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pro vyhledávání: '"Richard Appleton"'
Autor:
Sanjay M. Sisodiya, Mary B. Davis, Richard Appleton, J. Helen Cross, Shelagh J.M. Smith, Rachael Ellis, Joan Liu, Vaneesha Gibbons, Ioannis Liagkouras, Cathy E. Woodward, Sameer M. Zuberi, Susannah T. Bellows, Lillian Martinian, Thomas S. Jacques, Ingrid E. Scheffer, Claudia B. Catarino, Robyn Labrum, Matthias J. Koepp, Jacinta M McMahon, Maria Thom, Simone C. Yendle
Publikováno v:
Brain
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including
Autor:
Susan Treves, Lucy Feng, Adnan Y. Manzur, Enrico Bertini, Susan C. Brown, Francesco Muntoni, Adele D'Amico, Maria Kinali, Clemens R. Müller, Heinz Jungbluth, Haiyan Zhou, Richard Appleton, Martin Brockington, Kate Bushby, Michael Swash, Sonia Messina, Helen Roper, Caroline Sewry, Michael R. Rose, Volker Straub, Ros Quinlivan, Stephanie Robb
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3fb03e29d59c37e202feb275426ae7
https://edoc.unibas.ch/29480/
https://edoc.unibas.ch/29480/