학술논문
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'학술논문'
에서 검색결과 639건 | 목록
1~20
Academic Journal
Ilaria Quartesan; Stefano Facchini; Arianna Manini; Ricardo Parolin Schnekenberg; Chiara Pisciotta; Stefania Magri; Sara Negri; Carlo Gaetano; Adriana Rebelo; Jacquelyn Schatzman Raposo; Radim Mazanec; Riccardo Curro; Natalia Dominik; Stephanie Efthymiou; Matilde Laura; Tiffany Grider; Shawna ME Feely; Vera Fridman; Alessandro Bertini; Gustavo M Alves; Lucia Ferullo; Arianna Ghia; Claudio Caccia; Francesca Balistreri; Paola Saveri; Luca Crivellari; Isabella Moroni; Federica R Danti; Tiziana Mongini; Franco Taroni; Michaela Auer-Grumbach; Enrico Bugiardini; James N Sleigh; Arianna Tucci; Henry Houlden; Petra Lassuthova; Anna Basile; Elisa Giorgio; Michael E Shy; Stephan Zuchner; Mary M Reilly; Davide Pareyson; Andrea Cortese
Academic Journal
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Solve-RD consortium; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Annette Lischka; Katja Eggermann; Christopher J. Record; Maike F. Dohrn; Petra Laššuthová; Florian Kraft; Matthias Begemann; Daniela Dey; Thomas Eggermann; Danique Beijer; Jana Šoukalová; Matilde Laurá; Alexander M. Rossor; Radim Mazanec; Jonas Van Lent; Pedro José Tomaselli; Martin Ungelenk; Karlien Debus; Shawna Feely; Dieter Gläser; Sujatha Jagadeesh; Madelena Martin; Geeta Govindaraj; Pratibha Singhi; Revanth Baineni; Niranjan Biswal; Marisol Ibarra‐Ramírez; M Bonduelle; Burkhard Gess; Juan Romero Sánchez; Renu Suthar; Vrajesh Udani; Atchayaram Nalini; Gopikrishnan Unnikrishnan; Wilson Marques; Sandra Mercier; Vincent Procaccio; Céline Bris; Beena Suresh; Vaishnavi Reddy; Mariola Skorupinska; Nathalie Bonello‐Palot; Fanny Mochel; Georg Dahl; K Sasidharan; Fiji Madona Devassikutty; Sheela Nampoothiri; Maria Juliana R. Doriqui; Wolfgang Müller‐Felber; Katharina Vill; Tobias B. Haack; Andreas Dufke; Michael C. Ost; Rolf Stucka; Saima Siddiqi; Noor Ullah; Stephanie Spranger; Deborah Chiabrando; Behiye Bolgül; Yeşim Parman; Davide Pareyson; Angelika Lampert; Jörg B. Schulz; John N. Wood; James J. Cox; Michaela Auer‐Grumbach; Vincent Timmerman; Jonathan De Winter; Andreas C. Themistocleous; Michael E. Shy; David Bennett; Jonathan Baets; Christian A. Hübner; Enrico Leipold; Stephan Züchner; Miriam Elbracht; Arman Çakar; Jan Senderek; Thorsten Hornemann; C. Geoffrey Woods; Mary M. Reilly; Ingo Kurth
Brain
Brain 146(12), 4880-4890 (2023). doi:10.1093/brain/awad328
BRAIN
Brain 146(12), 4880-4890 (2023). doi:10.1093/brain/awad328
BRAIN
Academic Journal
Chen, Y-C; Auer-Grumbach, M; Matsukawa, S; Zitzelsberger, M; Themistocleous, AC; Strom, TM; Samara, C; Moore, AW; Cho, LT-Y; Young, GT
NATURE GENETICS. 47(7):803-808
Academic Journal
Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; null, null; Rodriguez, Aixa; Bacha, Alexa; Kosikowski, Ashley; Wood, Beth; McCray, Brett; Blume, Brianna; Siskind, Carly; Sumner, Charlotte; Calabrese, Daniela; Walk, David; Vujovic, Dragan; Park, Eun; Muntoni, Francesco; Donlevy, Gabrielle; Acsadi, Gyula; Day, John; Burns, Joshua; Li, Jun; Krajewski, Karen; Eichinger, Kate; Cornett, Kayla; Mullen, Krista; Laura, Perez Quiros; Gutmann, Laurie; Barrett, Maria; Saporta, Mario; Skorupinska, Mariola; Grant, Natalie; Bray, Paula; Seyedsadjadi, Reza; Zuccarino, Riccardo; Finkel, Richard; Lewis, Richard; Shy, Rosemary R.; Yum, Sabrina; Hilbert, Sarah; Thomas, Simone; Behrens-Spraggins, Steffen; Jones, Tara; Lloyd, Thomas; Grider, Tiffany; Estilow, Tim; Fridman, Vera; Isasi, Rosario; Khan, Alaa; Laurà, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schüle, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan
Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4
Academic Journal
Wiessner, Manuela; Maroofian, Reza; Zhu, Changlian; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Ni, Meng-Yuan; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Pedroni, Andrea; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Müller, Juliane S; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Genomics England Research Consortium, PREPARE network; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Stucka, Rolf; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Beetz, Christian; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J H; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Efthymiou, Stephanie; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Santorelli, Filippo M; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Alfares, Ahmed A; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Academic Journal
M. Schilling; M. Auer-Grumbach; R. Baron; F. Birklein; F. Escolano-Lozano; M. F. Dohrn; C. Geber; N. Grether; T. Hagenacker; K. Hahn; H. C. Lehmann; J. Sachau; J. Schmidt; W. Schulte-Mattler; C. Sommer; M. Weiler; E. Hund
DGNeurologie. 3:369-383
Academic Journal
Thomas H. Brannagan; Michaela Auer-Grumbach; John L. Berk; Chiara Briani; Vera Bril; Teresa Coelho; Thibaud Damy; Angela Dispenzieri; Brian M. Drachman; Nowell Fine; Hanna K. Gaggin; Morie Gertz; Julian D. Gillmore; Esther Gonzalez; Mazen Hanna; David R. Hurwitz; Sami L. Khella; Mathew S. Maurer; Jose Nativi-Nicolau; Kemi Olugemo; Luis F. Quintana; Andrew M. Rosen; Hartmut H. Schmidt; Jacqueline Shehata; Marcia Waddington-Cruz; Carol Whelan; Frederick L. Ruberg
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Academic Journal
D. Safka Brozkova; T. Stojkovic; J. Haberlová; R. Mazanec; R. Windhager; P. Fernandes Rosenegger; S. Hacker; S. Züchner; A. Kochański; S. Leonard‐Louis; B. Francou; P. Latour; J. Senderek; P. Seeman; M. Auer‐Grumbach
European Journal of Neurology. 27:2568-2574
Academic Journal
Helle Høyer; Hilde T Hilmarsen; Raute Sunder-Plassmann; Geir J Braathen; Peter M Andersen; Christian Beetz; Sandra Hacker; Øystein L Holla; Ingo Kurth; Wolfgang N Löscher; Simone B C F Reiter; Sabine Rudnik-Schöneborn; Linda Strand; Reinhard Windhager; Martina Witsch-Baumgartner; Jan Senderek; Michaela Auer-Grumbach
J Med Genet
Journal of medical genetics 59(10), 1024-1026 (2022). doi:10.1136/jmedgenet-2021-108281
Journal of medical genetics 59(10), 1024-1026 (2022). doi:10.1136/jmedgenet-2021-108281
Academic Journal
Lischka, Annette; Lassuthova, Petra; Çakar, Arman; Record, Christopher J.; Van Lent, Jonas; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Hübner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M.; Kurth, Ingo
Nature Reviews Disease Primers. 8(1)
Academic Journal
Wu, Jingxia ; Ma, Sicong ; Sandhoff, Roger ; Ming, Yanan ; Hotz-Wagenblatt, Agnes ; Timmerman, Vincent ; Bonello-Palot, Nathalie ; Schlotter-Weigel, Beate ; Auer-Grumbach, Michaela ; Seeman, Pavel ; Löscher, Wolfgang N. ; Reindl, Markus ; Weiss, Florian ; Mah, Eric ; Weisshaar, Nina ; Madi, Alaa ; Mohr, Kerstin ; Schlimbach, Tilo ; Velasco Cárdenas, Rubí M.-H. ; Koeppel, Jonas ; Grünschläger, Florian ; Müller, Lisann ; Baumeister, Maren ; Brügger, Britta ; Schmitt, Michael ; Wabnitz, Guido ; Samstag, Yvonne ; Cui, Guoliang
In Immunity 21 May 2019 50(5):1218-1231
