1. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. Issue 5 (1st May 2000) Authors: Dinçer, Pervin; Akçören, Zuhal; Demir, Ercan; Richard, Isabelle; Sancak, Özgür; Kale, Gülsev; Özme, Sencan; Karaduman, Ayse; Tan, Ersin; Urtizberea, J Andoni; Beckmann, Jacques S; Topaloglu, Haluk Journal: Journal of medical genetics Issue: Volume 37:Issue 5(2000) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. Issue 3 (March 2017) Authors: Karakaya, Mert; Ceyhan-Birsoy, Ozge; Beggs, Alan H.; Topaloglu, Haluk Journal: Journal of clinical neuromuscular disease Issue: Volume 18:Issue 3(2017:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. (24th October 2017) Authors: Victor, Ronald G.; Sweeney, H. Lee; Finkel, Richard; McDonald, Craig M.; Byrne, Barry; Eagle, Michelle; Goemans, Nathalie; Vandenborne, Krista; Dubrovsky, Alberto L.; Topaloglu, Haluk; Miceli, M. Carrie; Furlong, Pat; Landry, John; Elashoff, Robert; Cox, David Journal: Neurology Issue: Volume 89:Number 17(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Alterations in insulin‐like growth factor system in spinal muscular atrophy. Issue 5 (15th September 2022) Authors: Kaymaz, Ayse Yesbek; Bal, Sevgi Kostel; Bora, Gamze; Talim, Beril; Ozon, Alev; Alikasifoglu, Ayfer; Topaloglu, Haluk; Yurter, Hayat Erdem Journal: Muscle & nerve Issue: Volume 66:Issue 5(2022) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate. Issue 8 (November 2018) Authors: Kucukguven, Arda; Calis, Mert; Topaloglu, Haluk; Ozgur, Figen Journal: Journal of craniofacial surgery Issue: Volume 29:Issue 8(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Issue 10101 (23rd September 2017) Authors: McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu... Journal: Lancet Issue: Volume 390:Issue 10101(2017) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. Issue 6 (12th June 2015) Authors: Haliloglu, Goknur; Talim, Beril; Sel, Cigdem Genc; Topaloglu, Haluk Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical presentation of anti-N-methyl-d-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: A series of 24 cases. (January 2018) Authors: Konuskan, Bahadir; Yildirim, Mirac; Topaloglu, Haluk; Erol, Ilknur; Oztoprak, Ulkuhan; Tan, Huseyin; Gocmen, Rahsan; Anlar, Banu Journal: European journal of paediatric neurology Issue: Volume 22:Number 1(2018:Jan.) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy. (20th October 2015) Authors: Haliloglu, Goknur; Topaloglu, Haluk Journal: Neurology Issue: Volume 85:Number 16(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum. Issue 11 (7th April 2022) Authors: Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Kapetanovic Garcia, Solange; Ardicli, Didem; Topaloglu, Haluk; Hernández-Laín, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Don... Journal: Journal of medical genetics Issue: Volume 59:Issue 11(2022) Page Start: 1069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