Evaluation of cervical spinal cord atrophy using a modified SIENA approach

Autor: Ludovico Luchetti, Ferran Prados, Rosa Cortese, Giordano Gentile, Massimilano Calabrese, Marzia Mortilla, Nicola De Stefano, Marco Battaglini

Publikováno v: NeuroImage, Vol 298, Iss , Pp 120775- (2024)

Spinal cord (SC) atrophy obtained from structural magnetic resonance imaging has gained relevance as an indicator of neurodegeneration in various neurological disorders. The common method to assess SC atrophy is by comparing numerical differences of

Externí odkaz: https://doaj.org/article/e6fc799d1f8f4e159e6afdc0f4b8883d

Mycophenolate mofetil as induction and long-term maintenance therapy in childhood cerebral vasculitis: a case series

Autor: Ilaria Pagnini, Marzia Mortilla, Diletta Gentile, Ilaria Maccora, Sarah Abu-Rumeileh, Nicola Limbucci, Gabriele Simonini, Anna Rosati

Publikováno v: Rheumatology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61fc4f521e48f7eb2ac75163343645c0
https://doi.org/10.1093/rheumatology/kead237

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Autor: Flavio Giordano, Viviana Palazzo, Silvia Guarducci, Livia Garavelli, Mirko Scagnet, Angelica Pagliazzi, Marzia Mortilla, Rosangela Artuso, Sabrina Giglio, Daniele di Feo, Orsetta Zuffardi, Giulia Forzano, Gianluca Mattei, Giovanna Traficante, Lucia Tiberi, Betti Giusti, Aldesia Provenzano, Andrea La Barbera, Lorenzo Genitori, Claudio De Filippi, Ada Kura, Nehir Edibe Kurtas, Debora Vergani, Marilena Pantaleo, Sara Bargiacchi

Publikováno v: Human Genetics

Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef7b265e29d98ef94ded04a2e328ebe
https://doi.org/10.1007/s00439-020-02231-6

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.

Autor: Elena Sieni, Carmen Barba, Marzia Mortilla, Sara Savelli, Laura Grisotto, Gianpiero Di Giacomo, Katiuscia Romano, Claudio Fonda, Annibale Biggeri, Renzo Guerrini, Maurizio Aricò

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0131635 (2015)

Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) is a rare, unpredictable consequence that may devastate the quality of life of patients cured from LCH. We prospectively applied a multidisciplinary diagnostic work-up to early identify and fol

Externí odkaz: https://doaj.org/article/1695e223c0e747769191ff1282da0a3a

Sine causa tetraparesis

Autor: Giulio Gualdi, Luisa Lorenzi, Gillian I. Rice, Jessica Galli, Donatella Vairo, Marzia Mortilla, Fabio Facchetti, Marco Cattalini, Francesco Gavazzi, Marika Bianchi, Cristina Cereda, Silvia Giliani, Antonella Meini, Elisa Fazzi, Alessandra Zanola, Micaela De Simone, Raffaele Badolato, Micaela Fredi, Rosalba Monica Ferraro, Nice Carabellese, Laura Andreoli, Marialuisa Valente, Simona Orcesi, Jessica Garau, Angela Tincani

Publikováno v: AGS study group 2018, ' Sine causa tetraparesis : A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis ', Medicine (Philadelphia), vol. 97, no. 52, pp. e13893 . https://doi.org/10.1097/MD.0000000000013893
Medicine

Tetraparesis is usually due to cerebral palsy (CP), inborn errors of metabolism, neurogenetic disorders and spinal cord lesions. However, literature data reported that about 10% of children with tetraparesis show a negative/non-specific neuroradiolog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a97e3c0472f13a457743df87fb78b8
https://doi.org/10.1097/md.0000000000013893