Academic Journal
Cortese A.; Zhu Y.; Rebelo A. P.; Negri S.; Courel S.; Abreu L.; Bacon C. J.; Bai Y.; Bis-Brewer D. M.; Bugiardini E.; Buglo E.; Danzi M. C.; Feely S. M. E.; Athanasiou-Fragkouli A.; Haridy N. A.; Rodriguez A.; Bacha A.; Kosikowski A.; Wood B.; McCray B.; Blume B.; Siskind C.; Sumner C.; Calabrese D.; Walk D.; Vujovic D.; Park E.; Muntoni F.; Donlevy G.; Acsadi G.; Day J.; Burns J.; Li J.; Krajewski K.; Eichinger K.; Cornett K.; Mullen K.; Laura P. Q.; Gutmann L.; Barrett M.; Saporta M.; Skorupinska M.; Grant N.; Bray P.; Seyedsadjadi R.; Zuccarino R.; Finkel R.; Lewis R.; Yum S.; Hilbert S.; Thomas S.; Behrens-Spraggins S.; Jones T.; Lloyd T.; Grider T.; Estilow T.; Fridman V.; Isasi R.; Khan A.; Laura M.; Magri S.; Pipis M.; Pisciotta C.; Powell E.; Rossor A. M.; Saveri P.; Sowden J. E.; Tozza S.; Vandrovcova J.; Dallman J.; Grignani E.; Marchioni E.; Scherer S. S.; Tang B.; Lin Z.; Al-Ajmi A.; Schule R.; Synofzik M.; Maisonobe T.; Stojkovic T.; Auer-Grumbach M.; Abdelhamed M. A.; Hamed S. A.; Zhang R.; Manganelli F.; Santoro L.; Taroni F.; Pareyson D.; Houlden H.; Herrmann D. N.; Reilly M. M.; Shy M. E.; Zhai R. G.; Zuchner S.
Academic Journal
Auer-Grumbach, Michaela ; Toegel, Stefan ; Schabhüttl, Maria ; Weinmann, Daniela ; Chiari, Catharina ; Bennett, David L.H. ; Beetz, Christian ; Klein, Dennis ; Andersen, Peter M. ; Böhme, Ilka ; Fink-Puches, Regina ; Gonzalez, Michael ; Harms, Matthew B. ; Motley, William ; Reilly, Mary M. ; Renner, Wilfried ; Rudnik-Schöneborn, Sabine ; Schlotter-Weigel, Beate ; Themistocleous, Andreas C. ; Weishaupt, Jochen H. ; Ludolph, Albert C. ; Wieland, Thomas ; Tao, Feifei ; Abreu, Lisa ; Windhager, Reinhard ; Zitzelsberger, Manuela ; Strom, Tim M. ; Walther, Thomas ; Scherer, Steven S. ; Züchner, Stephan ; Martini, Rudolf ; Senderek, Jan
In The American Journal of Human Genetics 1 September 2016 99(3):607-623
Academic Journal
Andrea Cortese; Maike Dohrn; Yi Zhu; Adriana Rebelo; Jingyu Wang; Matt C. Danzi; Shawna M.E. Feely; Tanya Stojkovic; Michaela Auer-Grumbach; Sherifa A. Hamed; Ruxu Zhang; Fiore Manganelli; Franco Taroni; Davide Pareyson; Henry Houlden; David N. Herrmann; Mary M. Reilly; Michael Shy; Stephan Zuchner
Neurology. 96
Academic Journal
Rebelo, Adriana P. ; Abrams, Alexander J. ; Cottenie, Ellen ; Horga, Alejandro ; Gonzalez, Michael ; Bis, Dana M. ; Sanchez-Mejias, Avencia ; Pinto, Milena ; Buglo, Elena ; Markel, Kasey ; Prince, Jeffrey ; Laura, Matilde ; Houlden, Henry ; Blake, Julian ; Woodward, Cathy ; Sweeney, Mary G. ; Holton, Janice L. ; Hanna, Michael ; Dallman, Julia E. ; Auer-Grumbach, Michaela ; Reilly, Mary M. ; Zuchner, Stephan
In The American Journal of Human Genetics 7 April 2016 98(4):597-614
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
Academic Journal
Auer-Grumbach M; Bode H; Pieber TR; Schabhüttl M; Fischer D; Seidl R; Graf E; Wieland T; Schuh R; Vacariu G; Grill F; Timmerman V; Strom TM; Horneman
Eur J Med Genet
European Journal of Medical Genetics
European Journal of Medical Genetics
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Academic Journal
Evila A; Palmio J; Vihola A; Savarese M; Tasca G; Penttila S; Lehtinen S; Jonson PH; De Bleecker J; Rainer P; Auer-Grumbach M; Pouget J; Salort-Campana E; Vilchez JJ; Muelas N; Olive M; Hackman P; Udd B
MOLECULAR NEUROBIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
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[Author] Auer-Grumbach M
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