Talim B - Search Results

1

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. Agrawal PB, et al. Among authors: talim b. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087613 Free PMC article.

2

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, Akçören Z, Renda Y, Muntoni F, Topaloğlu H. Haliloglu G, et al. Among authors: talim b. Neuropediatrics. 2002 Dec;33(6):314-9. doi: 10.1055/s-2002-37087. Neuropediatrics. 2002. PMID: 12571787

3

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F. Topaloglu H, et al. Among authors: talim b. Neurology. 2003 Mar 25;60(6):988-92. doi: 10.1212/01.wnl.0000052996.14099.dc. Neurology. 2003. PMID: 12654965

4

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: talim b. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799

5

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H. Balci B, et al. Among authors: talim b. Neuromuscul Disord. 2005 Apr;15(4):271-5. doi: 10.1016/j.nmd.2005.01.013. Neuromuscul Disord. 2005. PMID: 15792865

6

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

Haliloglu G, Gross C, Senbil N, Talim B, Hehr U, Uyanik G, Winkler J, Topaloglu H. Haliloglu G, et al. Among authors: talim b. Acta Myol. 2004 Dec;23(3):137-9. Acta Myol. 2004. PMID: 15938569

7

Beta-sarcoglycan gene mutations in Turkey.

Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P. Balci B, et al. Among authors: talim b. Acta Myol. 2004 Dec;23(3):154-8. Acta Myol. 2004. PMID: 15938573

8

Calpain-3 mutations in Turkey.

Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P. Balci B, et al. Among authors: talim b. Eur J Pediatr. 2006 May;165(5):293-8. doi: 10.1007/s00431-005-0046-3. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411092

9

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: talim b. Eur J Hum Genet. 2008 Sep;16(9):1055-61. doi: 10.1038/ejhg.2008.60. Epub 2008 Apr 2. Eur J Hum Genet. 2008. PMID: 18382475

10

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P. Gundesli H, et al. Among authors: talim b. Am J Hum Genet. 2010 Dec 10;87(6):834-41. doi: 10.1016/j.ajhg.2010.10.017. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109228 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

150 results

Search Page

Filters