Publications by authors named "Andrea Martinuzzi"

100Publications

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Orphanet J Rare Dis 2020 Oct 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/s13023-020-01455-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7558742PMC
October 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Sep 26. Epub 2020 Sep 26.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
September 2020

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.

Front Neurosci 2020 21;14:111. Epub 2020 Feb 21.

Acquired Neuropsychological Disease Rehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Pieve di Soligo, Italy.

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http://dx.doi.org/10.3389/fnins.2020.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046620PMC
February 2020

Reduction in respiratory exacerbation rate in patients with severe bilateral cerebral palsy following daily PEP-mask therapy: a retrospective study.

Eur J Phys Rehabil Med 2020 Feb 4;56(1):68-72. Epub 2019 Sep 4.

Unit of Neurorehabilitation, IRCCS E. Medea Rehabilitation Hospital, Conegliano, Treviso, Italy.

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http://dx.doi.org/10.23736/S1973-9087.19.05794-0DOI Listing
February 2020

Becoming a young adult with cerebral palsy.

Res Dev Disabil 2019 Sep 19;92:103450. Epub 2019 Jul 19.

Scientific Institute, IRCCS E. Medea, Department of Pieve di Soligo, Treviso, Italy.

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http://dx.doi.org/10.1016/j.ridd.2019.103450DOI Listing
September 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 06 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

Determinants of mobility in populations of older adults: Results from a cross-sectional study in Finland, Poland and Spain.

Maturitas 2018 Sep 3;115:84-91. Epub 2018 Jul 3.

Neurological Institute C. Besta IRCCS Foundation, Neurology, Public Health and Disability Unit, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03785122183023
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http://dx.doi.org/10.1016/j.maturitas.2018.06.018DOI Listing
September 2018

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.

Neurobiol Dis 2018 06 24;114:129-139. Epub 2018 Feb 24.

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.02.010DOI Listing
June 2018

Benefits of Centralized Scheduling in a Postacute Residential Rehabilitation Program for People With Acquired Brain Lesions: A Pilot Study.

Arch Phys Med Rehabil 2017 04 18;98(4):746-750. Epub 2016 Dec 18.

Recovery and Care Scientific Institute (IRCCS) "E. Medea", Unit for the Rehabilitation of Acquired Neuropsychological Disorders, Pieve di Soligo and Conegliano (TV), Italy.

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http://dx.doi.org/10.1016/j.apmr.2016.11.018DOI Listing
April 2017

Safety profile of incobotulinum toxin A [Xeomin(®)] in gastrocnemious muscles injections in children with cerebral palsy: Randomized double-blind clinical trial.

Eur J Paediatr Neurol 2016 Jul 22;20(4):532-7. Epub 2016 Apr 22.

"E. Medea" Scientific Institute, Conegliano Research Centre, Conegliano, TV, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798163001
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http://dx.doi.org/10.1016/j.ejpn.2016.04.008DOI Listing
July 2016

Do we really need to open a classification box on personal factors in ICF?

Disabil Rehabil 2016 12;38(13):1327-8. Epub 2015 Oct 12.

h E. Medea Scientific Institute Conegliano Research Centre, Research Branch of the Italian WHO-FIC Collaborating Centre , Conegliano , Italy.

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http://dx.doi.org/10.3109/09638288.2015.1089604DOI Listing
July 2016

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

J Neurol 2015 Dec 26;262(12):2684-90. Epub 2015 Sep 26.

Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1007/s00415-015-7899-9DOI Listing
December 2015

Clinical and Pulmonary Function Markers of Respiratory Exacerbation Risk in Subjects With Quadriplegic Cerebral Palsy.

Respir Care 2015 Oct 28;60(10):1431-7. Epub 2015 Apr 28.

Neuropediatric Rehabilitation Unit, E Medea Scientific Institute, Conegliano, Italy.

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http://dx.doi.org/10.4187/respcare.04024DOI Listing
October 2015

A Long Term Effects of a New Onset Psychosis after DBS Treated with Quetiapine in a Patient with Parkinson's Disease.

Psychiatry Investig 2015 Jan 12;12(1):146-9. Epub 2015 Jan 12.

Rehabilitation Unit for the Acquired Neuropsychological Disorders, "E. Medea" Scientific Institute Conegliano-Pieve di Soligo Research Center, Pieve di Soligo, Italy.

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http://dx.doi.org/10.4306/pi.2015.12.1.146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310913PMC
January 2015

Pediatric neurorehabilitation and the ICF.

NeuroRehabilitation 2015 ;36(1):31-6

"E. Medea-La Nostra Famiglia" Institute, Conegliano Research Centre, Conegliano, Italy.

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http://dx.doi.org/10.3233/NRE-141188DOI Listing
July 2015

A survey on feasibility of ICF-CY use to describe persisting difficulties in executing tasks and activities of children and adolescent with disability in Italy.

Disabil Health J 2014 Oct 8;7(4):433-41. Epub 2014 Jun 8.

