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Paola Mandich

20182019

Research output per year

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Research Output

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journal › Letter

    • Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017

    Prada, V., Massucco, S., Venturi, C., Geroldi, A., Bellone, E., Mandich, P., Minuto, M., Varaldo, E., Mancardi, G., Grandis, M. & Schenone, A., Nov 22 2019, In : Frontiers in Neurology. 10, 1218.

    Research output: Contribution to journal › Article

    Open Access

    • E200k familial creutzfeldt-jakob disease presenting with subacute multiple cranial neuropathy

    Lapucci, C., Romano, N., Boffa, G., Saitta, L., Nobili, F., Mancardi, G. L., Mandich, P. & Grandis, M., Jan 1 2019, In : Open Neurology Journal. 13, 1, p. 72-75 4 p.

    Research output: Contribution to journal › Article

    Open Access

    • Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

    Callegari, I., Gemelli, C., Geroldi, A., Veneri, F., Mandich, P., D’Antonio, M., Pareyson, D., Shy, M. E., Schenone, A., Prada, V. & Grandis, M., Nov 1 2019, In : Journal of Neurology. 266, 11, p. 2629-2645 17 p.

    Research output: Contribution to journal › Article

    • Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

    Tulli, S., Del Bondio, A., Baderna, V., Mazza, D., Codazzi, F., Pierson, T. M., Ambrosi, A., Nolte, D., Goizet, C., Toro, C., Baets, J., Deconinck, T., Dejonghe, P., Mandich, P., Casari, G. & Maltecca, F., Aug 1 2019, In : Journal of Medical Genetics. 56, 8, p. 499-511 13 p.

    Research output: Contribution to journal › Article