Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
Christian Beetz(Jena University Hospital), Michaela Auer‐Grumbach(Medical University of Graz), Mary M. Reilly(University College London), Thomas R. Pieber(Joanneum Research), Nicole Hertel(Jena University Hospital), Elisabeth Graf(Helmholtz Zentrum München), Silke Keiner(Jena University Hospital), Slave Trajanoski(Medical University of Graz), Thomas Wieland(Eppendorf (Germany)), Carina Fischer(Karolinska Institutet), Maria Schabhüttl(Medical University of Vienna), Rita-Eva Varga(Jena University Hospital), Vincent Timmerman(University of Antwerp), Tim M. Strom(Ludwig-Maximilians-Universität München), Ingo Kurth(Koç University)
Cited by 87
Related Papers
Cardioprotection and lifespan extension by the natural polyamine spermidine
|Nature Medicine|2016|1.1k
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
|Nature Neuroscience|2015|782