Developmental Neurology and Neurorehabilitation in Neuromuscular diseases

Description

Brindisi Research Center is a Reference Center for the diagnosis of neuromuscular diseases recognized by AIM (Italian Association of Myology), and develops research activities devoted to the study neurogenetic, neuroimaging and neurorehabilitation of children with neuromuscular diseases. Our Center, in collaboration with Bosisio Parini Center and several neurological clinics, also participates in clinical-genetic-functional studies on HSP and other hereditary neuropathies, through the collection of extensive case studies throughout the national territory.

Selected publications

• Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clinical Genetics 2012;82: 157-164.
• Trabacca A, Losito L, De Rinaldis M, Gennaro L. Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: A clinical and molecular genetic study. Journal of Child Neurology 2011;26: 235-238.
• Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi L. Pediatric biobanking: A pilot qualitative survey of practices, rules, and researcher opinions in ten European countries. Biopreservation and Biobanking 2012;10: 29-36.
• Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen L, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi L. Research biobanks in pediatrics: Ethical, legal and social issues under the lens of health professionals. In: Regulating Biobanks in Humans: The Use of Adult and Children Biomaterials for Clinical and Research Purposes; 2014, p. 29-46.
• Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. Journal of Medical Genetics 2010;47: 712-716.
• Losito L, De Rinaldis M, Gennaro L, Priori SG, Bloise R, Bassi MT, Bresolin N, Trabacca A. Charcot-Marie-Tooth type 1a in a child with Long QT syndrome. European Journal of Paediatric Neurology 2009;13: 459-462.
• Losito L, Gennaro L, Cacudi M, Rinaldis MD, Trabacca A. Moebius syndrome and hydrosyringomyelia: Description of a New Association. Journal of Child Neurology 2013;28: 798-801.
• Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Archives of Neurology 2006;63: 750-755.

Partnerships

• UOC Neuropsichiatria Infantile - Università degli Studi di Bari "Aldo Moro"
• Dipartimento di Psicologia - Università degli Studi di Bari "Aldo Moro"
• Dipartimento di Psicologia - Università del Salento - Lecce
• Dipartimento d'Ingegneria dell'Innovazione (DII) Università del Salento - Lecce
• UO di Gastroenterologia Pediatrica - Università degli Studi di Bari"Aldo Moro"
• Miami Childrens Hospital - USA
• Laboratorio di Psicologia Università del Salento - Lecce 
• Gruppo Italiano Paralisi Cerebrali Infantili (GIPCI) - Fondazione Pierfranco e Luisa Mariani - Milano
• Coordinamento Regionale Malattie Rare - l'Agenzia Regionale Strategica per la Salute ed il Sociale - Regione Puglia
• UOC di Oncoematologia Pediatrica - Ospedale V. Fazzi di Lecce - ASL Lecce
• UOC di Pediatria - Ospedale A. Perrino - Brindisi - ASL Brindisi
• Ospedale Pediatrico Giovanni XXII Bari