Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awab041.
Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek
