Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation
2023 Moscatelli, M; Benzoni, C; Doniselli, F; Verri, M; Pascuzzo, R; Aquino, D; Mazzi, F; Erbetta, A; Salsano, E
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
2023 Dominik, N; Magri, S; Curro, R; Abati, E; Facchini, S; Corbetta, M; Macpherson, H; Di Bella, D; Sarto, E; Stevanovski, I; Chintalaphani, S; Akcimen, F; Manini, A; Vegezzi, E; Quartesan, I; Montgomery, K; Pirota, V; Crespan, E; Perini, C; Grupelli, G; Tomaselli, P; Marques, W; Ambrose, J; Arumugam, P; Baple, E; Bleda, M; Boardman-Pretty, F; Boissiere, J; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Craig, C; Daugherty, L; De Burca, A; Devereau, A; Elgar, G; Foulger, R; Fowler, T; Furio-Tari, P; Gustavsson, E; Hackett, J; Halai, D; Hamblin, A; Henderson, S; Holman, J; Hubbard, T; Ibanez, K; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Mason, J; Mcdonagh, E; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; Odhams, C; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Rugginini, B; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smedley, D; Smith, K; Sosinsky, A; Spooner, W; Stevens, H; Stuckey, A; Sultana, R; Thomas, E; Thompson, S; Tregidgo, C; Tucci, A; Walsh, E; Watters, S; Welland, M; Williams, E; Witkowska, K; Wood, S; Zarowiecki, M; Shaw, J; Polke, J; Salsano, E; Fenu, S; Pareyson, D; Pisciotta, C; Tofaris, G; Nemeth, A; Ealing, J; Radunovic, A; Kearney, S; Kumar, K; Vucic, S; Kennerson, M; Reilly, M; Houlden, H; Deveson, I; Tucci, A; Taroni, F; Cortese, A
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
2023 Kohler, W; Engelen, M; Eichler, F; Lachmann, R; Fatemi, A; Sampson, J; Salsano, E; Gamez, J; Molnar, M; Pascual, S; Rovira, M; Vila, A; Pina, G; Martin-Ugarte, I; Mantilla, A; Pizcueta, P; Rodriguez-Pascau, L; Traver, E; Vilalta, A; Pascual, M; Martinell, M; Meya, U; Mochel, F; Mc Govern, E; Yazbeck, E; Barbier, M; Luton, M; Pousset, F; Hogrel, J; Adanyeguh, I; Then Bergh, F; Bergner, C; Unterlauft, A; Roicke, H; Hoffmann, K; Scherlach, C; Kalb, A; Meilick, B; Reuschel, M; Fenu, S; Mauro, E; Murphy, E; Krishna, G; Beyene, T; Sierra, A; Quinoa, S; Belen Canovas, A; Grosz, Z; Gyorgyi, B; van de Stadt, S; Huffnagel, I; van Ballegoij, W; Voermans, M; Seyedsadjadi, R; Corre, C; Godbole, N; Grant, N; Brito Pires, C; Trovato, M; Yeh, N; Goodman, J; Keller, J; Joseph, C; Van Haren, K; Sakamuri, S; Duong, T; Perrone, L; Tran, S; Dunaway Young, S; Hashmi, S
International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy: A Consensus-Based Approach
2022 Engelen, M; Van Ballegoij, W; Mallack, E; Van Haren, K; Kohler, W; Salsano, E; Van Trotsenburg, A; Mochel, F; Sevin, C; Regelmann, M; Tritos, N; Halper, A; Lachmann, R; Davison, J; Raymond, G; Lund, T; Orchard, P; Kuehl, J; Lindemans, C; Caruso, P; Turk, B; Moser, A; Vaz, F; Ferdinandusse, S; Kemp, S; Fatemi, A; Eichler, F; Huffnagel, I
Interactive storytelling for children: A case-study of design and development considerations for ethical conversational AI
2022 Chubb, J; Missaoui, S; Concannon, S; Maloney, L; Walker, J
Sender vs. recipient-orientated information systems revisited
2022 Macfarlane, A; Missaoui, S; Makri, S; Gutierrez Lopez, M
Making newsworthy news: The integral role of creativity and verification in the human information behavior that drives news story creation
2022 Gutierrez Lopez, M; Makri, S; Macfarlane, A; Porlezza, C; Cooper, G; Missaoui, S
A Question of Design: Strategies for Embedding AI-Driven Tools into Journalistic Work Routines
2023 Gutierrez Lopez, M; Porlezza, C; Cooper, G; Makri, S; Macfarlane, A; Missaoui, S
Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients
2022 Rossi Sebastiano, D; Cazzato, D; Visani, E; Dalla Bella, E; Brambilla, L; Devigili, G; Caroppo, P; Maggi, L; Nanetti, L; Salsano, E; Canafoglia, L; Canavero, I; Anghileri, E; Bonfoco, D; Lanteri, P
Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency
2022 Di Giacomo, R; Salsano, E; Deleo, F; Pastori, C; Didato, G; Stabile, A; Ferrario, R; Giovagnoli, A; Benzoni, C; Sarro, L; Visani, E; Canafoglia, L
3-Methylglutaconic aciduria type I a rare cause of late-onset leukoencephalopathy
2022 Benzoni, C; Magri, S; Moscatelli, M; Fenu, S; Caccia, C; Taroni, F; Salsano, E; Di Bella, D
Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature
2022 Benzoni, C; Moscatelli, M; Fenu, S; Pareyson, D; Salsano, E
Pain Study in X-Linked Adrenoleukodystrophy in Males and Females
2021 Bachiocco, V; Cappa, M; Petroni, A; Salsano, E; Bizzarri, C; Ceccarelli, I; Cevenini, G; Pensato, V; Aloisi, A
Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
2022 Salsano, E; Benzoni, C
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
2021 Mura, E; Nicita, F; Masnada, S; Battini, R; Ticci, C; Montomoli, M; Berardinelli, A; Pantaleoni, C; Ardissone, A; Foiadelli, T; Tartara, E; Salsano, E; Veggiotti, P; Ceccherini, I; Moroni, I; Bertini, E; Tonduti, D
Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings
2021 Durães, J; Salsano, E; Macário, M
Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia
2021 Benzoni, C; Moscatelli, M; Fenu, S; Venerando, A; Salsano, E
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
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Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study
2021 Bianchi-Marzoli, S; Fenu, S; Melzi, L; Benzoni, C; Antonazzo, F; Tomas Roldan, E; Farina, L; Tremolada, G; Mauro, E; Pensato, V; Gellera, C; Pareyson, D; Salsano, E
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C
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