All Relations between Dysarthria and stub1
| Publication | Sentence | Publish Date | Extraction Date | Species |
|---|---|---|---|---|
| Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizz. Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics. 2024-04-16. PMID:38625442. | we here report clinical and genetic results of two apparently unrelated patients carrying the same stub1 variant(c.244g > t;p.asp82tyr) with normal tbp alleles and a clinical picture fully resembling sca48, including cerebellar ataxia, dysarthria and mild cognitive impairment. | 2024-04-16 | 2024-04-18 | Not clear |