20182019

Research output per year

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Research Output

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