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

Contact Us