TY  - GEN
AU  - Tranebjærg,Lisbeth
AU  - Strenzke,Nicola
AU  - Lindholm,Sture
AU  - Rendtorff,Nanna D
AU  - Poulsen,Hanne
AU  - Khandelia,Himanshu
AU  - Kopec,Wojciech
AU  - Lyngbye,Troels J Brünnich
AU  - Hamel,Christian
AU  - Delettre,Cecile
AU  - Bocquet,Beatrice
AU  - Bille,Michael
AU  - Owen,Hanne H
AU  - Bek,Toke
AU  - Jensen,Hanne
AU  - Østergaard,Karen
AU  - Möller,Claes
AU  - Luxon,Linda
AU  - Carr,Lucinda
AU  - Wilson,Louise
AU  - Rajput,Kaukab
AU  - Sirimanna,Tony
AU  - Harrop-Griffiths,Katherine
AU  - Rahman,Shamima
AU  - Vona,Barbara
AU  - Doll,Julia
AU  - Haaf,Thomas
AU  - Bartsch,Oliver
AU  - Rosewich,Hendrik
AU  - Moser,Tobias
AU  - Bitner-Glindzicz,Maria
TI  - The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
SN  - 1432-1203
PY  - 2019///0326
KW  - Adolescent
KW  - Adult
KW  - Cerebellar Ataxia
KW  - epidemiology
KW  - Child
KW  - Child, Preschool
KW  - Denmark
KW  - Female
KW  - Foot Deformities, Congenital
KW  - Germany
KW  - Hearing Loss, Central
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Molecular Dynamics Simulation
KW  - Mutation, Missense
KW  - genetics
KW  - Optic Atrophy
KW  - Phenotype
KW  - Reflex, Abnormal
KW  - Retrospective Studies
KW  - Sodium-Potassium-Exchanging ATPase
KW  - chemistry
KW  - Sweden
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/s00439-017-1862-z
ER  -