000 02320 a2200637 4500
005 20250518090727.0
264 0 _c20200713
008 202007s 0 0 eng d
022 _a1091-6490
024 7 _a10.1073/pnas.1920008117
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDu, Xiaofei
245 0 0 _aLoss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
_h[electronic resource]
260 _bProceedings of the National Academy of Sciences of the United States of America
_c03 2020
300 _a6023-6034 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
650 0 4 _aAdolescent
650 0 4 _aAnimals
650 0 4 _aAnimals, Newborn
650 0 4 _aCell Line
650 0 4 _aCerebellum
_xcytology
650 0 4 _aChlorzoxazone
_xadministration & dosage
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDependovirus
_xgenetics
650 0 4 _aDisease Models, Animal
650 0 4 _aFemale
650 0 4 _aGene Knockdown Techniques
650 0 4 _aGenetic Vectors
_xgenetics
650 0 4 _aHumans
650 0 4 _aLarge-Conductance Calcium-Activated Potassium Channel alpha Subunits
_xantagonists & inhibitors
650 0 4 _aLoss of Function Mutation
650 0 4 _aMice
650 0 4 _aMitochondria
_xpathology
650 0 4 _aOocytes
650 0 4 _aRats
650 0 4 _aRecombinant Proteins
_xgenetics
650 0 4 _aSpinocerebellar Degenerations
_xdiagnosis
650 0 4 _aTransfection
650 0 4 _aExome Sequencing
650 0 4 _aXenopus
700 1 _aCarvalho-de-Souza, Joao L
700 1 _aWei, Cenfu
700 1 _aCarrasquel-Ursulaez, Willy
700 1 _aLorenzo, Yenisleidy
700 1 _aGonzalez, Naileth
700 1 _aKubota, Tomoya
700 1 _aStaisch, Julia
700 1 _aHain, Timothy
700 1 _aPetrossian, Natalie
700 1 _aXu, Michael
700 1 _aLatorre, Ramon
700 1 _aBezanilla, Francisco
700 1 _aGomez, Christopher M
773 0 _tProceedings of the National Academy of Sciences of the United States of America
_gvol. 117
_gno. 11
_gp. 6023-6034
856 4 0 _uhttps://doi.org/10.1073/pnas.1920008117
_zAvailable from publisher's website
999 _c30705475
_d30705475