Search Results - "Topaloglu, Haluk"

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision by Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

“…Objective To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods Seventeen disease experts, a…”
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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision by Van den Bergh, Peter Y. K., Doorn, Pieter A., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Allen, Jeffrey A., Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Eftimov, Filip, Goedee, H. Stephan, Harbo, Thomas, Kuwabara, Satoshi, Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Sommer, Claudia, Topaloglu, Haluk A.

“…To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Seventeen disease experts, a patient…”
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

“…IMPORTANCE: Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain…”
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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy by Aksu-Menges, Evrim, Eylem, Cemil Can, Nemutlu, Emirhan, Gizer, Merve, Korkusuz, Petek, Topaloglu, Haluk, Talim, Beril, Balci-Hayta, Burcu

“…Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive disorder characterized by enlarged mitochondria located mainly at the periphery of…”
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Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study by 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

“…Summary Background Duchenne muscular dystrophy is caused by dystrophin deficiency and muscle deterioration and preferentially affects boys…”
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Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry by 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.

“…Glycosylated α-dystroglycan (α-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg…”
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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects by Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Küçükşahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nürnberg, Peter, Aydingoz, Ustun, Topaloglu, Haluk, Cirak, Sebahattin

“…The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-18 -year-old boy, from a 2nd degree…”
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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome by Doorn, Pieter A., Van den Bergh, Peter Y. K., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Goedee, H. Stephan, Harbo, Thomas, Jacobs, Bart C., Kusunoki, Susumu, Lehmann, Helmar C., Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Umapathi, Thirugnanam, Topaloglu, Haluk A., Willison, Hugh J.

“…Guillain–Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness and sensory…”
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Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel by Arslan, Elif Acar, Öncel, İbrahim, Ceylan, Ahmet Cevdet, Topçu, Meral, Topaloğlu, Haluk

“…The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them. Eighty-four…”
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Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine by Haliloglu, Goknur, Topaloglu, Haluk

“…Kang et al.1 reviewed congenital muscular dystrophies (CMD), which is a dynamic topic in both pediatric neurology …”
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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease by 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.

“…Significance Essential tremor is one of the most frequent movement disorders of humans, but its causes remain largely unknown. In a six-generation family with…”
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Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy by 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.

“…Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dystrophin gene, causing motor and pulmonary function…”
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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy by Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin

“…Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly…”
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The genomic and clinical landscape of fetal akinesia by 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

“…Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood. In this study, 51…”
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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy by Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter

“…Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we…”
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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey by Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

“…Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to…”
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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia by 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

“…HEAT repeats are 37-47 amino acid flexible tandem repeat structural motifs occurring in a wide variety of eukaryotic proteins with diverse functions. Due to…”
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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene by Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita

“…Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven…”
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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome by Doorn, Pieter A., Van den Bergh, Peter Y. K., Hadden, Robert D. M., Avau, Bert, Vankrunkelsven, Patrik, Attarian, Shahram, Blomkwist‐Markens, Patricia H., Cornblath, David R., Goedee, H. Stephan, Harbo, Thomas, Jacobs, Bart C., Kusunoki, Susumu, Lehmann, Helmar C., Lewis, Richard A., Lunn, Michael P., Nobile‐Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Umapathi, Thirugnanam, Topaloglu, Haluk A., Willison, Hugh J.

“…Guillain–Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness and sensory…”
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