Research Topics
Species | Andrea MartinuzziSummaryCountry: Italy Publications
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Detail Information
Publications
Phenotype modulators in myophosphorylase deficiencyAndrea 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...- Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's diseaseAndrea 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... - Disseminating the WHO International Classification of Functioning Health and Disability (ICF) in the Veneto region of ItalyAndrea Martinuzzi
E Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy
Disabil Rehabil 30:71-80. 2008.... 
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 unitAndrea 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....- Projecting and programming rehabilitation based on ICF-CY format in a neuropediatric hospital unitAnna 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... - Children with disability at school: the application of ICF-CY in the Veneto regionGianni De Polo
E Medea Scientific Institute, Conegliano, Italy
Disabil Rehabil 31:S67-73. 2009.... - Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation frameworkPaolo 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... - International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilitiesMariamalia 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... - The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approachElisa Petacchi
E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy
Disabil Rehabil 31:S159-69. 2009.... - McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio 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... - New mutations in TK2 gene associated with mitochondrial DNA depletionSara 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.... 
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 NetworkMatilde 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...- The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutationGianfranco 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... - Endoscopic anatomy of the fourth ventriclePierluigi Longatti
Department of Neurosurgery, Treviso Hospital, Italy
J Neurosurg 109:530-5. 2008.... - A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegiaAlessia 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... - Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory featuresEvan 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... - Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca 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... - The Italian preadolescent mental health project (PrISMA): rationale and methodsAlessandra 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... - The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological functionChris 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... - Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastineGenny Orso
Dulbecco Telethon Institute and Department of Pharmacology, University of Padova, Padova, Italy
J Clin Invest 115:3026-34. 2005....