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Paola Mandich

20182019
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Fingerprint Dive into the research topics where Paola Mandich is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Distal Myopathies Medicine & Life Sciences
Myelin P0 Protein Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Filamins Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences

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Research Output 2018 2019

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

Distal Myopathies
Filamins
Muscular Diseases
Mutation
Leg

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
Sural Nerve
Biopsy
Peripheral Nervous System Diseases
Medical Records
Databases

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
Cranial Nerve Diseases
Creutzfeldt-Jakob Syndrome
Brain
Meningeal Carcinomatosis
Comorbidity

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

Myelin P0 Protein
Neural Conduction
Phenotype
Mutation
Genes

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

Haploinsufficiency
Mitochondrial Dynamics
Fibroblasts
Clustered Regularly Interspaced Short Palindromic Repeats
Spinocerebellar ataxia 28