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Research Output 2018 2019

  • 3 Citations
  • 1 h-Index
  • 8 Article
  • 1 Letter
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 journalLetter

Distal Myopathies
Filamins
Muscular Diseases
Mutation
Leg

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 journalArticle

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., Jan 1 2019, In : Journal of Neurology.

Research output: Contribution to journalArticle

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

Research output: Contribution to journalArticle

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 journalArticle

Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Mutation
Genes
Motor Neurons
2 Citations (Scopus)

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 journalArticle

Amyotrophic Lateral Sclerosis
Genome-Wide Association Study
Linkage Disequilibrium
Random Allocation
Smoking
2018

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 journalArticle

Prealbumin
Diagnostic Errors
Familial Amyloid Neuropathies
Nervous System Diseases
Early Diagnosis

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Bruno, I., Cereda, C., Dato, C., Di Iorio, G., Donadio, V., Felicori, M., Fini, N., Fiorillo, C., Gallone, S. & 33 others, Gemignani, F., Gigli, G. L., Graziano, C., Guerrini, R., Gurrieri, F., Kariminejad, A., Lieto, M., Marques LourenḈo, C., Malandrini, A., Mandich, P., Marcotulli, C., Mari, F., Massacesi, L., Melone, M. A. B., Mignarri, A., Milone, R., Musumeci, O., Pegoraro, E., Perna, A., Petrucci, A., Pini, A., Pochiero, F., Pons, M. R., Ricca, I., Rossi, S., Seri, M., Stanzial, F., Tinelli, F., Toscano, A., Valente, M., Federico, A., Rubegni, A. & Santorelli, F. M., 2018, In : Frontiers in Neurology. 9, p. 981

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Cross-Sectional Studies
Genes
Pyramidal Tracts
Mutation
1 Citation (Scopus)

Twenty years of molecular analyses in amyotrophic lateral sclerosis: Genetic landscape of Italian patients

Lamp, M., Origone, P., Geroldi, A., Verdiani, S., Gotta, F., Caponnetto, C., Devigili, G., Verriello, L., Scialò, C., Cabona, C., Canosa, A., Vanni, I., Bellone, E., Eleopra, R. & Mandich, P., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Mutation
Genes
Neurodegenerative Diseases
Counseling