Andrea Martinuzzi

Summary

Country: Italy

Publications

  1. ncbi request reprint Phenotype modulators in myophosphorylase deficiency
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
    Ann Neurol 53:497-502. 2003
  2. doi request reprint The International Classification of Functioning Disability and Health, version for children and youth as a roadmap for projecting and programming rehabilitation in a neuropaediatric hospital unit
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Via Costa Alta 37, IT 31015 Conegliano, Italy
    J Rehabil Med 42:49-55. 2010
  3. ncbi request reprint Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Via Costa Alta 37, 31015 Conegliano TV, Italy
    Muscle Nerve 37:350-7. 2008
  4. ncbi request reprint Disseminating the WHO International Classification of Functioning Health and Disability (ICF) in the Veneto region of Italy
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
    Disabil Rehabil 30:71-80. 2008
  5. doi request reprint Projecting and programming rehabilitation based on ICF-CY format in a neuropediatric hospital unit
    Anna Maria Salghetti
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S55-60. 2009
  6. doi request reprint Children with disability at school: the application of ICF-CY in the Veneto region
    Gianni De Polo
    E Medea Scientific Institute, Conegliano, Italy
    Disabil Rehabil 31:S67-73. 2009
  7. doi request reprint The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approach
    Elisa Petacchi
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S159-69. 2009
  8. doi request reprint Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework
    Paolo Bonanni
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S121-7. 2009
  9. ncbi request reprint International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilities
    Mariamalia Battaglia
    E Medea Scientific Institute, Conegliano Research Centre, Via Costa Alta 37, 31015 Conegliano, Treviso, Italy
    Dev Med Child Neurol 46:98-106. 2004
  10. doi request reprint Implementation of an ICF-based project/program in a pediatric neuro-rehabiltation hospital: follow-up evaluation by stakeholders
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Research Branch of the Italian WHO FIC CC, Conegliano, Italy
    Disabil Rehabil 35:1059-64. 2013

Collaborators

  • Matilde Leonardi
  • Alberto Raggi
  • Corrado Angelini
  • Gabriele Siciliano
  • Graham J Kemp
  • Marina Fanin
  • P Bonanni
  • Carlo Francescutti
  • R Lodi
  • Claudio Bruno
  • Maria Bonsignore
  • G de Girolamo
  • M Nobile
  • Alessandra Renieri
  • M Mancuso
  • Massimo Pandolfo
  • U Nocentini
  • Cecilia Marino
  • L Merlini
  • Nereo Bresolin
  • Chris Panzeri
  • Elisa Petacchi
  • Anna Maria Salghetti
  • Gianni De Polo
  • Alessia Arnoldi
  • Maria Teresa Bassi
  • Francesca Crippa
  • Sara Galbiati
  • Andrea Daga
  • Genny Orso
  • Monica Pradal
  • Mara Buffoni
  • Gianfranco Cafforio
  • Pierluigi Longatti
  • Alessandra Tonelli
  • Giovanni Meola
  • Francesca Redaelli
  • Maria Grazia D'Angelo
  • Giacomo Pietro Comi
  • Emanuela Russo
  • Antonio Toscano
  • Alessandra Frigerio
  • Mariamalia Battaglia
  • Evan Fertig
  • Dina Facchin
  • Maria Teresa Armellin
  • Sonia Bortolot
  • Ornella Moret
  • Silvana Betto
  • Marco Gubernale
  • Anna Carla Turconi
  • Consiglia Pacelli
  • Nicola Morelli
  • Gaetano Villani
  • Domenico D'Avella
  • Rosanna Calabrese
  • Francesco Crippa
  • Claudia Crimella
  • Alessandro Fiorindi
  • Selina Piazza
  • Manuela Sironi
  • Uberto Pozzoli
  • Alberto Feletti
  • Dimitra Papadimitriou
  • Roberto Giorda
  • Alessandro Prelle
  • Alessandro Zuddas
  • Carlo Pietro Trevisan
  • Massimo Ammaniti
  • Laura Vanzin
  • Alex Papadimitriou
  • Ombretta Carlet
  • Antonio Trabacca
  • Valentina Pastore
  • Massimo Molteni
  • M hammed Aguennouz
  • Carlo Lenti
  • Olimpia Musumeci
  • Carmelo Rodolico
  • Elizabeth L Tudor
  • Pina Cavolina
  • Sara Bonato
  • Cinzia Baschirotto
  • Giovanni Vazza
  • Marco Crimi
  • Paolo Profice
  • Emilio Clementi
  • Filippo Muratori
  • Monica Sciacco
  • Franco Nardocci

Detail Information

Publications21

  1. ncbi request reprint Phenotype modulators in myophosphorylase deficiency
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
    Ann Neurol 53:497-502. 2003
    ..We show that ACE insertion/deletion polymorphism may play a significant role as phenotype modulator in McArdle's disease...
  2. doi request reprint The International Classification of Functioning Disability and Health, version for children and youth as a roadmap for projecting and programming rehabilitation in a neuropaediatric hospital unit
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Via Costa Alta 37, IT 31015 Conegliano, Italy
    J Rehabil Med 42:49-55. 2010
    ....
  3. ncbi request reprint Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Via Costa Alta 37, 31015 Conegliano TV, Italy
    Muscle Nerve 37:350-7. 2008
    ..Treatment with ramipril improves disability and modifies exercise physiology only in D/D patients, raising the possibility of a differential haplotype-linked sensitivity to the treatment...
  4. ncbi request reprint Disseminating the WHO International Classification of Functioning Health and Disability (ICF) in the Veneto region of Italy
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
    Disabil Rehabil 30:71-80. 2008
    ....
  5. doi request reprint Projecting and programming rehabilitation based on ICF-CY format in a neuropediatric hospital unit
    Anna Maria Salghetti
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S55-60. 2009
    ..To follow-up the impact of a format based upon the International Classification of Functioning Disability and Health, version for children and youth (ICF-CY) as a roadmap for in-hospital pediatric neuro-rehabilitation...
  6. doi request reprint Children with disability at school: the application of ICF-CY in the Veneto region
    Gianni De Polo
    E Medea Scientific Institute, Conegliano, Italy
    Disabil Rehabil 31:S67-73. 2009
    ....
  7. doi request reprint The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approach
    Elisa Petacchi
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S159-69. 2009
    ....
  8. doi request reprint Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework
    Paolo Bonanni
    E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
    Disabil Rehabil 31:S121-7. 2009
    ..The aim of the study is to test whether the ICF-CY framework is effectively able to capture the various dimensions of health in AS...
  9. ncbi request reprint International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilities
    Mariamalia Battaglia
    E Medea Scientific Institute, Conegliano Research Centre, Via Costa Alta 37, 31015 Conegliano, Treviso, Italy
    Dev Med Child Neurol 46:98-106. 2004
    ..Our study, although acknowledging the universal application of the ICF, and the ICF's value as a clinical tool, calls for its specific adaptation to accommodate better the peculiarities of child functioning and disability...
  10. doi request reprint Implementation of an ICF-based project/program in a pediatric neuro-rehabiltation hospital: follow-up evaluation by stakeholders
    Andrea Martinuzzi
    E Medea Scientific Institute, Conegliano Research Centre, Research Branch of the Italian WHO FIC CC, Conegliano, Italy
    Disabil Rehabil 35:1059-64. 2013
    ....
  11. doi request reprint The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
    Gianfranco Cafforio
    Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy
    Neurol Sci 29:189-91. 2008
    ..This family confirms the clinical heterogeneity associated with this specific mutation. Moreover, this is the first report in which neuroimaging seems to confirm the pyramidal alterations in dHMN associated to SPG17...
  12. pmc Training on the International Classification of Functioning, Disability and Health (ICF): the ICF-DIN Basic and the ICF-DIN Advanced Course developed by the Disability Italian Network
    Matilde Leonardi
    C Besta Italian National Neurological Institute, Via Celoria 11, I 20133 Milan, Italy
    J Headache Pain 6:159-64. 2005
    ..The ICF-DIN courses already carried out in Italy show that this teaching methodology teaches how to avoid incomplete applications, simplification and misunderstanding of ICF's complexity...
  13. ncbi request reprint McArdle disease: the mutation spectrum of PYGM in a large Italian cohort
    Claudio Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
    Hum Mutat 27:718. 2006
    ..R50X) accounted for about 43% of alleles in our cohort and that no population-related mutations are clearly identified in Italian patients...
  14. ncbi request reprint New mutations in TK2 gene associated with mitochondrial DNA depletion
    Sara Galbiati
    Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, I R C C S Ospedale Maggiore Policlinico, Milano, Italy
    Pediatr Neurol 34:177-85. 2006
    ....
  15. pmc Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
    Genny Orso
    Dulbecco Telethon Institute and Department of Pharmacology, University of Padova, Padova, Italy
    J Clin Invest 115:3026-34. 2005
    ....
  16. doi request reprint Endoscopic anatomy of the fourth ventricle
    Pierluigi Longatti
    Department of Neurosurgery, Treviso Hospital, Italy
    J Neurosurg 109:530-5. 2008
    ....
  17. ncbi request reprint Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia
    Francesca Crippa
    Laboratory of Molecular Biology, IRCCS Eugenio Medea, Via D L Monza 20, 23842 Bosisio Parini, Lecco, Italy
    Arch Neurol 63:750-5. 2006
    ..Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases...
  18. ncbi request reprint The Italian preadolescent mental health project (PrISMA): rationale and methods
    Alessandra Frigerio
    Child Psychiatry Unit, Scientific Institute E Medea, Bosisio Parini LC, Italy
    Int J Methods Psychiatr Res 15:22-35. 2006
    ..The findings of this study are expected to allow an adequate planning of interventions for the prevention and the treatment of mental disorders in preadolescence as well as efficient health services...
  19. ncbi request reprint The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
    Chris Panzeri
    IRCCS E Medea, Laboratory of Molecular Biology, Bosisio Parini Lecco, Italy
    Brain 129:1710-9. 2006
    ..Finally, the phenotype-genotype correlation in our patient, in view of all other ALS2 mutant cases reported previously, suggests a functional interplay of long and short forms of alsin in relation to disease onset and progression...
  20. ncbi request reprint Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features
    Evan Fertig
    Department of Neurology, Yale University School of Medicine, New Haven, CT, USA
    Neurology 60:1687-90. 2003
    ..This report suggests that this domain may participate in the development of the ADPEAF phenotype...
  21. doi request reprint A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    Alessia Arnoldi
    Laboratory of Molecular Biology, Scientific Institute E Medea, Bosisio Parini, Italy
    Hum Mutat 29:522-31. 2008
    ..Overall, our data confirm that SPG7 point mutations are rare causes of HSP, in both sporadic and familial forms, while underlying the puzzling and intriguing aspects of histological and biochemical consequences of paraplegin loss...