Zobrazeno 1 - 10
of 576
pro vyhledávání: '"Ginjaar HB"'
Autor:
Boccanegra, Brigida1 (AUTHOR), Lenti, Roberta1 (AUTHOR), Mantuano, Paola1 (AUTHOR), Conte, Elena1 (AUTHOR), Tulimiero, Lisamaura1 (AUTHOR), Piercy, Richard J.2 (AUTHOR), Cappellari, Ornella1 (AUTHOR) ornella.cappellari@uniba.it, Hildyard, John C. W.2 (AUTHOR) ornella.cappellari@uniba.it, De Luca, Annamaria1 (AUTHOR)
Publikováno v:
PLoS ONE. 11/13/2024, Vol. 19 Issue 11, p1-24. 24p.
Autor:
Poyatos-García, Javier1,2,3 (AUTHOR) javier.poyatos@uv.es, Soblechero-Martín, Patricia4 (AUTHOR), Liquori, Alessandro5,6 (AUTHOR), López-Martínez, Andrea4 (AUTHOR), Maestre, Pilar1 (AUTHOR), González-Romero, Elisa5 (AUTHOR), Vázquez-Manrique, Rafael P.7,8,9 (AUTHOR), Muelas, Nuria1,10,11 (AUTHOR), García-García, Gema7,8,9 (AUTHOR), Ohana, Jessica12 (AUTHOR), Arechavala-Gomeza, Virginia4,13 (AUTHOR), Vílchez, Juan J.1,3,10,11 (AUTHOR) juan.vilchez@uv.es
Publikováno v:
Skeletal Muscle. 10/1/2024, Vol. 14 Issue 1, p1-14. 14p.
Autor:
Bourgeois Yoshioka, Clémence Kiho1,2 (AUTHOR), Takenaka-Ninagawa, Nana1,3 (AUTHOR) nana.takenaka@cira.kyoto-u.ac.jp, Goto, Megumi1 (AUTHOR), Miki, Mayuho1,2 (AUTHOR), Watanabe, Daiki4,5 (AUTHOR), Yamamoto, Masamichi5 (AUTHOR), Aoyama, Tomoki2 (AUTHOR), Sakurai, Hidetoshi1 (AUTHOR) hsakurai@cira.kyoto-u.ac.jp
Publikováno v:
Stem Cell Research & Therapy. 9/19/2024, Vol. 15 Issue 1, p1-24. 24p.
Autor:
van den Bergen, JC, Ginjaar, HB, van Essen, AJ, Pangalila, Robert, de Groot, IKM, Wijkstra, PJ, Suyker, Marianne, Cobben, NAM, Kampelmacher, MJ, Wokke, BHA, Coo, IFM, Fock, JM, Horemans, AMC, van Tol, M, Vroom, E, Rijlaarsdam, MEB, Straathof, CSM, Niks, EH (Erik), Verschuuren, JJGM
Publikováno v:
Journal of Clinical Neuromuscular Disease, 1(1), 99-109. Lippincott Williams & Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::97bea191964301ea3b924c60d9722931
https://pure.eur.nl/en/publications/0ac4965e-4941-4653-91ab-22bf7c1c7f21
https://pure.eur.nl/en/publications/0ac4965e-4941-4653-91ab-22bf7c1c7f21
Autor:
Ozkalayci H; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey. handememis90@gmail.com.; Department of Medical Genetics, Istanbul Training and Research Hospital, Istanbul, 34146, Turkey. handememis90@gmail.com., Bora E; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Cankaya T; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Kocabey M; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Zubari NC; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Yis U; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Giray Bozkaya O; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Turan S; Department of Child And Adolescent Psychiatry, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Pekcanlar Akay A; Department of Child And Adolescent Psychiatry, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Caglayan AO; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey., Ulgenalp A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, 35340, Turkey.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Jul; Vol. 25 (3), pp. 201-213. Date of Electronic Publication: 2024 Jun 08.
Autor:
Iff J; Sarepta Therapeutics, Inc., Cambridge, Massachusetts, USA., Done N; Analysis Group, Inc., Boston, Massachusetts, USA., Tuttle E; Analysis Group, Inc., Boston, Massachusetts, USA., Zhong Y; Analysis Group, Inc., Boston, Massachusetts, USA., Wei F; Analysis Group, Inc., Boston, Massachusetts, USA., Darras BT; Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., McDonald CM; University of California Davis Health System, Sacramento, California, USA., Mercuri E; Paediatric Neurology and Centro Clinico NeMO, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.; Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy., Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.; Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Jul; Vol. 70 (1), pp. 60-70. Date of Electronic Publication: 2024 Mar 14.
Autor:
Stunnenberg BC; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Bas.Stunnenberg@radboudumc.nl., Raaphorst J; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Deenen JCW; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Links TP; Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Wilde AA; Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Medical Centre, Amsterdam, The Netherlands., Verbove DJ; Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Faber CG; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands., van der Wilt GJ; Department of Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Drost G; Department of Neurology and Neurosurgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Ginjaar HB; Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 May; Vol. 28 (5), pp. 402-407. Date of Electronic Publication: 2018 Mar 09.
Autor:
van Dommelen, Paula1 (AUTHOR) Paula.vanDommelen@tno.nl, van Dijk, Oisín2 (AUTHOR), de Wilde, Jeroen A.2 (AUTHOR), Verkerk, Paul H.1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 5/10/2024, Vol. 19 Issue 1, p1-8. 8p.
Autor:
Banerjee, Sukanya1 (AUTHOR), Radotra, Bishan Dass1 (AUTHOR) bishanradotra@gmail.com, Luthra-Guptasarma, Manni2 (AUTHOR), Goyal, Manoj K3 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 4/1/2024, Vol. 19 Issue 1, p1-13. 13p.
Autor:
vanderKooi, AJ, Barth, PG, Busch, HFM, deHaan, R, Ginjaar, HB, vanEssen, AJ, vanHooff, LJMA, Howeler, CJ, Jennekens, FGI, Jongen, P, Oosterhuis, HJGH, Padberg, GWAM, Wintzen, AR, Wokke, JHJ, Bakker, E, vanOmmen, GJB, Bolhuis, PA, deVisser, M
Publikováno v:
Brain, 119, 1471-1480. Oxford University Press
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad anal heterogeneous entity of limb girdle muscular dystrophy (LGMD). An attempt was made to include all known case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::0bb76142750224aa4b3db7502d881cf3
https://research.rug.nl/en/publications/3df82469-fafb-4028-88ec-8d730c9389de
https://research.rug.nl/en/publications/3df82469-fafb-4028-88ec-8d730c9389de