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Paola Mandich

20182020

Research output per year

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Research Output

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta, F., Lamp, M., Geroldi, A., Trevisan, L., Origone, P., Fugazza, G., Fabbri, S., Nesti, C., Rubegni, A., Morani, F., Santorelli, F. M., Bellone, E. & Mandich, P., Jan 1 2020, (Accepted/In press) In : Annals of Human Genetics.

Research output: Contribution to journal › Article

    • SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

    Tasca, G., Lattante, S., Marangi, G., Conte, A., Bernardo, D., Bisogni, G., Mandich, P., Zollino, M., Ragozzino, E., Udd, B. & Sabatelli, M., Jan 1 2020, (Accepted/In press) In : European Journal of Neurology.

    Research output: Contribution to journal › Article

    • 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