作者： Katsuhito Matsuki ; Masashi Takemoto…

关键词：Ryanodine receptor type 3 ; Myometrium ; Voltage ; dependent Ca2+ channel ; Large conductance Ca2+ ; activated K+ channels

刊名：Pflügers Archiv - European Journal of Physiology

出版年：2017

作者： Hermia Willemse ; Angelo Theodoratos…

关键词：Human skeletal muscle ; Ryanodine receptor ; ASI splice variants ; Fiber types ; Aging

刊名：Pfl¨¹gers Archiv - European Journal of Physiology

出版年：2016

作者： Ariana Kariminejad ; Siavash Ghaderi-Sohi…

关键词：Lethal multiple pterygium syndrome ; Akinesia ; Arthrogryposis ; Foetal hydrops ; Cystic hygroma ; Ryanodine receptor 1 ; RYR1

刊名：BMC Musculoskeletal Disorders

出版年：2016

作者： Marino DiFranco ; Irina Kramerova ; Julio L. Vergara ; Melissa Jan Spencer

关键词：Calpain ; Skeletal muscle ; C3KO ; Ca2+ release ; Excitation ; contraction coupling ; RyR1 ; DHPR ; Calpainopathy ; Limb girdle muscular dystrophy ; Calpain ; Skeletal muscle ; C3KO ; Ca2+ release ; Excitation ; contraction coupling ; RyR1 ; DHPR ; Calpainopathy

刊名：Skeletal Muscle

出版年：2016

作者： E. Wium ; A. F. Dulhunty ; N. A. Beard

关键词：Triadin ; Ryanodine receptor calcium release channels ; Skeletal muscle ; Calcium signaling

刊名：Pflügers Archiv - European Journal of Physiology

出版年：2016

作者： Roman Schilling ; Rainer H. A. Fink ; Wolfgang B. Fischer

关键词：RyR1 ; Ion channel ; Calcium ; Molecular dynamics simulations ; Ion dynamics

刊名：Journal of Molecular Modeling

出版年：2016

作者： M. Snoeck ; S. Treves ; J. P. Molenaar ; E. J. Kamsteeg…

刊名：Cell Biochemistry and Biophysics

出版年：2016

作者： Guja Astrea ; Antonio Petrucci ; Denise Cassandrini ; Marco Savarese…

关键词：Core myopathies ; MYH7 ; RYR1 ; Muscle MRI ; Next ; generation sequencing

刊名：BMC Medical Genetics

出版年：2016

作者：Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics ; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology ; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics ; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics ; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology ; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics ; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom

关键词：Multiple pterygium syndrome ; Foetal akinesia ; RYR1 mutations ; Myopathy

刊名：Acta Neuropathologica Communications

出版年：2014

作者： Tiago A. Mestre ; Andreea Manole ; Heather MacDonald ; Sheila Riazi…

关键词：Episodic ataxia ; Malignant hyperthermia ; KCNA1

刊名：neurogenetics

出版年：2016