Publication & Citation Trends
Publications
59 total
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
Cited by 95
OpenAlex
L'épilepsie myoclonique progressive de type Unverricht-Lundborg sur l'île de la Réunion
Cited by 2
Semantic Scholar
Physiopathologie, épidémiologie et génétique de la SEP
Cited by 1
Semantic Scholar
Mutations du gne hmochromatose dans l'anmie sidroblastique idiopathique acquise (ASIA)
Cited by 0
Semantic Scholar
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations
Cited by 117
OpenAlex
Significance of interleukin-1beta and interleukin-1 receptor antagonist genetic polymorphism in inflammatory bowel diseases.
Cited by 88
OpenAlex
Haemochromatosis and HLA–H
Cited by 350
OpenAlex
Research Topics
Iron Metabolism and Disorders
(30)
Multiple Sclerosis Research Studies
(11)
Hemoglobinopathies and Related Disorders
(11)
T-cell and B-cell Immunology
(6)
Peripheral Neuropathies and Disorders
(6)
Affiliations
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”
Inserm
Universidade do Porto
QIMR Berghofer Medical Research Institute
In-Q-Tel