Mutations in TMEM230 are rare in autosomal dominant Parkinson’s disease.
- 15/10/2017
The role of glucocerebrosidase in neurodegeneration associated to Gaucher’s Disease and other neurodegenerative diseases
- 14/10/2017
A de novo C19orf12 heterozygous mutation in a patient with MPAN
- 10/10/2017
Linkage to chromosome 2q36 in a large pedigree with Parkinson’s disease
- 01/01/2017
Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s Disease.
- 01/01/2017
Identification of a novel de novo heterozygous C19orf12 frameshift mutation in a young woman with Neurodegeneration with Brain Iron Accumulation (NBIA).
- 01/01/2017
TMEM230 mutations are not frequent in Italian patients with autosomal dominant Parkinson’s disease.
- 01/01/2017
A novel RAB39B gene mutation in an Italian family
- 01/01/2017
SNCA duplication and heterozygous STUB1 mutation in a patient whit spastic ataxia.
- 01/01/2017
Mutations in endocytic recycling protein Rab11FIP3 are associated with ataxia and intellectual disability
- 22/05/2016
Evaluation of mitochondrial dysfunction in fibroblasts and iPSC-derived dopaminergic neurons of patients affected by Multiple System Atrophy
- 01/05/2016
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation
- 22/09/2015
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
- 25/05/2015
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism
- 25/05/2015
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