Neuromuscular Unit and Neuromuscular Laboratory

Principal Investigator: Prof.ssa Tiziana E. Mongini

Group members:

Tiziana E Mongini (Principal Investigator)
Loredana Chiadò-Piat (Biologist)
Giulio Gadaleta (PhD Student)
Guido Urbano (Resident)
Giorgia Brodini (Resident)
Sara Bortolani (PhD Student)
Chiara Brusa (PhD Student)
Silvia Boschi (Research Fellow)

Address and contacts:

Mongini, Tiziana E; 0116709178, tizianaenrica.mongini@unito.it

Main research activities of the research group
Neuromuscular disorders are a large group of rare and disabling pathologies, affecting second motor neurons, peripheral nerves, muscle junctions, and skeletal muscles; they manifest at all ages, and can be genetically determined or acquired. This is a rapidly evolving field of medicine, with great research interests. The Neuromuscular Unit is involved in several observational studies (genotype-phenotype correlation, diseases natural history, participation in national and international Registries, identification of biomarkers and clinical protocols for early diagnosis in children and adults) and on implementation of innovative therapies (i.e., gene therapy); moreover, therapeutical studies of phase II and III are carried out for different subgroups of pathologies. The Unit is composed by neurologists, child neuropsychiatrists, biologists and therapists; they participate in numerous national and international research networks, and collaborate with many patient associations.

List of 10 main publications

Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T 2018. Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care. Eur J Paediatr Neurol. 22; 2018: 1103-1109.
Bortolani S, Stura G, Ventilii G, Vercelli L, Rolle E, Ricci F, Bergui M, Mongini T. Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach. Neuromuscul Disord. 29; 2019: 742-746
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R 2021 A 5-year clinical follow-up study from the Italian National Registry for FSHD. J Neurol 268; 2021: 356-366.
Ricci FS, D'Alessandro R, Vacchetti M, Salvalaggio A, Somà A, Daffunchio G, Spada M, Turra R, Bobbio M, Ciuti A, Davico C, Vitiello B, Mongini TE. 2022 Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study. Children (Basel) 17;2022 :1063
Racca F, Vianello A, Mongini T, Ruggeri P, Versaci A, Vita GL, Vita G. 2020. Practical approach to respiratory emergencies in neurological diseases. Neurol Sci. 41; 2020:497-508.
Bortolani S, Brusa C, Rolle E, Monforte M, De Arcangelis V, Ricci E, Mongini TE Tasca G 2021. Technology outcome measures in neuromuscular disorders: A systematic review. Eur J Neurol. 28. 2021: 15235
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. 2020. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol. 39; 2020:565-582.
Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V. 2019. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry. 90; 2019:490-493.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease 2022. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. Lancet Child Adolesc Health. 6; 2022: 28-37.
Montano V, Orsucci D, Carelli V, La Morgia C, Valentino ML, Lamperti C, Marchet S, Musumeci O, Toscano A, Primiano G, Santorelli FM, Ticci C, Filosto M, Rubegni A, Mongini T, Tonin P, Servidei S, Ceravolo R, Siciliano G, Mancuso M. 2021. Adult-onset mitochondrial movement disorders: a national picture from the Italian Network. J N