Characterizing obsessive-compulsive features in Duchenne muscular dystrophy: a DSM-5 approach

Authors: Cumbo, Francesca ¹, Tosi, Michele ¹, Catteruccia, Michela, Bertini, Enrico Silvio, D’Amico, Adele ^⁎

Source: In Neuromuscular Disorders September 2026 66

285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands

Authors: Quijano-Roy, Susana ^aa, Baranello, Giovanni ^bb, Farrar, Michelle Anne ^cc, Andrés, David Gómez ^dd, Molinero, Mireia Alvarez ^dd, Brusa, Chiara ^bb, Garcia-Uzquiano, Rocio ^aa, Kariyawasam, Didu ^ee, Ardıçlı, Didem ^ff, Castiglioni, Claudia ^gg, Catteruccia, Michela ^hh, Claus, Peter ⁱⁱ, Crawford, Thomas ^jj, Cumbo, Francesca ^kk, Darras, Basil T. ^ll, Deconinck, Nicolas ^mm, Desguerre, Isabelle ⁿⁿ, Erbas, Yasemin ^oo, Germanaud, David ^pp, Gillingwater, Tom ^qq, Molitierno, Nicola ^rr, Mroczek, Magdalena ^ss, Ouss, Lisa ^tt, Ribeiro, Joana ^uu, Schara-Schmidt, Ulrike ^vv, Scoto, Mariacristina ^ww, Thorman, Portia ^xx, Wadman, Renske ^yy, Gómez-Andrés, David ^{a, ⁎}, Farrar, Michelle A ^b, Alvarez-Molinero, Mireia ^{a, e}, Garcia-Uzquiano, Rocío ^c

Source: In Neuromuscular Disorders March 2026 60

Becker Muscular Dystrophy: Behavior and Psychology

Authors: Cumbo, Francesca^Aff9, Tosi, Michele^Aff9, Catteruccia, Michela^Aff9, D’Amico, Adele^Aff9

Contributors: Martin, Colin R., editor^Aff1, Preedy, Victor R., editor^{Aff2, Aff3, Aff4}, Patel, Vinood B., editor^Aff5, Rajendram, Rajkumar, editor^{Aff6, Aff7, Aff8}

Source: Handbook of the Behavior and Psychology of Disease. :923-946

Adrenal insufficiency in individuals with Duchenne muscular dystrophy treated with glucocorticoids: Insights from the past, current challenges, and future directions

Authors: Weber, David R., Ahmet, Alexandra, Kinnett, Kathi, Lautatzis, Maria-Elena, McMillan, Hugh J., Apkon, Susan, Bansal, Shipra, Benjamin, Robert W., Clemens, Paula R., Crane, Janet L., Fiscaletti, Melissa, Lam, Carol, McAdam, Laura, Rutter, Meilan M., Merchant, Nadia, Nasomyont, Nat, Nicolau, Stefan, Phung, Kim, Renthal, Nora, Scavina, Mena, Sorbara, Julia, Tamaroff, Jaclyn, Tian, Cuixia, Wood, Claire, Aversa, Tommaso, Bello, Luca, Corbetta, Sabrina, Cumbo, Francesca, De Sanctis, Luisa, Di Iorgi, Natascia, Ferlin, Alberto, Fintini, Danilo, Mercuri, Eugenio Maria, Panicucci, Chiara, Tornese, Gianluca, Schrader, Rachel, Selby, Kathryn A., Veerapandiyan, Aravindhan, Wong, Sze Choong, Ward, Leanne M., Sbrocchi, Anne Marie

Contributors: Parent Project Muscular Dystrophy

Source: Journal of Neuromuscular Diseases ; ISSN 2214-3599 2214-3602

Availability: https://doi.org/10.1177/22143602261485046
https://journals.sagepub.com/doi/pdf/10.1177/22143602261485046
https://journals.sagepub.com/doi/full-xml/10.1177/22143602261485046

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation

Authors: Sartorelli, Jacopo^Aff1, Travaglini, Lorena^Aff2, Colona, Vito Luigi^Aff3, Casali, Carlo^Aff4, Cumbo, Francesca^Aff1, D’Amico, Adele^Aff1, Longo, Daniela^Aff5, Novelli, Antonio^Aff2, Vasco, Gessica^Aff3, Bertini, Enrico^Aff1, Nicita, Francesco^{Aff1, IDs12311024017435_cor11}

Source: The Cerebellum. 23(6):2408-2413

Italian validation of the SMA independence scale–upper limb module

Authors: Bravetti, Chiara^Aff1, Coratti, Giorgia^{Aff1, Aff2}, Pera, Maria Carmela^{Aff1, Aff2, Aff3}, Gadaleta, Giulio^Aff4, Mongini, Tiziana^Aff4, Coccia, Michela^Aff5, Ferrero, Amanda^Aff5, Costantini, Emanuele Maria^Aff5, Longo, Antonella^Aff6, Cumbo, Francesca^Aff6, Catteruccia, Michela^Aff6, D’Amico, Adele^Aff6, Morando, Simone^Aff7, Brolatti, Noemi^Aff7, Bruno, Claudio^Aff7, Verriello, Lorenzo^Aff8, Pessa, Maria Elena^Aff8, Antonaci, Laura^{Aff1, Aff2}, Faini, Claudia^Aff10, Liguori, Rocco^{Aff9, Aff10, Aff11}, Vacchiano, Veria^{Aff9, Aff11}, Ruggiero, Lucia^Aff12, Zoppi, Dario^Aff12, Russo, Anna^Aff12, Torri, Francesca^Aff13, Ricci, Giulia^Aff13, Chiappini, Roberto^Aff13, Siciliano, Gabriele^Aff13, Trabacca, Antonio^Aff14, Agosto, Caterina^Aff15, Benedetti, Francesca^Aff15, Pane, Marika^{Aff1, Aff2}, Mercuri, Eugenio^{Aff1, Aff2, IDs00431025062074_cor1}, Capasso, Anna, Arpaia, Chiara, Cicala, Gianpaolo, Paolucci, Sophia, Cutrì, Chiara, Villa, Marianna, Sestito, Simona, Polo, Agnese, Falco, Anna, Rausa, Azzurra, Moro, Marianna, Porto, Chiara, De Gioia, Alessia, De Rosa, Elena, Rolleri, Elisa, Ascione, Federica, Giammartino, Federica, Petracca, Giorgia, Esposito, Lucia, Bianchetti, Maddalena, Marsella, Giuseppe, Malaspina, Martina, Dainesi, Irene, Mannucci, Sara, De Maria, Martina, De Luca, Giacomo, Mizzoni, Irene, Carlesi, Adelina

Source: European Journal of Pediatrics. 184(7)

Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study

Authors: Cumbo, Francesca ^{a, 1}, Tosi, Michele ^{a, 1}, Mizzoni, Irene ^a, Catteruccia, Michela ^a, Carlesi, Adelina ^b, Bertini, Enrico ^a, D'Amico, Adele ^{a, ⁎}

Source: In European Journal of Paediatric Neurology July 2024 51:58-61

Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study

Authors: Cumbo, Francesca ^{a, 1}, Tosi, Michele ^{a, 1}, Catteruccia, Michela ^a, Diodato, Daria ^a, Nicita, Francesco ^a, Mizzoni, Irene ^a, De Luca, Giacomo ^a, Carlesi, Adelina ^b, Alfieri, Paolo ^c, Vicari, Stefano ^{c, d}, Bertini, Enrico Silvio ^a, D'Amico, Adele ^{a, ⁎}

Source: In Neuromuscular Disorders March 2024 36:33-37

Measures of Adaptive Behavior

Authors: Paolo, Alfieri^Aff3, Montanaro, Federica Alice Maria^Aff3, Caciolo, Cristina^Aff3, Cumbo, Francesca^Aff3, Scibelli, Francesco^Aff3, Vicari, Stefano^{Aff4, Aff3}

Contributors: Matson, Johnny L., Series Editor^{Aff1, Aff2}

Source: Handbook of Clinical Child Psychology : Integrating Theory and Research into Practice. :347-371

Case Series: ADHD Phenotype in a Family with NPY Gene Microduplication.

Authors: Alfieri, Paolo, Rolleri, Elisa, Caciolo, Cristina, Novelli, Antonio, Viscogliosi, Giusy, Genovese, Silvia, Cumbo, Francesca, Cappa, Marco, Menghini, Deny, Digilio, Maria Cristina, Costanzo, Floriana, Vicari, Stefano

Source: Journal of Clinical Medicine; Oct2026, Vol. 15 Issue 19, p7551, 12p

Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers

Authors: Tosi, Michele ^{a, 1}, Cumbo, Francesca ^{a, 1}, Catteruccia, Michela ^a, Carlesi, Adelina ^b, Mizzoni, Irene ^a, De Luca, Giacomo ^a, Cherchi, Claudio ^c, Cutrera, Renato ^d, Bertini, Enrico ^a, D'Amico, Adele ^{a, ∗}

