Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
Article
Morin, Matias
, Forst, Anna-Lena, Pérez-Torre, Paula, Jiménez-Escrig, Adriano, Barca-Tierno, Verónica, García-Galloway, Eva, Warth, Richard, Lopez-Sendón Moreno, Jose Luis and Moreno-Pelayo, Miguel Angel
(2020)
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
neurogenetics 21 (2), pp. 135-143.
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| Item type | Article | ||||
| Journal or Publication Title | neurogenetics | ||||
| Publisher | Springer | ||||
| Place of Publication | NEW YORK | ||||
| Volume | 21 | ||||
| Number of Issue or Book Chapter | 2 | ||||
| Page Range | pp. 135-143 | ||||
| Date | 2020 | ||||
| Date of publication | 11 Oct 2021 13:01 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth | ||||
| Identification Number |
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| Keywords | DEAFNESS; TUBULOPATHY; EPILEPSY; SEIZURES; Ataxia; KCNJ10; Kir4; 1; KCNJ16; Kir5; 1; SeSAME; EAST syndrome | ||||
| Dewey Decimal Classification | 500 Science > 570 Life sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 50307 |
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