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- Niccolò E. Mencacci, Ioannis U. Isaias, +42 authors Nicholas W. Wood
- Brain : a journal of neurology
- 2014
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine… (More)
- Stefano Goldwurm, Andrea di Fonzo, +27 authors Vincenzo Bonifati
- Journal of medical genetics
- 2005
BACKGROUND
Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) were recently identified as the cause of PARK8 linked autosomal dominant Parkinson's disease.
OBJECTIVE
To study recurrent… (More)
- Roberto Cilia, Sara Tunesi, +18 authors Stefano Goldwurm
- Annals of neurology
- 2016
OBJECTIVE
The objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the… (More)
- Francesca Sironi, Paola Primignani, +20 authors Stefano Goldwurm
- Parkinsonism & related disorders
- 2008
We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound… (More)
- Gianni Pezzoli, Margherita Canesi, +8 authors Klaus Leonhard Leenders
- Neurology
- 2000
BACKGROUND
Single cases of parkinsonism have been associated with hydrocarbon solvents.
OBJECTIVE
To determine whether exposure to hydrocarbon solvents is related to PD.
METHODS
Cohort study of… (More)
- Silvana Tesei, Angelo Antonini, Margherita Canesi, Anna Lena Zecchinelli, Claudio Mariani, Gianni Pezzoli
- Movement disorders : official journal of the…
- 2000
Depression is a common finding in patients with Parkinson's disease (PD). Traditionally, depression has been treated with tricyclic antidepressants, which are often associated with undesirable side… (More)
- Angelo Antonini, Silvana Tesei, +7 authors Gianni Pezzoli
- Movement disorders : official journal of the…
- 2006
We assessed the effect of 3-month treatment of sertraline (50 mg) or low-dose amitriptyline (25 mg) on depression and quality of life in 31 patients with Parkinson's disease in a prospective… (More)
- Stefano Goldwurm, Michela Zini, +19 authors Gianni Pezzoli
- Parkinsonism & related disorders
- 2006
We analysed the Leucine-Rich Repeat Kinase 2 (LRRK2) gene for the G2019S mutation in 1245 consecutive, unrelated patients with primary degenerative parkinsonism, and collected information on medical… (More)
- Roberta Marongiu, Alessandro Ferraris, +24 authors Enza Maria Valente
- Human mutation
- 2008
Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic… (More)
- Chiara Siri, Roberto Cilia, +5 authors Angelo Antonini
- Journal of Neurology
- 2009
The cognitive status of patients with Parkinson’s disease (PD) who developed pathological gambling (PG) during dopamine replacement therapy has been poorly explored. We compared clinical and… (More)