Search the collection

62 results for Topaloglu,+Haluk

Sort by:

Sort by

Limit results to:

20 per page

62 results for Topaloglu,+Haluk

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Author / Creator:Finkel, Richard S ; Mercuri, Eugenio ; Darras, Basil T ; Connolly, Anne M ; Kuntz, Nancy L ; Kirschner, Janbernd ; Chiriboga, Claudia A ; Saito, Kayoko ; Servais, Laurent ; Tizzano, Eduardo ; Topaloglu, Haluk ; Tulinius, Már ; Montes, Jacqueline ; Glanzman, Allan M ; Bishop, Kathie ; Zhong, Z. John ; Gheuens, Sarah ; Bennett, C. Frank ; Schneider, Eugene ; Farwell, Wildon ; De Vivo, Darryl C
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-11, Vol.377 (18), p.1723-1732
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy
Author / Creator:Aksu-Menges, Evrim ; Eylem, Cemil Can ; Nemutlu, Emirhan ; Gizer, Merve ; Korkusuz, Petek ; Topaloglu, Haluk ; Talim, Beril ; Balci-Hayta, Burcu
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.18161-18161, Article 18161
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
Author / Creator:Voit, Thomas, Prof ; Topaloglu, Haluk, Prof ; Straub, Volker, Prof ; Muntoni, Francesco, Prof ; Deconinck, Nicolas, MD ; Campion, Giles, MD ; De Kimpe, Sjef J, PhD ; Eagle, Michelle, PhD ; Guglieri, Michela, MD ; Hood, Steve, PhD ; Liefaard, Lia, PhD ; Lourbakos, Afrodite, PhD ; Morgan, Allison, BSc ; Nakielny, Joanna, MB ; Quarcoo, Naashika, PhD ; Ricotti, Valeria, MB ; Rolfe, Katie, MSc ; Servais, Laurent, MD ; Wardell, Claire, DPhil ; Wilson, Rosamund, PhD ; Wright, Padraig, MD ; Kraus, John E, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014-10, Vol.13 (10), p.987-996
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Author / Creator:Jae, Lucas T. ; Raaben, Matthijs ; Riemersma, Moniek ; van Beusekom, Ellen ; Blomen, Vincent A. ; Velds, Arno ; Kerkhoven, Ron. M. ; Carette, Jan E. ; Topaloglu, Haluk ; Meinecke, Peter ; Wessels, Marja W. ; Lefeber, Dirk J. ; Whelan, Sean P. ; van Bokhoven, Hans ; Brummelkamp, Thijn R.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2013-04, Vol.340 (6131), p.479-483
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
Author / Creator:Haliloglu, Goknur ; Becker, Kerstin ; Temucin, Cagri ; Talim, Beril ; Küçükşahin, Nalan ; Pergande, Matthias ; Motameny, Susanne ; Nürnberg, Peter ; Aydingoz, Ustun ; Topaloglu, Haluk ; Cirak, Sebahattin
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-04, Vol.62 (4), p.497-501
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Author / Creator:Gulsuner, Hilal Unal ; Gulsuner, Suleyman ; Mercan, Fatma Nazli ; Onat, Onur Emre ; Walsh, Tom ; Shahin, Hashem ; Lee, Ming K. ; Dogu, Okan ; Kansu, Tulay ; Topaloglu, Haluk ; Elibol, Bulent ; Akbostanci, Cenk ; King, Mary-Claire ; Ozcelik, Tayfun ; Tekinay, Ayse B.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-12, Vol.111 (51), p.18285-18290
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy
Author / Creator:Harper, Amy D. ; Topaloglu, Haluk ; Mercuri, Eugenio ; Suslov, Vasiliy ; Wu, Liwen ; Ayanoglu, Cigdem Y. ; Tansey, Michael ; Previtera, Michelle L. ; Crozier, Robert A. ; Magnus, Leslie ; Clemens, Paula R.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.23488-9, Article 23488
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
The genomic and clinical landscape of fetal akinesia
Author / Creator:Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan ; Kreutzer, Mona ; Wang, Haicui ; Daimagüler, Hülya-Sevcan ; Becker, Kerstin ; Karakaya, Mert ; Ehrhardt, Harald ; Elcioglu, Nursel ; Ostojic, Slavica ; Chao, Cho-Ming ; Kawalia, Amit ; Duman, Özgür ; Koy, Anne ; Hahn, Andreas ; Reimann, Jens ; Schoner, Katharina ; Schänzer, Anne ; Westhoff, Jens H. ; Schwaibold, Eva Maria Christina ; Cossee, Mireille ; Imbert-Bouteille, Marion ; von Pein, Harald ; Haliloglu, Göknur ; Topaloglu, Haluk ; Altmüller, Janine ; Nürnberg, Peter ; Thiele, Holger ; Heller, Raoul ; Cirak, Sebahattin
