High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, ItalyGALLUS, G. N; CARDAIOLI, E; RUFA, A et al.Clinical genetics. 2012, Vol 82, Num 3, pp 277-282, issn 0009-9163, 6 p.Article

Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findingsDOTTI, M. T; RUFA, A; FEDERICO, A et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 7, pp 696-706, issn 0141-8955Article

Il fenomeno di Marcus Gunn : descrizione di un caso e rassegna della letteratura = Marcus Gunn phenomenon:case report and review of the literatureRUFA, A; PLEWNIA, K; FEDERICO, A et al.Nuova rivista di neurologia. 1997, Vol 7, Num 3, pp 104-107, issn 1122-035XArticle

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiaritiesBIANCHI, S; RUFA, A; INZITARI, D et al.Journal of neurology. 2010, Vol 257, Num 6, pp 1039-1042, issn 0340-5354, 4 p.Article

Pulsating enophthalmos in an adult patient with type 1 neurofibromatosisRUFA, A; ZICARI, E; CERASE, A et al.Neurology. 2006, Vol 67, Num 12, pp 2169-2169, issn 0028-3878, 1 p.Article

Type I sialidosis : A clinical, biochemical and neuroradiological studyPALMERI, S; VILLANOVA, M; GUAZZI, G et al.European neurology. 2000, Vol 43, Num 2, pp 88-94, issn 0014-3022Article

THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA : A NEW MUTATION IN CYP27A1 GENESZLAGO, M; GALLUS, G. N; SCHENONE, A et al.Neurology. 2008, Vol 70, Num 5, pp 402-404, issn 0028-3878, 3 p.Article

Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL)RUFA, A; CERASE, A; MONTI, L et al.Journal of the neurological sciences. 2008, Vol 271, Num 1-2, pp 211-213, issn 0022-510X, 3 p.Article

Recurrent venous thrombosis including cerebral venous sinus thrombosis in a patient taking sildenafil for erectile dysfunctionRUFA, A; CERASE, A; MONTI, L et al.Journal of the neurological sciences. 2007, Vol 260, Num 1-2, pp 293-295, issn 0022-510X, 3 p.Article

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiencyBATTISTI, C; LOUDIANOS, G; RUFA, A et al.American journal of medical genetics. 1999, Vol 85, Num 2, pp 175-178, issn 0148-7299Article