Neurology, Public Health and Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Via Celoria 11, 20133 Milano, MI, Italy.

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http://dx.doi.org/10.1016/j.dhjo.2014.05.006DOI Listing
October 2014

Multidimensional outcome measure of selective dorsal rhizotomy in spastic cerebral palsy.

Eur J Paediatr Neurol 2014 Nov 11;18(6):704-13. Epub 2014 Jun 11.

"E. Medea" Scientific Institute, Conegliano Research Centre, Conegliano, TV, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.06.003DOI Listing
November 2014

Individual and group treatment for patients with acquired brain injury in comprehensive rehabilitation.

Brain Inj 2014 ;28(8):1102-8

'E. Medea' Scientific Institute Conegliano-Pieve di Soligo Research Center, Unit for the Rehabilitation of Neuropsychological Disorders , Pieve di Soligo (TV) , Italy.

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http://www.tandfonline.com/doi/full/10.3109/02699052.2014.91
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http://dx.doi.org/10.3109/02699052.2014.910698DOI Listing
February 2015

Sociodemographic features and diagnoses as predictors of severe disability in a sample of adults applying for disability certification.

Int J Rehabil Res 2014 Jun;37(2):180-6

aNeurology, Public Health and Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan bConegliano-Pieve di Soligo Research Centre, IRCCS E. Medea Scientific Institute, Conegliano, Veneto, Italy.

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http://dx.doi.org/10.1097/MRR.0000000000000054DOI Listing
June 2014

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

J Neurol 2014 Feb 13;261(2):373-81. Epub 2013 Dec 13.

Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Via D. L. Monza 20, Bosisio Parini, 23842, Lecco, Italy.

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http://dx.doi.org/10.1007/s00415-013-7206-6DOI Listing
February 2014

Determinants of health and disability in ageing population: the COURAGE in Europe Project (collaborative research on ageing in Europe).

Clin Psychol Psychother 2014 May-Jun;21(3):193-8. Epub 2013 Jul 24.

Neurology, Public Health and Disability Unit, Neurological Institute Carlo Besta IRCCS Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/cpp.1856DOI Listing
January 2015

Validation of the COURAGE Built Environment Self-Reported Questionnaire.

Clin Psychol Psychother 2014 May-Jun;21(3):215-26. Epub 2013 Jul 16.

Neurology, Public Health and Disability Unit, Neurological Institute Carlo Besta IRCCS Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/cpp.1859DOI Listing
January 2015

Implementation of an ICF-based project/program in a pediatric neuro-rehabiltation hospital: follow-up evaluation by stakeholders.

Disabil Rehabil 2013 Jun 27;35(13):1059-64. Epub 2012 Sep 27.

E. Medea Scientific Institute, Conegliano Research Centre, Research Branch of the Italian WHO-FIC CC, Conegliano, Italy.

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http://dx.doi.org/10.3109/09638288.2012.720347DOI Listing
June 2013

A population survey in Italy based on the ICF classification: recognizing persons with severe disability.

ScientificWorldJournal 2012 1;2012:189097. Epub 2012 Feb 1.

Neurology, Public Health and Disability Unit-Scientific Directorate, Neurological Institute C. Besta IRCCS Foundation, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1100/2012/189097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290329PMC
July 2012

Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide.

Dev Med Child Neurol 2012 Oct 14;54(10):961-4. Epub 2012 Mar 14.

Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea, Conegliano (TV), Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04228.xDOI Listing
October 2012

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

Cochrane Database Syst Rev 2010 Dec 8(12):CD003458. Epub 2010 Dec 8.

MRC Centre for Neuromuscular Diseases and Dubowitz Neuromuscular Centre, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery and Great Ormond Street, PO Box 114, London, UK, WC1B 3BN.

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http://dx.doi.org/10.1002/14651858.CD003458.pub4DOI Listing
December 2010

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Neurol Sci 2011 Aug 24;32(4):665-8. Epub 2010 Nov 24.

Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.

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http://dx.doi.org/10.1007/s10072-010-0445-8DOI Listing
August 2011

Primary obstruction of the fourth ventricle outlets: neuroendoscopic approach and anatomic description.

Neurosurgery 2009 Dec;65(6):1078-85; discussion 1085-6

Department of Neurosurgery, Treviso Hospital, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1227/01.NEU.0000360133.29217.44DOI Listing
December 2009

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

Nature 2009 Aug 26;460(7258):978-83. Epub 2009 Jul 26.

Eugenio Medea Scientific Institute, Conegliano 31015, Italy.

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http://dx.doi.org/10.1038/nature08280DOI Listing
August 2009

Preliminary results of ICF dissemination in primary health care in Mozambique: sharing the Italian experience.

Disabil Rehabil 2009 ;31 Suppl 1:S78-82

Agenzia Regionale Sanità della Regione autonoma Friuli Venezia Giulia, Area Valutazione della Salute e della Disabilità, Udine, Italy.

