Alessio Di Fonzo
Ospedale Maggiore Policlinico
166 papers found
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Mutations in DNA2 cause progressive myopathy with mtDNA instability
UploadMutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism
UploadTwo novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Download from doi.orgUnusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
UploadNovel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Download from link.springer.comGIGYF2 mutations are not a frequent cause of familial Parkinson's disease.
UploadFBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
UploadThe LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
Download from link.springer.comLRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8
Download from www.researchgate.netSPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
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