Search details
1.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-36718090
2.
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
bioRxiv
; 2023 Mar 15.
Article
in English
| MEDLINE | ID: mdl-36993700
3.
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Neurobiol Aging
; 106: 351.e1-351.e6, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34272080
Results
1 -
3
de 3
1
Next >
>>