Publication & Citation Trends
Publications
167 total
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
Cited by 47
Semantic Scholar
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study PDF
Cited by 1,214
OpenAlex
NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association OA
Cited by 14
Semantic Scholar
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD PDF
Cited by 4,430
OpenAlex
Pattern dystrophies of the retinal pigment epithelium.
Cited by 8
Semantic Scholar
A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology
Cited by 29
Semantic Scholar
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?
Cited by 36
Semantic Scholar
Research Topics
Amyotrophic Lateral Sclerosis Research
(72)
Neurogenetic and Muscular Disorders Research
(37)
Neurological diseases and metabolism
(24)
Parkinson's Disease Mechanisms and Treatments
(19)
Prenatal Screening and Diagnostics
(12)
Affiliations
Santen (Japan)
University of Cagliari
King's College London
CTO Hospital
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino