ScholarIQanswers from OpenAlex
Glycogen Storage Diseases and Myoclonus
TopicLeading institutions, researchers & key papers
Glycogen Storage Diseases and Myoclonus is a topic indexed in ScholarIQ from OpenAlex.
What is known about Glycogen Storage Diseases and Myoclonus?
ScholarIQrecord summary
This cluster of papers focuses on the metabolism of glycogen, particularly in the context of myoclonic disorders such as progressive myoclonus epilepsy and glycogen storage diseases. It explores genetic mutations, neurodegeneration, and the role of the glucose-6-phosphatase system in these conditions, shedding light on diagnosis, management, and potential therapeutic aspects.
How many works does Glycogen Storage Diseases and Myoclonus have?
ScholarIQindexed works
Glycogen Storage Diseases and Myoclonus has 110 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.
What is the OpenAlex record for Glycogen Storage Diseases and Myoclonus?
ScholarIQopenalex
The OpenAlex for Glycogen Storage Diseases and Myoclonus is on the source record.
What are the most-cited papers on Glycogen Storage Diseases and Myoclonus?
ScholarIQmost cited works
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Birgit Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki
Clinical picture of EPM1‐Unverricht‐Lundborg disease
Reetta Kälviäinen, Jelena Khyuppenen, Päivi Koskenkorva, Kai Eriksson, Ritva Vanninen, Esa Mervaala
Glucose Regulates in Vivo Glucose-6-phosphatase Gene Expression in the Liver of Diabetic Rats
Duna Massillon, Nir Barzilai, Wei Chen, Meizhu Hu, Luciano Rossetti
Sleep organization and epilepsy.
J. Touchon, M Baldy-Moulinier, Michel Billiard, A Besset, J Cadilhac
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations
Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller
Where is Glycogen Storage Diseases and Myoclonus research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Glycogen Storage Diseases and Myoclonus is open access?
ScholarIQopen access share
60%OPEN ACCESS