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-03, Vol.22 (3), p.511-523
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Author / Creator:Kurth, Ingo ; Pamminger, Torsten ; Hennings, J Christopher ; Soehendra, Désirée ; Huebner, Antje K ; Rotthier, Annelies ; Baets, Jonathan ; Senderek, Jan ; Topaloglu, Haluk ; Farrell, Sandra A ; Nürnberg, Gudrun ; Nürnberg, Peter ; De Jonghe, Peter ; Gal, Andreas ; Kaether, Christoph ; Timmerman, Vincent ; Hübner, Christian A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-11, Vol.41 (11), p.1179-1181
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
Author / Creator:Ghosh, Shereen G ; Breuss, Martin W ; Schlachetzki, Zinayida ; Chai, Guoliang ; Ross, Danica ; Stanley, Valentina ; Sonmez, F Mujgan ; Topaloglu, Haluk ; Zaki, Maha S ; Hosny, Heba ; Gad, Shaimaa ; Gleeson, Joseph G
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.957-964
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
ATP8A2-related disorders as recessive cerebellar ataxia
Author / Creator:Guissart, Claire ; Harrison, Alexander N. ; Benkirane, Mehdi ; Oncel, Ibrahim ; Arslan, Elif Acar ; Chassevent, Anna K . ; Baraῆano, Kristin ; Larrieu, Lise ; Iascone, Maria ; Tenconi, Romano ; Claustres, Mireille ; Eroglu-Ertugrul, Nesibe ; Calvas, Patrick ; Topaloglu, Haluk ; Molday, Robert S. ; Koenig, Michel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-01, Vol.267 (1), p.203-213
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis
Author / Creator:Sag, Erdal ; Kale, Gulsev ; Haliloglu, Goknur ; Bilginer, Yelda ; Akcoren, Zuhal ; Orhan, Diclehan ; Gucer, Safak ; Topaloglu, Haluk ; Ozen, Seza ; Talim, Beril
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Rheumatology international, 2021-01, Vol.41 (1), p.77-85
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
MAN1B1 deficiency: an unexpected CDG-II
Author / Creator:Rymen, Daisy ; Peanne, Romain ; Millón, María B ; Race, Valérie ; Sturiale, Luisa ; Garozzo, Domenico ; Mills, Philippa ; Clayton, Peter ; Asteggiano, Carla G ; Quelhas, Dulce ; Cansu, Ali ; Martins, Esmeralda ; Nassogne, Marie-Cécile ; Gonçalves-Rocha, Miguel ; Topaloglu, Haluk ; Jaeken, Jaak ; Foulquier, François ; Matthijs, Gert
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013, Vol.9 (12), p.e1003989-e1003989
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Correction: The genomic and clinical landscape of fetal akinesia
Author / Creator:Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan ; Kreutzer, Mona ; Wang, Haicui ; Daimagüler, Hülya-Sevcan ; Becker, Kerstin ; Karakaya, Mert ; Ehrhardt, Harald ; Elcioglu, Nursel ; Ostojic, Slavica ; Chao, Cho-Ming ; Kawalia, Amit ; Duman, Özgür ; Koy, Anne ; Hahn, Andreas ; Reimann, Jens ; Schoner, Katharina ; Schänzer, Anne ; Westhoff, Jens H. ; Schwaibold, Eva Maria Christina ; Cossee, Mireille ; Imbert-Bouteille, Marion ; von Pein, Harald ; Haliloglu, Göknur ; Topaloglu, Haluk ; Altmüller, Janine ; Nürnberg, Peter ; Thiele, Holger ; Heller, Raoul ; Cirak, Sebahattin
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-08, Vol.22 (8), p.1426-1428
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials
Author / Creator:Silwal, Arpana ; Sarkozy, Anna ; Scoto, Mariacristina ; Ridout, Deborah ; Schmidt, Anne ; Laverty, Aidan ; Henriques, Matilde ; D'Argenzio, Luigi ; Main, Marion ; Mein, Rachael ; Manzur, Adnan Y ; Abel, Francois ; Al‐Ghamdi, Fouad ; Genetti, Casie A ; Ardicli, Didem ; Haliloglu, Goknur ; Topaloglu, Haluk ; Beggs, Alan H ; Muntoni, Francesco
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-11, Vol.7 (11), p.2288-2296
