20182019

Research output per year

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Research Output

2019

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P. & Ceballos-Picot, I., Jun 2019, In : Molecular Genetics and Metabolism. 127, 2, p. 147-157 11 p.

Research output: Contribution to journalArticle

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

Research output: Contribution to journalArticle

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, In : Clin. Genet..

Research output: Contribution to journalArticle

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, In : Clin. Genet..

Research output: Contribution to journalArticle

2018

Mucopolysaccharidoses: early diagnostic signs in infants and children

Galimberti, C., Madeo, A., Di Rocco, M. & Fiumara, A., Nov 16 2018, In : Italian Journal of Pediatrics. 44, 1 p.

Research output: Contribution to journalReview article