检索结果 - Topaloglu, Haluk

Epidemiology of muscular dystrophies in the Mediterranean area 由 TOPALOGLU, HALUK

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Core myopathies – a short review 由 Topaloglu, Haluk

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Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy 由 Eser, Gökçe, Topaloğlu, Haluk

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A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop 由 Karakaya, Mert, Ceyhan-Birsoy, Ozge, Beggs, Alan H., Topaloglu, Haluk

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Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy 由 BULUT, Numan, KARADUMAN, Ayşe, ALEMDAROĞLU-GÜRBÜZ, İpek, YILMAZ, Öznur, TOPALOĞLU, Haluk, ÖZÇAKAR, Levent

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Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy 由 BULUT, Numan, KARADUMAN, Ayşe, ALEMDAROĞLU-GÜRBÜZ, İpek, YILMAZ, Öznur, TOPALOĞLU, Haluk, ÖZÇAKAR, Levent

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Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency 由 Yuksel, Deniz, Oguz, Kader Karli, Azapagası, Ebru, Kesici, Selman, Cavdarli, Busranur, Konuskan, Bahadir, Topaloglu, Haluk

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy 由 Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin

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Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement 由 Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk

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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy 由 Beksac, Mehmet Sinan, Tanacan, Atakan, Aydin Hakli, Duygu, Orgul, Gokcen, Soyak, Burcu, Balci Hayta, Burcu, Dincer, Pervin, Topaloğlu, Haluk

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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy 由 Aksu-Menges, Evrim, Eylem, Cemil Can, Nemutlu, Emirhan, Gizer, Merve, Korkusuz, Petek, Topaloglu, Haluk, Talim, Beril, Balci-Hayta, Burcu

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Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion 由 Emre Onat, Onur, Gulsuner, Suleyman, Bilguvar, Kaya, Nazli Basak, Ayse, Topaloglu, Haluk, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun

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Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy 由 Demir, Ercan, Sabatelli, Patrizia, Allamand, Valérie, Ferreiro, Ana, Moghadaszadeh, Behzad, Makrelouf, Mohamed, Topaloglu, Haluk, Echenne, Bernard, Merlini, Luciano, Guicheney, Pascale

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Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42 由 Brockington, Martin, Sewry, Caroline A., Herrmann, Ralf, Naom, Isam, Dearlove, Andrew, Rhodes, Michael, Topaloglu, Haluk, Dubowitz, Victor, Voit, Thomas, Muntoni, Francesco

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Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4 由 Akinci, Gulcin, Topaloglu, Haluk, Akinci, Baris, Onay, Huseyin, Karadeniz, Cem, Ergul, Yakup, Demir, Tevfik, Ozcan, Emin Evren, Altay, Canan, Atik, Tahir, Garg, Abhimanyu

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

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Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease 由 Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, Thiele, Holger, Stoltenburg-Didinger, Gisela, Aksu, Fuat, Topaloğlu, Haluk, Nürnberg, Peter, Hübner, Christoph, Weschke, Bernhard, Gärtner, Jutta

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Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) 由 Guissart, Claire, Drouot, Nathalie, Oncel, Ibrahim, Leheup, Bruno, Gershoni-Barush, Ruth, Muller, Jean, Ferdinandusse, Sacha, Larrieu, Lise, Anheim, Mathieu, Arslan, Elif Acar, Claustres, Mireille, Tranchant, Christine, Topaloglu, Haluk, Koenig, Michel

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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred 由 Gulsuner, Suleyman, Tekinay, Ayse Begum, Doerschner, Katja, Boyaci, Huseyin, Bilguvar, Kaya, Unal, Hilal, Ors, Aslihan, Onat, O. Emre, Atalar, Ergin, Basak, A. Nazli, Topaloglu, Haluk, Kansu, Tulay, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun

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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease 由 Unal Gulsuner, Hilal, 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.

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