Demir E - Search Results

1

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Demir E, et al. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992252 Free PMC article.

2

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P. Demir E, et al. Neuropediatrics. 2004 Apr;35(2):103-12. doi: 10.1055/s-2004-815832. Neuropediatrics. 2004. PMID: 15127309

3

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.

Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognibene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, Maraldi NM. Squarzoni S, et al. Among authors: demir e. J Cell Physiol. 2006 Jan;206(1):160-6. doi: 10.1002/jcp.20443. J Cell Physiol. 2006. PMID: 15965965

4

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. Bomont P, et al. Among authors: demir e. Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701. Nat Genet. 2000. PMID: 11062483

5

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: demir e. 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.

6

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

Cavalier L, BenHamida C, Amouri R, Belal S, Bomont P, Lagarde N, Gressin L, Callen D, Demir E, Topaloglu H, Landrieu P, Ioos C, Hamida MB, Koenig M, Hentati F. Cavalier L, et al. Among authors: demir e. Eur J Hum Genet. 2000 Jul;8(7):527-34. doi: 10.1038/sj.ejhg.5200476. Eur J Hum Genet. 2000. PMID: 10909853

7

Giant axonal neuropathy: clinical and genetic study in six cases.

Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H. Demir E, et al. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):825-32. doi: 10.1136/jnnp.2003.035162. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897506 Free PMC article.

8

Andermann syndrome in a Turkish patient.

Demir E, Irobi J, Erdem S, Demirci M, Tan E, Timmerman V, De Jonghe P, Topaloglu H. Demir E, et al. J Child Neurol. 2003 Jan;18(1):76-9. doi: 10.1177/08830738030180011901. J Child Neurol. 2003. PMID: 12661946

9

Clinical and genetic correlate in childhood onset Friedreich ataxia.

Alikaşifoglu M, Topaloglu H, Tunçbilek E, Ceviz N, Anar B, Demir E, Ozme S. Alikaşifoglu M, et al. Among authors: demir e. Neuropediatrics. 1999 Apr;30(2):72-6. doi: 10.1055/s-2007-973463. Neuropediatrics. 1999. PMID: 10401688 Clinical Trial.

10

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Uyanik G, et al. Among authors: demir e. Neurology. 2006 Apr 11;66(7):1044-8. doi: 10.1212/01.wnl.0000204181.31175.8b. Neurology. 2006. PMID: 16606917

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