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1.
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Am J Med Genet A
; 188(4): 1293-1298, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34971077
2.
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Pediatr Neurol
; 146: 16-20, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37392669
3.
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.
Brain Dev
; 43(10): 1029-1032, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34217565
4.
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
Brain Dev
; 42(9): 696-699, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32654954
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