Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Authors: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)

Subject Terms: Cerebrotendinous xanthomatosis, CTX, Delphi, Diagnosis, Treatment, Prognosis, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/56eced4666ed4a9294999a269eca7839

Longitudinal changes in MoCA performances in patients with mild cognitive impairment and small vessel disease. Results from the VMCI-Tuscany Study

Authors: Emilia Salvadori, Anna Poggesi, Giovanni Pracucci, Alberto Chiti, Laura Ciolli, Alessandra Del Bene, Ilaria Di Donato, Sandro Marini, Serena Nannucci, Giovanni Orlandi, Marco Pasi, Francesca Pescini, Raffaella Valenti, Antonio Federico, Maria Teresa Dotti, Ubaldo Bonuccelli, Domenico Inzitari, Leonardo Pantoni

Source: Cerebral Circulation - Cognition and Behavior, Vol 2, Iss , Pp 100008- (2021)

Subject Terms: Montreal Cognitive Assessment, Cerebral small vessel disease, Mild cognitive impairment, Major neurocognitive disorder, Specialties of internal medicine, RC581-951, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666245021000052; https://doaj.org/toc/2666-2450

Access URL: https://doaj.org/article/d6f88d7ebdcb48f990627f29700f5dda

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Authors: Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia

Source: Frontiers in Pediatrics, Vol 8 (2020)

Subject Terms: inborn errors of bile acid metabolism, cerebrotendinous xanthomatosis, neonatal cholestasis, chenodeoxycholic acid, CYP27A1 gene, cholestanol, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00382/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/2c64eb125fba4cfd8818d3f403fd2446

Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients

Authors: Emilia Salvadori, Anna Poggesi, Giovanni Pracucci, Alberto Chiti, Laura Ciolli, Mirco Cosottini, Alessandra Del Bene, Nicola De Stefano, Stefano Diciotti, Ilaria Di Donato, Andrea Ginestroni, Sandro Marini, Mario Mascalchi, Serena Nannucci, Giovanni Orlandi, Marco Pasi, Francesca Pescini, Raffaella Valenti, Antonio Federico, Maria Teresa Dotti, Ubaldo Bonuccelli, Domenico Inzitari, Leonardo Pantoni

Source: Dementia and Geriatric Cognitive Disorders Extra, Vol 8, Iss 1, Pp 104-116 (2018)

Subject Terms: Mild cognitive impairment, Dementia, Cerebrovascular diseases, Neuropsychology, Small vessel disease, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/487130; https://doaj.org/toc/1664-5464

Access URL: https://doaj.org/article/46a67a5e42ca426cb575205b7c52caca

Relevance of brain lesion location for cognition in vascular mild cognitive impairment

Authors: Antonio Giorgio, Ilaria Di Donato, Alessandro De Leucio, Jian Zhang, Emilia Salvadori, Anna Poggesi, Stefano Diciotti, Mirco Cosottini, Stefano Ciulli, Domenico Inzitari, Leonardo Pantoni, Mario Mascalchi, Antonio Federico, Maria Teresa Dotti, Nicola De Stefano

Source: NeuroImage: Clinical, Vol 22, Iss , Pp - (2019)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213158219301391; https://doaj.org/toc/2213-1582

Access URL: https://doaj.org/article/d325ceebd1ed4e1faaf8521352176b25

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

Authors: Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: hereditary spastic paraplegia, next generation sequencing, neurogenetics, diagnostic yield, variants of unknown significance, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00981/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/88d19cc830784200a8ba57f6b7fe7905

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions

Authors: Elena Pretegiani, Pietro Piu, Francesca Rosini, Pamela Federighi, Valeria Serchi, Gemma Tumminelli, Maria Teresa Dotti, Antonio Federico, Alessandra Rufa

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: frontocerebellar network, goal-directed actions, cognitive functions, latency, error, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2018.00274/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/5f033a78b00e408486fbdc4ebae071b0

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Authors: Serena Nannucci, Valentina Rinnoci, Giovanni Pracucci, Andrew D MacKinnon, Francesca Pescini, Poneh Adib-Samii, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Domenico Inzitari, Hugh S Markus, Leonardo Pantoni

Source: PLoS ONE, Vol 13, Iss 1, p e0190878 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5784892?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3f79d4c8152d4d50bf8c1be524ec919d

Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.

Authors: Mario Mascalchi, Stefano Diciotti, Marco Giannelli, Andrea Ginestroni, Andrea Soricelli, Emanuele Nicolai, Marco Aiello, Carlo Tessa, Lucia Galli, Maria Teresa Dotti, Silvia Piacentini, Elena Salvatore, Nicola Toschi

Source: PLoS ONE, Vol 9, Iss 2, p e89410 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0089410&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/2e37afab5d904653b25abca50ec7e6f2

Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis.

Authors: Lucia De Franceschi, Giovanni Scardoni, Carlo Tomelleri, Adrian Danek, Ruth H Walker, Hans H Jung, Benedikt Bader, Sara Mazzucco, Maria Teresa Dotti, Angela Siciliano, Antonella Pantaleo, Carlo Laudanna

Source: PLoS ONE, Vol 7, Iss 2, p e31015 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3280254?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/5d1b43fd334c44d0893cd668dec8f24f

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