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Author / Creator:Bomont, Pascale ; Cavalier, Laurent ; Blondeau, François ; Hamida, Christiane Ben ; Belal, Samir ; Tazir, Meriem ; Demir, Ercan ; Topaloglu, Haluk ; Korinthenberg, Rudolf ; Tüysüz, Beyhan ; Landrieu, Pierre ; Hentati, Fayçal ; Koenig, Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.370-374
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Reply to Tzoulis et al: Genetic and clinical heterogeneity of essential tremor
Author / Creator:Gulsuner, Hilal Unal ; Gulsuner, Suleyman ; Mercan, Fatma Nazli ; Onat, Onur Emre ; Walsh, Tom ; Shahin, Hashem ; Lee, Ming K. ; Dogu, Okan ; Kansu, Tulay ; Topaloglu, Haluk ; Elibol, Bulent ; Akbostanci, Cenk ; King, Mary-Claire ; Ozcelik, Tayfun ; Tekinay, Ayse B.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-05, Vol.112 (18), p.E2269-E2269
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy
Author / Creator:Eser, Gökçe ; Topaloğlu, Haluk
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-07, Vol.13 (7), p.1241
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
The congenital muscular dystrophies
Author / Creator:Topaloğlu, Haluk ; Poorshiri, Bita
Publisher:Oxford: John Wiley & Sons, Inc
Journal title:Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.27-39
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy
Author / Creator:Beksac, M.Sinan ; Yurter, Hayat ; Tanacan, Atakan ; Soyak, Burcu ; Orgul, Gokcen ; Aydin Hakli, Duygu ; Celik, Tolga ; Bora, Gamze ; Cakar, Ayse Nur ; Topaloglu, Haluk
Publisher:South African Medical Association
Journal title:South African journal of obstetrics and gynaecology (1999), 2018-05, Vol.24 (1), p.15-14
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 62 results

Search the collection

Export record to excel

Export this record

Export record to excel

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Export this record

Export record to excel

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Export this record

Export record to excel

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

Export this record

Export record to excel

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Export this record

Export record to excel

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Export this record

Export record to excel

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

Export this record

Export record to excel

Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy

Export this record

Export record to excel

The genomic and clinical landscape of fetal akinesia

Export this record

Export record to excel

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Export this record

Export record to excel

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Export this record

Export record to excel

ATP8A2-related disorders as recessive cerebellar ataxia

Export this record

Export record to excel

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

Export this record

Export record to excel

MAN1B1 deficiency: an unexpected CDG-II

Export this record

Export record to excel

Correction: The genomic and clinical landscape of fetal akinesia

Export this record

Export record to excel

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Export this record

Export record to excel

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

Export this record

Export record to excel

Reply to Tzoulis et al: Genetic and clinical heterogeneity of essential tremor

Export this record

Export record to excel

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

Export this record

Export record to excel

The congenital muscular dystrophies

Export this record

Export record to excel

Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

Refine your search