학술논문
'학술논문'
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1~10
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Academic Journal
Sabrina Ehnert; Stefan Hauser; Holger Hengel; Philip Höflinger; Rebecca Schüle; Tobias Lindig; Jonathan Baets; Tine Deconinck; Peter de Jonghe; Tina Histing; Andreas K. Nüssler; Ludger Schöls; Tim W. Rattay
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Dennis Lal; Patrick May; Eduardo Perez-Palma; Kaitlin E. Samocha; Jack A. Kosmicki; Elise B. Robinson; Rikke S. Møller; Roland Krause; Peter Nürnberg; Sarah Weckhuysen; Peter De Jonghe; Renzo Guerrini; Lisa M. Niestroj; Juliana Du; Carla Marini; EuroEPINOMICS-RES Consortium; James S. Ware; Mitja Kurki; Padhraig Gormley; Sha Tang; Sitao Wu; Saskia Biskup; Annapurna Poduri; Bernd A. Neubauer; Bobby P. C. Koeleman; Katherine L. Helbig; Yvonne G. Weber; Ingo Helbig; Amit R. Majithia; Aarno Palotie; Mark J. Daly
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Academic Journal
Julie van der Zee; Lubina Dillen; Yalda Baradaran-Heravi; Helena Gossye; Cemile Koçoğlu; Ivy Cuyt; Bart Dermaut; Anne Sieben; Jonathan Baets; Peter De Jonghe; Rik Vandenberghe; Peter De Deyn; Patrick Cras; Sebastiaan Engelborghs; Christine Van Broeckhoven
Neurobiology of Disease, Vol 156, Iss , Pp 105421- (2021)
Academic Journal
Danique Beijer; Hong Joo Kim; Lin Guo; Kevin O’Donovan; Inès Mademan; Tine Deconinck; Kristof Van Schil; Charlotte M. Fare; Lauren E. Drake; Alice F. Ford; Andrzej Kochański; Dagmara Kabzińska; Nicolas Dubuisson; Peter Van den Bergh; Nicol C. Voermans; Richard J.L.F. Lemmers; Silvère M. van der Maarel; Devon Bonner; Jacinda B. Sampson; Matthew T. Wheeler; Anahit Mehrabyan; Steven Palmer; Peter De Jonghe; James Shorter; J. Paul Taylor; Jonathan Baets
JCI Insight, Vol 6, Iss 14 (2021)
Academic Journal
Andreas Traschütz; Selina Reich; Astrid D. Adarmes; Mathieu Anheim; Mahmoud Reza Ashrafi; Jonathan Baets; A. Nazli Basak; Enrico Bertini; Bernard Brais; Cynthia Gagnon; Janina Gburek-Augustat; Hasmet A. Hanagasi; Anna Heinzmann; Rita Horvath; Peter de Jonghe; Christoph Kamm; Peter Klivenyi; Thomas Klopstock; Martina Minnerop; Alexander Münchau; Mathilde Renaud; Richard H. Roxburgh; Filippo M. Santorelli; Tommaso Schirinzi; Deborah A. Sival; Dagmar Timmann; Stefan Vielhaber; Michael Wallner; Bart P. van de Warrenburg; Ginevra Zanni; Stephan Zuchner; Thomas Klockgether; Rebecca Schüle; Ludger Schöls; PREPARE Consortium; Matthis Synofzik
Frontiers in Neurology, Vol 12 (2021)
Academic Journal
Aleksandra Siekierska; Hannah Stamberger; Tine Deconinck; Stephanie N. Oprescu; Michèle Partoens; Yifan Zhang; Jo Sourbron; Elias Adriaenssens; Patrick Mullen; Patrick Wiencek; Katia Hardies; Jeong-Soo Lee; Hoi-Khoanh Giong; Felix Distelmaier; Orly Elpeleg; Katherine L. Helbig; Joseph Hersh; Sedat Isikay; Elizabeth Jordan; Ender Karaca; Angela Kecskes; James R. Lupski; Reka Kovacs-Nagy; Patrick May; Vinodh Narayanan; Manuela Pendziwiat; Keri Ramsey; Sampathkumar Rangasamy; Deepali N. Shinde; Ronen Spiegel; Vincent Timmerman; Sarah von Spiczak; Ingo Helbig; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Sarah Weckhuysen; Christopher Francklyn; Anthony Antonellis; Peter de Witte; Peter De Jonghe
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Academic Journal
Lukas J. Schnitzler; Tobias Schreckenbach; Aleksandra Nadaj-Pakleza; Werner Stenzel; Elisabeth J. Rushing; Philip Van Damme; Andreas Ferbert; Susanne Petri; Christian Hartmann; Antje Bornemann; Andreas Meisel; Jens A. Petersen; Thomas Tousseyn; Dietmar R. Thal; Jens Reimann; Peter De Jonghe; Jean-Jacques Martin; Peter Y. Van den Bergh; Jörg B. Schulz; Joachim Weis; Kristl G. Claeys
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Academic Journal
Celia Zazo Seco; Anna Castells-Nobau; Seol-hee Joo; Margit Schraders; Jia Nee Foo; Monique van der Voet; S. Sendhil Velan; Bonnie Nijhof; Jaap Oostrik; Erik de Vrieze; Radoslaw Katana; Atika Mansoor; Martijn Huynen; Radek Szklarczyk; Martin Oti; Lisbeth Tranebjærg; Erwin van Wijk; Jolanda M. Scheffer-de Gooyert; Saadat Siddique; Jonathan Baets; Peter de Jonghe; Syed Ali Raza Kazmi; Suresh Anand Sadananthan; Bart P. van de Warrenburg; Chiea Chuen Khor; Martin C. Göpfert; Raheel Qamar; Annette Schenck; Hannie Kremer; Saima Siddiqi
Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)
Academic Journal
Dennis Lal; Ann-Kathrin Ruppert; Holger Trucks; Herbert Schulz; Carolien G de Kovel; Dorothée Kasteleijn-Nolst Trenité; Anja C M Sonsma; Bobby P Koeleman; Dick Lindhout; Yvonne G Weber; Holger Lerche; Claudia Kapser; Christoph J Schankin; Wolfram S Kunz; Rainer Surges; Christian E Elger; Verena Gaus; Bettina Schmitz; Ingo Helbig; Hiltrud Muhle; Ulrich Stephani; Karl M Klein; Felix Rosenow; Bernd A Neubauer; Eva M Reinthaler; Fritz Zimprich; Martha Feucht; Rikke S Møller; Helle Hjalgrim; Peter De Jonghe; Arvid Suls; Wolfgang Lieb; Andre Franke; Konstantin Strauch; Christian Gieger; Claudia Schurmann; Ulf Schminke; Peter Nürnberg; EPICURE Consortium; Thomas Sander
PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)
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[AR] Peter de Jonghe
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