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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72CHIO, Adriano; BORGHERO, Giuseppe; PUGLIATTI, Maura et al.Brain. 2012, Vol 135, pp 784-793, issn 0006-8950, 10 p., 3Article

Germline mutations in the von Hippel-Lindau gene in Italian patientsCIOTTI, Paola; GARUTI, Anna; GULLI, Rossella et al.European journal of medical genetics. 2009, Vol 52, Num 5, pp 311-314, issn 1769-7212, 4 p.Article

Gain of Glycosylation: A New Pathomechanism of Myelin Protein Zero MutationsPRADA, Valeria; PASSALACQUA, Mario; SHY, Michael et al.Annals of neurology. 2012, Vol 71, Num 3, pp 427-431, issn 0364-5134, 5 p.Article

Essential tremor is not associated with α-synuclein gene haplotypesPIGULLO, Simona; DI MARIA, Emilio; AJMAR, Franco et al.Movement disorders. 2003, Vol 18, Num 7, pp 823-826, issn 0885-3185, 4 p.Article

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathiesVENKEN, Koen; DI MARIA, Emilio; BELLONE, Emilia et al.Neurogenetics (Oxford. Print). 2002, Vol 4, Num 1, pp 37-41, issn 1364-6745Article

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathiesMANDICH, Paola; FOSSA, Paola; CAPPONI, Simona et al.European journal of human genetics. 2009, Vol 17, Num 9, pp 1129-1134, issn 1018-4813, 6 p.Article

Does parkin play a role in the peripheral nervous system? A family reportABBRUZZESE, Giovanni; PIGULLO, Simona; AJMAR, Franco et al.Movement disorders. 2004, Vol 19, Num 8, pp 978-981, issn 0885-3185, 4 p.Article

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