Detalhe da pesquisa
1.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
2.
Fifteen minute consultation: tics and Tourette syndrome.
Arch Dis Child Educ Pract Ed
; 101(2): 87-94, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26396225
3.
Fifteen minute consultation: tremor in children.
Arch Dis Child Educ Pract Ed
; 99(4): 130-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24477580
4.
Fifteen-minute consultation: The child with acute ataxia.
Arch Dis Child Educ Pract Ed
; 98(6): 217-23, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975413
5.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Neuromuscul Disord
; 33(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522252