Among authors: tolun a. Neuromuscul Disord. 2004 Jan;14(1):4-9. doi: 10.1016/s0960-8966(03)00163-9. Neuromuscul Disord. 2004. PMID: 14659406

3

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A. Kara B, et al. Among authors: tolun a. BMC Med Genet. 2014 Jan 16;15:10. doi: 10.1186/1471-2350-15-10. BMC Med Genet. 2014. PMID: 24433453 Free PMC article.

4

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A. Köroğlu Ç, et al. Among authors: tolun a. Parkinsonism Relat Disord. 2013 Mar;19(3):320-4. doi: 10.1016/j.parkreldis.2012.11.006. Epub 2012 Dec 2. Parkinsonism Relat Disord. 2013. PMID: 23211418

5

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.

Ayhan Ö, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A. Ayhan Ö, et al. Among authors: tolun a. J Med Genet. 2014 Apr;51(4):239-44. doi: 10.1136/jmedgenet-2013-102102. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431330

6

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P. Durmuş H, et al. Among authors: tolun a. Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20. Neurology. 2016. PMID: 27440146

7

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Ugur Iseri SA, Durlu YK, Tolun A. Ugur Iseri SA, et al. Among authors: tolun a. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. Epub 2010 Jun 2. Eur J Hum Genet. 2010. PMID: 20517349 Free PMC article.

8

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A. Guven A, et al. Among authors: tolun a. Neurogenetics. 2012 Aug;13(3):189-94. doi: 10.1007/s10048-012-0326-9. Epub 2012 Apr 15. Neurogenetics. 2012. PMID: 22526350

9

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A. Kara B, et al. Among authors: tolun a. Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051070 Free PMC article.

10

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Ugur SA, Tolun A. Ugur SA, et al. Among authors: tolun a. Hum Mol Genet. 2008 Sep 1;17(17):2644-53. doi: 10.1093/hmg/ddn164. Epub 2008 May 30. Hum Mol Genet. 2008. PMID: 18515319

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