Detalhe da pesquisa
1.
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
; 36(8): 1959-1964, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949708
2.
The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria.
Parkinsonism Relat Disord
; 89: 167-175, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34391119
3.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism Relat Disord
; 84: 129-134, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33611074
4.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Eur J Med Genet
; 63(4): 103821, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31778857
5.
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.
Parkinsonism Relat Disord
; 83: 110-112, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561776
6.
Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
Eur J Med Genet
; 63(5): 103900, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165262