SCIENTIFIC HUB

Follow the evidence.

190.851 articles found

Source record

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet · 2018-01-05

DOI: 10.1007/s00439-017-1862-zPMID: 29305691

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Source record

A novel presenilin 1 mutation (Leu418Trp) associated with spasticity, parkinsonism, and white matter lesion in a dominant Alzheimer's family.

Takahashi Y, Ohta Y, Sasaki R, Tadokoro K, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Haraguchi T, Ikeuchi T, Abe K.

J Neurol Sci · 2018-01-05

DOI: 10.1016/j.jns.2018.01.006PMID: 29571857

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

Records come from scientific sources. Bibliographic counts do not represent completed translations or editorial approvals.

Filters

Filters

Clear
Publication year
Research area
Author
Journal
Publication type
Source & language
Open accessAccess does not establish reuse rights.