Detalhe da pesquisa
1.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
2.
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Neurol Clin Pract
; 14(4): e200309, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38808024
3.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405995
4.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol
; 141: 79-86, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791574