Detalhe da pesquisa
1.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34989426
2.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33764426
3.
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Acta Neuropathol
; 139(4): 791-794, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32006098
4.
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
Hum Genome Var
; 10(1): 7, 2023 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36810590
5.
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
Genes (Basel)
; 12(11)2021 11 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34828389