Detalhe da pesquisa
1.
Low disease risk and penetrance in Leber hereditary optic neuropathy.
Am J Hum Genet
; 110(1): 166-169, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565700
2.
The pathogenesis of Parkinson's disease.
Lancet
; 403(10423): 293-304, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245249
3.
International Genetic Testing and Counseling Practices for Parkinson's Disease.
Mov Disord
; 38(8): 1527-1535, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37310233
4.
Genetic Testing in Parkinson's Disease.
Mov Disord
; 38(8): 1384-1396, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365908
5.
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Am J Med Genet A
; 188(7): 2226-2230, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393742
6.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Intern Med J
; 52(1): 110-120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505344
7.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
8.
Antibody-Free Targeted Proteomics Assay for Absolute Measurement of α-Tubulin Acetylation.
Anal Chem
; 92(16): 11204-11212, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32639142
9.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genet Med
; 22(7): 1254-1261, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313153
10.
Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
Mov Disord
; 35(10): 1755-1764, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662532
11.
Genetic mimics of cerebral palsy.
Mov Disord
; 34(5): 625-636, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30913345
12.
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Cerebellum
; 18(1): 137-146, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078120
13.
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Cerebellum
; 18(4): 781-790, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104286
14.
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
Neuropediatrics
; 50(4): 248-252, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064022
15.
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Hum Mutat
; 39(12): 1901-1915, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079973
16.
Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.
Curr Neurol Neurosci Rep
; 18(5): 21, 2018 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29616350
17.
Levodopa-carbidopa intestinal gel: 'dismantling the road blocks of a journey'.
Intern Med J
; 48(4): 472-474, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29623993
18.
Activation of ß-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
J Neurosci
; 36(29): 7693-706, 2016 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27445146
19.
Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders.
Biochim Biophys Acta
; 1863(1): 56-63, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26431992
20.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Hum Mol Genet
; 24(8): 2297-307, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556185