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Paola Mandich

  • 1 Citations
  • 1 h-Index
20182019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Distal Myopathies Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Filamins Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Motor Neuron Disease Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2018 2019

  • 1 Citations
  • 1 h-Index
  • 6 Article
  • 1 Letter

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

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., Jan 1 2019, In : Journal of Medical Genetics.

Research output: Contribution to journal › Article

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

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

Origone, P., Geroldi, A., Lamp, M., Sanguineri, F., Caponnetto, C., Cabona, C., Gotta, F., Trevisan, L., Bellone, E., Manganelli, F., Devigili, G. & Mandich, P., Jan 1 2019, In : Neurodegenerative Diseases.

Research output: Contribution to journal › Article

Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Mutation
Genes
Motor Neurons

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

The ITALSGEN Consortium & The International ALS Genomics Consortium, Jan 1 2019, In : Annals of Neurology.

Research output: Contribution to journal › Article

Amyotrophic Lateral Sclerosis
Genome-Wide Association Study
Linkage Disequilibrium
Random Allocation
Smoking

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"

Grandis, M., Geroldi, A., Gulli, R., Manganelli, F., Gotta, F., Lamp, M., Origone, P., Trevisan, L., Gemelli, C., Fabbri, S., Schenone, A., Tozza, S., Santoro, L., Bellone, E. & Mandich, P., Oct 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 177.

Research output: Contribution to journal › Article

Prealbumin
Diagnostic Errors
Familial Amyloid Neuropathies
Nervous System Diseases
Early Diagnosis