Topaloglu H - Search Results

1

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Sprute R, Jergas H, Ölmez A, Alawbathani S, Karasoy H, Dafsari HS, Becker K, Daimagüler HS, Nürnberg P, Muntoni F, Topaloglu H, Uyanik G, Cirak S. Sprute R, et al. Among authors: topaloglu h. Am J Med Genet A. 2021 Feb;185(2):344-354. doi: 10.1002/ajmg.a.61951. Epub 2020 Nov 5. Am J Med Genet A. 2021. PMID: 33155358

2

Expression of HLA class I antigens in skeletal muscle is a diagnostic marker in juvenile dermatomyositis.

Topaloglu H, Muntoni F, Dubowitz V, Sewry C. Topaloglu H, et al. J Child Neurol. 1997 Jan;12(1):60-3. doi: 10.1177/088307389701200111. J Child Neurol. 1997. PMID: 9010797

3

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. Among authors: topaloglu h. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

4

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Among authors: topaloglu h. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

5

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V. Tan E, et al. Among authors: topaloglu h. Neuromuscul Disord. 1997 Mar;7(2):85-9. doi: 10.1016/s0960-8966(96)00421-x. Neuromuscul Disord. 1997. PMID: 9131648

6

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Brockington M, et al. Among authors: topaloglu h. Am J Hum Genet. 2000 Feb;66(2):428-35. doi: 10.1086/302775. Am J Hum Genet. 2000. PMID: 10677302 Free PMC article.

7

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: topaloglu h. 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.

8

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: topaloglu h. Neuropediatrics. 2002 Dec;33(6):314-9. doi: 10.1055/s-2002-37087. Neuropediatrics. 2002. PMID: 12571787

9

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. Neurology. 2003 Mar 25;60(6):988-92. doi: 10.1212/01.wnl.0000052996.14099.dc. Neurology. 2003. PMID: 12654965

10

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: topaloglu h. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799

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

336 results

Search Page

Filters