Source: In European Journal of Paediatric Neurology March 2023 43:36-43

Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients

Authors: Cumbo, Francesca ^{a, b, ⁎, 1}, Tosi, Michele ^{a, 1}, Catteruccia, Michela ^a, Diodato, Daria ^a, Nicita, Francesco ^a, Capitello, Teresa Grimaldi ^b, Alfieri, Paolo ^c, Vicari, Stefano ^{c, d}, Bertini, Enrico ^a, D'Amico, Adele ^a

Source: In Neuromuscular Disorders September 2022 32(9):736-742

“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

Authors: Nicita, Francesco^{Aff1, IDs4143102201111z_cor1}, Stregapede, Fabrizia^Aff1, Deodato, Federica^Aff2, Pizzi, Simone^Aff3, Martinelli, Simone^Aff4, Pagliara, Daria^Aff5, Aiello, Chiara^Aff1, Cumbo, Francesca^Aff1, Piemonte, Fiorella^Aff1, D’Amico, Jessica^Aff1, Pro, Stefano^Aff6, Longo, Daniela^Aff7, Genovese, Silvia^Aff8, Tartaglia, Marco^Aff3, Escolar, Maria L.^Aff9, Bertini, Enrico^Aff1, Travaglini, Lorena^{Aff1, IDs4143102201111z_cor17}

Source: European Journal of Human Genetics. 30(8):984-988

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

Authors: Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela

Contributors: Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela

Subject Terms: Malan Syndrome, NFIX variant, adaptive behavior, cognition, intellectual disability, sensory processing

File Description: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35887841; info:eu-repo/semantics/altIdentifier/wos/WOS:000831514000001; volume:11; issue:14; firstpage:1; lastpage:13; numberofpages:13; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11585/919430

Availability: https://hdl.handle.net/11585/919430
https://doi.org/10.3390/jcm11144078
https://www.mdpi.com/2077-0383/11/14/4078

Poster PT Noonan REV 24 ago JPG

Authors: Montanaro, Federica Alice Maria, Alfieri, Paolo, Caciolo, Cristina, Cumbo, Francesca, Tartaglia, Marco, Licchelli, Serena, Digilio, Maria Cristina, Vicari, Stefano

Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study

Authors: Buchignani, Bianca, primary, Cicala, Gianpaolo, additional, Cumbo, Francesca, additional, Ricci, Martina, additional, Capasso, Anna, additional, Ticci, Chiara, additional, Mazzanti, Sara, additional, Brolatti, Noemi, additional, Tosi, Michele, additional, Dosi, Claudia, additional, Antonaci, Laura, additional, Coratti, Giorgia, additional, Pera, Maria Carmela, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Berti, Beatrice, additional, Frongia, Anna Lia, additional, Sacchini, Michele, additional, Bruno, Claudio, additional, Masson, Riccardo, additional, D’Amico, Adele, additional, Battini, Roberta, additional, Pane, Marika, additional, Mercuri, Eugenio, additional

Source: Archives of Disease in Childhood. 2024/01/30

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Authors: Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, Muntoni, Francesco, additional

Source: European Journal of Paediatric Neurology. 2023/11/01

Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome

Authors: Montanaro, Federica Alice Maria, Alfieri, Paolo, Caciolo, Cristina, Cumbo, Francesca, Piga, Simone, Tartaglia, Marco, Licchelli, Serena, Digilio, Maria Cristina, Vicari, Stefano

Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 4, page 510-519 ; ISSN 1552-4868 1552-4876

Availability: https://doi.org/10.1002/ajmg.c.32025
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32025
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.32025

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

Authors: Maiorana, Arianna^{Aff1, IDs13023021020453_cor1}, Caviglia, Stefania^Aff2, Greco, Benedetta^Aff2, Alfieri, Paolo^Aff3, Cumbo, Francesca^Aff3, Campana, Carmen^Aff1, Bernabei, Silvia Maria^Aff4, Cusmai, Raffaella^Aff5, Mosca, Antonella^Aff6, Dionisi-Vici, Carlo^Aff1

Source: Orphanet Journal of Rare Diseases. 16(1)

Additional file 1 of Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

Authors: Maiorana, Arianna, Caviglia, Stefania, Greco, Benedetta, Alfieri, Paolo, Cumbo, Francesca, Campana, Carmen, Bernabei, Silvia Maria, Cusmai, Raffaella, Mosca, Antonella, Dionisi-Vici, Carlo

Subject Terms: 3. Good health