Karaduman A - Search Results

1

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: karaduman a. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11590543 Free PMC article.

2

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF. Fischer J, et al. Among authors: karaduman a. Am J Hum Genet. 2000 Mar;66(3):904-13. doi: 10.1086/302814. Am J Hum Genet. 2000. PMID: 10712205 Free PMC article.

3

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.

Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu AN, Ozgüç M. Topaloğlu H, et al. Among authors: karaduman a. Neuropediatrics. 1998 Aug;29(4):189-94. doi: 10.1055/s-2007-973559. Neuropediatrics. 1998. PMID: 9762694

4

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

Topaloğlu H, Kale G, Yalnizoğlu D, Taşdemir AH, Karaduman A, Topçu M, Kotiloğlu E. Topaloğlu H, et al. Among authors: karaduman a. Neuropediatrics. 1994 Apr;25(2):94-100. doi: 10.1055/s-2008-1071593. Neuropediatrics. 1994. PMID: 8072682

5

Calpain-3 deficiency causes a mild muscular dystrophy in childhood.

Topaloğlu H, Dinçer P, Richard I, Akçören Z, Alehan D, Ozme S, Cağlar M, Karaduman A, Urtizberea JA, Beckmann JS. Topaloğlu H, et al. Among authors: karaduman a. Neuropediatrics. 1997 Aug;28(4):212-6. doi: 10.1055/s-2007-973702. Neuropediatrics. 1997. PMID: 9309711

6

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Dinçer P, Akçören Z, Demir E, Richard I, Sancak O, Kale G, Ozme S, Karaduman A, Tan E, Urtizberea JA, Beckmann JS, Topaloğlu H. Dinçer P, et al. Among authors: karaduman a. J Med Genet. 2000 May;37(5):361-7. doi: 10.1136/jmg.37.5.361. J Med Genet. 2000. PMID: 10807695 Free PMC article.

7

Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis.

Yilmaz O, Karaduman A, Topaloğlu H. Yilmaz O, et al. Among authors: karaduman a. Eur J Neurol. 2004 Aug;11(8):541-4. doi: 10.1111/j.1468-1331.2004.00866.x. Eur J Neurol. 2004. PMID: 15272899 Clinical Trial.

8

Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements.

Haliloglu G, Karaduman A, Topaloglu H. Haliloglu G, et al. Among authors: karaduman a. Neuromuscul Disord. 2017 Oct;27(10):973. doi: 10.1016/j.nmd.2017.06.555. Epub 2017 Jul 3. Neuromuscul Disord. 2017. PMID: 28711279 No abstract available.

9

Effect of muscle weakness distribution on balance in neuromuscular disease.

Kaya P, Alemdaroğlu İ, Yılmaz Ö, Karaduman A, Topaloğlu H. Kaya P, et al. Among authors: karaduman a. Pediatr Int. 2015;57(1):92-7. doi: 10.1111/ped.12428. Epub 2014 Oct 15. Pediatr Int. 2015. PMID: 24978611

10

Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report.

Yilmaz O, Alemdaroğlu I, Karaduman A, Haliloğlu G, Topaloğlu H. Yilmaz O, et al. Among authors: karaduman a. Turk J Pediatr. 2011 Jul-Aug;53(4):471-6. Turk J Pediatr. 2011. PMID: 21980856

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