Tolun A - Search Results

1

A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?

Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ. Burmeister M, et al. Among authors: tolun a. Autophagy. 2016 Jul 2;12(7):1208-9. doi: 10.1080/15548627.2016.1170266. Epub 2016 Apr 22. Autophagy. 2016. PMID: 27105143 Free PMC article. No abstract available.

2

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. Kim M, et al. Among authors: tolun a. Elife. 2016 Jan 26;5:e12245. doi: 10.7554/eLife.12245. Elife. 2016. PMID: 26812546 Free PMC article.

3

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205

4

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A. Mavioğlu RN, et al. Among authors: tolun a. Clin Genet. 2019 Nov;96(5):456-460. doi: 10.1111/cge.13612. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31353455

5

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. Mumtaz S, et al. Among authors: tolun a. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333564

6

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.

Yıldız Bölükbaşı E, Shabbir RMK, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. J Hum Genet. 2021 Feb;66(2):171-179. doi: 10.1038/s10038-020-0817-8. Epub 2020 Aug 10. J Hum Genet. 2021. PMID: 32778762

7

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Malik S, Nalbant G, Noreen M, Afzal M, Tolun A. Malik S, et al. Among authors: tolun a. Am J Med Genet A. 2022 Jan;188(1):343-349. doi: 10.1002/ajmg.a.62514. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569147

8

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10. J Med Genet. 2018. PMID: 29127258

9

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Shabbir RMK, et al. Among authors: tolun a. J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7. J Med Genet. 2018. PMID: 29514872

10

Novel EDAR mutation in tooth agenesis and variable associated features.

Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Mumtaz S, et al. Among authors: tolun a. Eur J Med Genet. 2020 Sep;63(9):103926. doi: 10.1016/j.ejmg.2020.103926. Epub 2020 Apr 20. Eur J Med Genet. 2020. PMID: 32325225

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