Detalhe da pesquisa
1.
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
J Hum Genet
; 68(7): 445-453, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864284
2.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
J Inherit Metab Dis
; 43(5): 1002-1013, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187699
3.
Unusual Presentations of Dystrophinopathies in Childhood.
Pediatrics
; 141(Suppl 5): S510-S514, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610182
4.
Complications of Deep Brain Stimulation (DBS) for dystonia in children - The challenges and 10 year experience in a large paediatric cohort.
Eur J Paediatr Neurol
; 21(1): 168-175, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27567277
5.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nat Genet
; 49(2): 223-237, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27992417
6.
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nat Genet
; 49(6): 969, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546572