Concepedia

Paola Mandich

PM

88

Publications

4.1K

Citations

35

H-Index

1988

Active since

Affiliations

University of Genoa(Current)

Ospedale Policlinico San Martino

University of Naples Federico II

Istituti di Ricovero e Cura a Carattere Scientifico

Fondazione IRCCS Istituto Neurologico Carlo Besta

Paola Mandich is an author at University of Genoa specializing in medicine, genetics, and neurology.

Top concepts

MedicineGeneticsNeurologyNeuroscienceNeuropathologyPathologyMolecular GeneticsNeurogeneticsGenetic EpidemiologyClinical Genetics

Publications per year

1988–2023

88

Publications

88

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 457 citations

Myotubularin-related Protein-2, Mendelian Disorder, Genetic Disorder +7

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

Adriano Chiò, Giuseppe Borghero, Gabriella Restagno et al. · Brain · 2012 · 204 citations · Full text

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

Emilio Di Maria, Massimo Tabaton, Tiziana Vigo et al. · Annals of Neurology · 2000 · 197 citations

Neurological Disorder, Corticobasal Degeneration, Genetics +19

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer et al. · Brain · 2014 · 172 citations · Full text

Genetics, Various Genes, Human Polymorphism +16

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

Emilio Di Maria, Massimo Tabaton, Tiziana Vigo et al. · Annals of Neurology · 2000 · 167 citations

Neurological Disorder, Corticobasal Degeneration, Genetics +25

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