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 |