Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hacer Durmus Tekce"'
Autor:
Sevim Erdem Ozdamar, Ayse Filiz Koc, Hacer Durmus Tekce, Dilcan Kotan, Ahmet Hakan Ekmekci, Ihsan Sukru Sengun, Ayse Nur Yuceyar, Kayihan Uluc
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe diseas
Externí odkaz:
https://doaj.org/article/7a4a0315371b4467a065b8add9f7fa11
Autor:
Stella Mazurová, John W. Day, Mazen M. Dimachkie, Sónia Tizon, Anna Kostera-Pruszczyk, Tahseen Mozaffar, Joel Charrow, Chafic Karam, Ricardo Maré, Jean-Baptiste Noury, Dewi Guellec, Jorge Alonso-Pérez, Acary Souza Bulle Oliveira, Loren D M Pena, Tianyue Zhou, Sergey Illarioshkin, Nathan Thibault, Marcelo Rugiero, Can Ebru Bekircan-Kurt, Lauren Chase, Monica Sciacco, Mamatha Pasnoor, Jenny Billy, Mark Tarnopolsky, Fabien Zagnoli, Marie Wencel, Sevim Erdem-Ozdamar, Erin Hatcher, Madoka Mori, Céline Tard, Nicolas Mavroudakis, Emmanuelle Salort-Campana, Antonio Toscano, Shafeeq Ladha, Angela Genge, Ans T. van der Ploeg, Michela Guglieri, Judith Johnson, Fanny Duval, Loïc Danjoux, Christopher Hug, Robert D. Henderson, Robert Neel, Luca Solera, Aleksandra Nadaj-Pakleza, Silvia Boschi, Nizar Chahin, Maurizio Gualtiero Moggio, Peter Young, Priya S. Kishnani, Yin-Hsiu Chien, Alexandra Kautzky-Willer, Claire Questienne, Francoise Bouhour, Gabriela A Niizawa, Ekaterina Fedotova, Tiziana Enrica Mongini, Harmke A. van Kooten, Vera Malinova, Sina Helms, Shahram Attarian, Patrick Deegan, Guilhem Sole, Hamilton Cirne, Ludwig Gutmann, Kenneth I. Berger, Laura Carrera Garcia, N A M E van der Beek, Stephanie Dearmey, Suzara Souto Lopes, Anna Potulska-Chromik, Joao Lindolfo Borges, Yesim Parman, Michaela Riedl, Sergey A. Klyushnikov, Olivier Huynh-Ba, Gauthier Remiche, Paula R. Clemens, Andrea Swenson, Stephan Wenninger, Miriam Hufgard-Leitner, Eugen Mengel, Kristina An Haack, Eve Gandolfo, David Reyes-Leiva, Jean-Baptiste Davion, Chester Whitley, Young Chul Choi, Patricia Altemus, Maria Judit Molnar, Perry B. Shieh, Matthias Vorgerd, Julia B Hennermann, Cheryl Smith, Volker Straub, Lauren Noll, Pascal Laforet, Andres Nascimento Osorio, Clarisa Maxit, Anne-Catherine Aubé-Nathier, Ozlem Goker-Alpan, Olimpia Musumeci, Louisa Müller-Miny, Tarekegn Hiwot, Jacqui Langton, Christopher Nance, Daniel Natera-de Benito, Jeffrey Statland, Nicola Longo, Vivien Pautot, Zoltan Grosz, Thomas Stulnig, Matthias Boentert, Anne-Katrin Guettsches, Chong Yew Tan, Erik Ortega, Derralynn Hughes, Hacer Durmus Tekce, Mark Roberts, Lenka Linková, Amel Karaa, Hani Kushlaf, Anthony Behin, Margarida Ramos Lopes, Jordi Diaz-Manera, Alessia Pugliese, Paulo Victor Sgobbi Souza, Carrie Bailey, Jennifer B Avelar, Hirofumi Komaki, Frederic Taithe, Benedikt Schoser, Sabine Specht, Kathryn E Brown, Gerson Carvalho
Publikováno v:
The Lancet Neurology, 20(12), 1012-1026. Lancet Publishing Group
Summary Background Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070f1f6f1e025674e4ced58aa9218fbf
http://hdl.handle.net/11570/3218654
http://hdl.handle.net/11570/3218654
Autor:
Türkan Acar, Esra Acıman Demirel, Nazire Afşar, Aylin Akçalı, Gülşen Akman Demir, Aybala Neslihan Alagöz, Tuğçe Angın Mengi, Ethem Murat Arsava, Semih Ayta, Nerses Bebek, Başar Bilgiç, Cavit Boz, Arman Çakar, Neşe Çelebisoy, Mehmet Uğur Çevik, Firuze Delen, Hacer Durmuş Tekçe, Hakan Ekmekçi, Ayşe Deniz Elmalı, Oğuz Osman Erdinç, Füsun Ferda Erdoğan, Fettah Eren, Ufuk Ergün, Yeşim Gülşen Parman, Haluk Gümüş, Demet İlhan Algın, Rana Karabudak, Ömer Karadaş, Özlem Kayım Yıldız, Emine Rabia Koç, Demet Özbabalık Adapınar, Atilla Özcan Özdemir, Şerefnur Öztürk, Ayşe Sağduyu Kocaman, Şevki Şahin, Esen Saka Topçuoğlu, Özden Şener, F. İrsel Tezer, Rıfat Erdem Toğrol, Ayşe Bora Tokçaer, Mehmet Akif Topçuoğlu, Neşe Tuncer, Ali Ulvi Uca, Kayıhan Uluç, Erdem Yaka, Mehmet İlker Yön
Publikováno v:
Türk Nöroloji Dergisi, Vol 26, Iss 2, Pp 58-108 (2020)
Externí odkaz:
https://doaj.org/article/9e059a592187495c841789571449a527
Publikováno v:
Türk Nöroloji Dergisi, Vol 23, Iss 3, Pp 105-111 (2017)
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function of TTR, which dissociates from its native tetramer form to a monomer form and aggregates in several tissues and organs. Mutations in the TTR gene lead
Externí odkaz:
https://doaj.org/article/d398437b068b4814b5b127d9d7efaa90
Publikováno v:
Türk Nöroloji Dergisi, Vol 22, Iss 3, Pp 143-144 (2016)
Externí odkaz:
https://doaj.org/article/410a1a30f6244f3b881aed8b83f87e61