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http://www.tandfonline.com/doi/full/10.3109/0963828090331793
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http://dx.doi.org/10.3109/09638280903317930DOI Listing
May 2010

Projecting and programming rehabilitation based on ICF-CY format in a neuropediatric hospital unit.

Disabil Rehabil 2009 ;31 Suppl 1:S55-60

E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy.

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http://www.tandfonline.com/doi/full/10.3109/0963828090331786
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http://dx.doi.org/10.3109/09638280903317864DOI Listing
May 2010

The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approach.

Disabil Rehabil 2009 ;31 Suppl 1:S159-69

E Medea Scientific Institute, Conegliano Pieve di Soligo Research Centre, Conegliano, Italy.

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http://dx.doi.org/10.3109/09638280903317849DOI Listing
May 2010

Cytosolic pH buffering during exercise and recovery in skeletal muscle of patients with McArdle's disease.

Eur J Appl Physiol 2009 Mar 9;105(5):687-94. Epub 2008 Dec 9.

School of Clinical Science, University of Liverpool, 4th Floor University Clinical Departments, Liverpool, L69 3GA, UK.

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http://dx.doi.org/10.1007/s00421-008-0950-0DOI Listing
March 2009

Endoscopic anatomy of the fourth ventricle.

J Neurosurg 2008 Sep;109(3):530-5

Department of Neurosurgery, Treviso Hospital, Italy.

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https://thejns.org/view/journals/j-neurosurg/109/3/article-p
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http://dx.doi.org/10.3171/JNS/2008/109/9/0530DOI Listing
September 2008

Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids.

J Neurosci Res 2008 Nov;86(15):3331-7

Department of Neuroscience and Biomedical Technologies, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1002/jnr.21773DOI Listing
November 2008

Hippocampal remodelling after MDMA neurotoxicity: a single case study.

World J Biol Psychiatry 2009 ;10(4 Pt 3):961-8

Department of Neurosciences, Psychiatric Clinic, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1080/15622970701870933DOI Listing
March 2010

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids.

Invest Ophthalmol Vis Sci 2008 Feb;49(2):671-6

Dipartimento di Biologia Evoluzionistica Sperimentale, Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1167/iovs.07-0880DOI Listing
February 2008

Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease.

Muscle Nerve 2008 Mar;37(3):350-7

E. Medea Scientific Institute, Conegliano Research Centre, via Costa Alta 37, 31015 Conegliano (TV), Italy.

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http://dx.doi.org/10.1002/mus.20937DOI Listing
March 2008

Endoscopic anatomy of the cerebral aqueduct.

Neurosurgery 2007 Sep;61(3 Suppl):1-5; discussion 5-6

Neurosurgical Department, Treviso Hospital, Padova University, Treviso, Italy.

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http://dx.doi.org/10.1227/01.neu.0000289705.64931.0cDOI Listing
September 2007

Severe head injury in early infancy: analysis of causes and possible predictive factors for outcome.

Childs Nerv Syst 2007 Aug 24;23(8):873-80. Epub 2007 Mar 24.

Neurosurgery Department, Padova University, Cà Foncello Hospital, 31100 Treviso, Italy.

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http://dx.doi.org/10.1007/s00381-007-0314-9DOI Listing
August 2007

Cavernoma of the foramen of Monro. Case report and review of the literature.

Neurosurg Focus 2006 Jul 15;21(1):e13. Epub 2006 Jul 15.

Neurosurgical Unit, Treviso Hospital, Padua University, Treviso, Italy.

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http://dx.doi.org/10.3171/foc.2006.21.1.14DOI Listing
July 2006

Aquaporin(s) expression in choroid plexus tumours.

Pediatr Neurosurg 2006 ;42(4):228-33

Neurosurgery Unit, Treviso Hospital, Treviso, Italy.

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http://dx.doi.org/10.1159/000092359DOI Listing
July 2006

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.

Brain 2006 Jul 2;129(Pt 7):1710-9. Epub 2006 May 2.

IRCCS E. Medea, Laboratory of Molecular Biology, Bosisio Parini Lecco, Italy.

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http://dx.doi.org/10.1093/brain/awl104DOI Listing
July 2006

Aquaporin 1 expression in cystic hemangioblastomas.

Neurosci Lett 2006 Jan 21;392(3):178-80. Epub 2005 Nov 21.

Department of Neurosurgery, Treviso Regional Hospital, University of Padova, Italy.

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http://dx.doi.org/10.1016/j.neulet.2005.09.083DOI Listing
January 2006

Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.

J Clin Invest 2005 Nov;115(11):3026-34

Dulbecco Telethon Institute and Department of Pharmacology, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1172/JCI24694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1265857PMC
November 2005

Neuroendoscopic aspiration of hematocephalus totalis: technical note.

Neurosurgery 2005 Oct;57(4 Suppl):E409; discussion E409

Department of Neuroscience, Treviso Hospital, Treviso, Italy.

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http://dx.doi.org/10.1227/01.neu.0000176702.26810.b7DOI Listing
October 2005