Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

por Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe
Publicado 2022

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

por Marchi, Margherita, Provitera, Vincenzo, Nolano, Maria, Romano, Marcello, Maccora, Simona, D'Amato, Ilaria, Salvi, Erika, Gerrits, Monique, Santoro, Lucio, Lauria, Giuseppe
Publicado 2018

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

por Brunetti, Dario, Dusi, Sabrina, Morbin, Michela, Uggetti, Andrea, Moda, Fabio, D'Amato, Ilaria, Giordano, Carla, d'Amati, Giulia, Cozzi, Anna, Levi, Sonia, Hayflick, Susan, Tiranti, Valeria
Publicado 2012

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy

por Andelic, Mirna, Salvi, Erika, Marcuzzo, Stefania, Marchi, Margherita, Lombardi, Raffaella, Cartelli, Daniele, Cazzato, Daniele, Mehmeti, Elkadia, Gelemanovic, Andrea, Paolini, Matilde, Pardo, Carlotta, D’Amato, Ilaria, Hoeijmakers, Janneke G J, Dib-Hajj, Sulayman, Waxman, Stephen G, Faber, Catharina G, Lauria, Giuseppe
Publicado 2023

TRPA1 rare variants in chronic neuropathic and nociplastic pain patients

por Marchi, Margherita, Salvi, Erika, Andelic, Mirna, Mehmeti, Elkadia, D'Amato, Ilaria, Cazzato, Daniele, Chiappori, Federica, Lombardi, Raffaella, Cartelli, Daniele, Devigili, Grazia, Dalla Bella, Eleonora, Gerrits, Monique, Almomani, Rowida, Malik, Rayaz A., Ślęczkowska, Milena, Mazzeo, Anna, Gentile, Luca, Dib-Hajj, Sulayman, Waxman, Stephen G., Faber, Catharina G., Vecchio, Eleonora, de Tommaso, Marina, Lauria, Giuseppe
Publicado 2023