Roberto Del Bo

Roberto Del Bo

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Roberto Del Bo

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Value Of Insoluble PABPN1 Accumulation In The Diagnosis Of Oculopharyngeal Muscular Dystrophy.

Eur J Neurol 2019 Nov 26. Epub 2019 Nov 26.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Department of Neuroscience, Milano, Italy.

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http://dx.doi.org/10.1111/ene.14131DOI Listing
November 2019

Syncope and autonomic failure in a middle-aged man.

Intern Emerg Med 2019 03 15;14(2):271-274. Epub 2018 May 15.

Department of Internal Medicine, IRCCS Ca' Granda Foundation, University of Milan, Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s11739-018-1871-5DOI Listing
March 2019

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.04.006DOI Listing
June 2018

A case report with the peculiar concomitance of 2 different genetic syndromes.

Medicine (Baltimore) 2016 Dec;95(49):e5567

aNeuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan bAzienda Ospedaliera di Desio e Vimercate, Neurology Unit, Desio cPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dDino Ferrari Centre, Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1097/MD.0000000000005567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266037PMC
December 2016

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

Hum Mol Genet 2016 10 9;25(19):4266-4281. Epub 2016 Aug 9.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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http://hmg.oxfordjournals.org/content/early/2016/08/08/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw258DOI Listing
October 2016

Mutational analysis of COQ2 in patients with MSA in Italy.

Neurobiol Aging 2016 09 7;45:213.e1-213.e2. Epub 2016 Jun 7.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.05.022DOI Listing
September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

J Neurol Sci 2015 Sep 29;356(1-2):7-18. Epub 2015 May 29.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.05.033DOI Listing
September 2015

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

BMC Neurol 2015 Sep 24;15:172. Epub 2015 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12883-015-0428-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941PMC
September 2015

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Brain 2015 Aug 8;138(Pt 8):e372. Epub 2015 Jan 8.

1 Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy

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http://brain.oxfordjournals.org/content/brain/early/2015/01/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awu384DOI Listing
August 2015

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.

Sci Adv 2015 Mar 13;1(2):e1500078. Epub 2015 Mar 13.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, and Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1126/sciadv.1500078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643829PMC
March 2015

The brain is hypothermic in patients with mitochondrial diseases.

J Cereb Blood Flow Metab 2014 May 12;34(5):915-20. Epub 2014 Mar 12.

1] Department of Neurological Sciences, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy [2] Magnetic Resonance Spectroscopy Center, IRCCS Ca' Granda-Ospedale Maggiore Policlinico Foundation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/jcbfm.2014.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013774PMC
May 2014

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

J Neurol Sci 2012 Apr 22;315(1-2):146-9. Epub 2011 Dec 22.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2011.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002PMC
April 2012

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Mar 3;33(3):630.e1-2. Epub 2011 Dec 3.

Department of Neurology and Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.025DOI Listing
March 2012

Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site.

Pediatr Neurol 2011 Nov;45(5):292-9

Neuromuscular Unit, Department of Neurorehabilitation, Istituto di Ricerca e Cura a Carattere Scientifico Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200430PMC
November 2011

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

J Neurol 2011 Sep 12;258(9):1610-23. Epub 2011 Mar 12.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-011-5979-zDOI Listing
September 2011

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

J Child Neurol 2011 Jul 22;26(7):876-80. Epub 2011 Mar 22.

Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy.

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http://dx.doi.org/10.1177/0883073810390038DOI Listing
July 2011

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.

Case Rep Neurol 2011 Feb 23;3(1):62-8. Epub 2011 Feb 23.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1159/000324925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072196PMC
February 2011

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

Neuromuscul Disord 2009 Oct 12;19(10):692-5. Epub 2009 Aug 12.

Department of Pediatric Neurology, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2009.07.006DOI Listing
October 2009

Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1).

J Neurosci 2009 Sep;29(38):11761-71

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Ospedale Maggiore Policlinico, Italy.

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http://dx.doi.org/10.1523/JNEUROSCI.2734-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666655PMC
September 2009

VEGF genetic variability is associated with increased risk of developing Alzheimer's disease.

J Neurol Sci 2009 Aug 9;283(1-2):66-8. Epub 2009 Mar 9.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2009.02.318DOI Listing
August 2009

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

Neurobiol Aging 2009 May 20;30(5):842-4. Epub 2007 Sep 20.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Padiglione Ponti. Via F. Sforza 35, 20122 Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.08.008DOI Listing
May 2009

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.

Neurobiol Aging 2009 May 24;30(5):752-8. Epub 2007 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Via F. Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.08.009DOI Listing
May 2009

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.

J Neurol Sci 2009 Jan 8;276(1-2):170-4. Epub 2008 Nov 8.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2008.09.030DOI Listing
January 2009

Role of VEGF gene variability in longevity: a lesson from the Italian population.

Neurobiol Aging 2008 Dec 15;29(12):1917-22. Epub 2007 Jun 15.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Padiglione Ponti, Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.05.003DOI Listing
December 2008

Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.

Nucleic Acids Res 2008 Oct 16;36(18):5872-81. Epub 2008 Sep 16.

