Concepedia

F. L. Conforti

FL

54

Publications

2.2K

Citations

25

H-Index

1996

Active since

Affiliations

National Research Council(Current)

Institute of Neurological Sciences

Magna Graecia University

University of Palermo

University of Bari Aldo Moro

F. L. Conforti is an author at National Research Council specializing in medicine, genetics, and neurology.

ORCID

Top concepts

Publications per year

1996–2023

54

Publications

54

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

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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

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

F. L. Conforti, Rossella Spataro, William Sproviero et al. · Neurology · 2012 · 85 citations · Full text

Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

Janel O. Johnson, Ruth Chia, Danny E. Miller et al. · JAMA Neurology · 2021 · 78 citations · Full text

Functional overlap and divergence between ALS and bvFTD

Francesca Trojsi, Fabrizio Esposito, Manuela De Stefano et al. · Neurobiology of Aging · 2014 · 72 citations

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