Department of Molecular Cell Therapy, Center for Biotechnology and Biomedicine, Universität Leipzig, Deutscher Platz 5, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1093/nar/gkn592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566888PMC
October 2008

Absence of angiogenic genes modification in Italian ALS patients.

Neurobiol Aging 2008 Feb 17;29(2):314-6. Epub 2006 Nov 17.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2006.10.008DOI Listing
February 2008

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

Neurogenetics 2007 Nov 24;8(4):301-5. Epub 2007 Aug 24.

Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy.

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http://dx.doi.org/10.1007/s10048-007-0095-zDOI Listing
November 2007

Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice.

Ann Neurol 2007 Jul;62(1):81-92

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1002/ana.21152DOI Listing
July 2007

Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression.

Exp Neurol 2007 Jun 28;205(2):547-62. Epub 2007 Mar 28.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, Padiglione Ponti, Milan, Italy.

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http://dx.doi.org/10.1016/j.expneurol.2007.03.021DOI Listing
June 2007

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

Neurotoxicology 2007 May 20;28(3):698-701. Epub 2007 Jan 20.

Centro per il Morbo di Parkinson, Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Fondazione I.R.C.C.S., Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1016/j.neuro.2007.01.004DOI Listing
May 2007

Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model.

Brain 2007 May 17;130(Pt 5):1289-305. Epub 2007 Apr 17.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1093/brain/awm043DOI Listing
May 2007

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.

Neurobiol Aging 2006 May 15;27(5):770.e1-770.e5. Epub 2005 Aug 15.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Padiglione Ponti, Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2005.05.025DOI Listing
May 2006

Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity.

Stem Cells 2006 Apr 17;24(4):975-85. Epub 2005 Nov 17.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, Istituto di Ricovero e Cura a Carattere, Scientifco Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Italy.

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http://dx.doi.org/10.1634/stemcells.2005-0217DOI Listing
April 2006

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

Hum Mol Genet 2006 Jan 8;15(2):167-87. Epub 2005 Dec 8.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddi446DOI Listing
January 2006

Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells.

FASEB J 2005 Nov 8;19(13):1860-2. Epub 2005 Sep 8.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation, Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1096/fj.05-4170fjeDOI Listing
November 2005

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.

Brain 2005 Aug 23;128(Pt 8):1911-20. Epub 2005 Jun 23.

Department of Neurological Sciences, Centro Dino Ferrari, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Italy.

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http://dx.doi.org/10.1093/brain/awh519DOI Listing
August 2005

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients.

Neurobiol Aging 2005 Jun;26(6):789-94

Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2004.07.003DOI Listing
June 2005

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

Ann Neurol 2005 Mar;57(3):373-80

Department of Neurological Sciences, Dino Ferrari Centre and Centre of Excellence on Neurodegenerative Diseases, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1002/ana.20390DOI Listing
March 2005

Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues.

Brain 2004 Nov 6;127(Pt 11):2518-32. Epub 2004 Oct 6.

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh273DOI Listing
November 2004

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Hum Mutat 2003 Dec;22(6):498-9

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milano, Italy.

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http://dx.doi.org/10.1002/humu.9203DOI Listing
December 2003

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.

Eur J Hum Genet 2003 Nov;11(11):896-8

Centro Dino Ferrari, Centro di eccellenza per le malattie neuro-degenerative, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201056DOI Listing
November 2003

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study.

Neurobiol Aging 2003 Oct;24(6):829-38

Centro Dino Ferrari, Centro di Eccellenza per le Malattie Neurodegenerative, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Via F. Sforza, 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/s0197-4580(02)00233-6DOI Listing
October 2003

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

Muscle Nerve 2003 Jul;28(1):113-7

Dipartimento di Scienze Neurologiche, Centro Dino Ferrari, Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, Milano 20122, Italy.

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http://doi.wiley.com/10.1002/mus.10391
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http://dx.doi.org/10.1002/mus.10391DOI Listing
July 2003

Altered glutamate uptake in peripheral tissues from Down syndrome patients.

Neurosci Lett 2003 Jun;343(2):73-6

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

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http://dx.doi.org/10.1016/s0304-3940(03)00260-xDOI Listing
June 2003

A collection of 33 novel human mtDNA homoplasmic variants.

Hum Mutat 2002 Nov;20(5):409

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milan, Italy.

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http://dx.doi.org/10.1002/humu.9079DOI Listing
November 2002

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

J Neurol Sci 2002 Oct;202(1-2):85-91

Department of Neurological Sciences, Centro Dino Ferrari, Padiglione Ponti, University of Milan, IRCCS Ospedale Maggiore Policlinico, 20122, Via F Sforza, 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/s0022-510x(02)00247-2DOI Listing
October 2002

A Quantitative Description of Low- and High-threshold Ca2+ Spikes in Rat Sensory Neurons: A Perforated-patch Study.

Eur J Neurosci 1992 ;4(8):723-732

Dipartimento di Fisiologia e Biochimica Generali, Università degli Studi, I-20133 Milan, Italy.

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http://dx.doi.org/10.1111/j.1460-9568.1992.tb00181.xDOI Listing
January 1992