Francesca Gualandi

Francesca Gualandi

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Francesca Gualandi

Publications by authors named "Francesca Gualandi"

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Ivabradine in Cancer Treatment-Related Left Ventricular Dysfunction.

Chemotherapy 2018 6;63(6):315-320. Epub 2019 Mar 6.

Cardiovascular Disease Unit, San Martino Policlinic Hospital, Genoa, Italy,

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http://dx.doi.org/10.1159/000495576DOI Listing
May 2019

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

Cardiology 2017;137(4):256-260. Epub 2017 May 12.

Medical Genetics Logistic Unit (UOL), Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1159/000471792DOI Listing
August 2018

A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics.

Cardiology 2017;138(2):69-72. Epub 2017 Jun 13.

Cardiovascular Istitute, Azienda Ospedaliera Universitaria di Ferrara, Universitaria di Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1159/000475461DOI Listing
August 2018

De-Escalation and Discontinuation of Empirical Antibiotic Treatment in a Cohort of Allogeneic Hematopoietic Stem Cell Transplantation Recipients during the Pre-Engraftment Period.

Biol Blood Marrow Transplant 2018 08 22;24(8):1721-1726. Epub 2018 Mar 22.

Division of Infectious Diseases, Department of Health Science (DISSAL), Ospedale Policlinico San Martino-IRCCS per l'Oncologia, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2018.03.018DOI Listing
August 2018

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

J Headache Pain 2017 Dec 7;18(1):63. Epub 2017 Jun 7.

Genomic and Post-Genomic Center, "C. Mondino" National Neurological Institute, Mondino 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1186/s10194-017-0770-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462664PMC
December 2017

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.

Clin Neurol Neurosurg 2017 12 5;163:15-17. Epub 2017 Oct 5.

UOL di Genetica Medica, Dipartimento di Riproduzione ed Accrescimento e Dipartimento di Scienze Mediche, Università di Ferrara, via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2017.09.012DOI Listing
December 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Biochim Biophys Acta Gene Regul Mech 2017 Nov 1;1860(11):1138-1147. Epub 2017 Sep 1.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; CIRI Health Sciences & Technologies (HST), Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2017.08.010DOI Listing
November 2017

Good tolerability of high dose colistin-based therapy in patients with haematological malignancies.

Infection 2017 Aug 28;45(4):505-511. Epub 2017 Mar 28.

Division of Infectious Diseases, Department of Health Sciences (DISSAL), IRCCS AOU San Martino-IST, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1007/s15010-017-1010-7DOI Listing
August 2017

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Neuromuscul Disord 2016 10 16;26(10):662-665. Epub 2016 Aug 16.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.007DOI Listing
October 2016

Huntington's disease-like presentation in Spinocerebellar ataxia type 12.

Mov Disord 2016 08 1;31(8):1248-9. Epub 2016 Jun 1.

Neurological Unit, Neuroscience Department, University-Hospital Arcispedale S. Anna, Cona, Italy.

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http://dx.doi.org/10.1002/mds.26679DOI Listing
August 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

A Family with γ-Thalassemia and High Hb A2 Levels.

Hemoglobin 2016 Jun;40(3):187-90

a Dipartimento di Riproduzione e Accressimento e Dipartimento di Scienze Mediche, Unità Operativa Logistica (UOL) di Genetica Medica, Ospedale Universitario S. Anna , Ferrara , Italia and.

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http://dx.doi.org/10.3109/03630269.2016.1148613DOI Listing
June 2016

Human mesenchymal stem cells target adhesion molecules and receptors involved in T cell extravasation.

Stem Cell Res Ther 2015 Dec 10;6:245. Epub 2015 Dec 10.

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, Corso Europa 26, 16132, Genova, Italy.

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http://dx.doi.org/10.1186/s13287-015-0222-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676115PMC
December 2015

Low intensity lympho-ablative regimen followed by autologous hematopoietic stem cell transplantation in severe forms of multiple sclerosis: A MRI-based clinical study.

Mult Scler 2015 Oct 12;21(11):1423-30. Epub 2015 Jan 12.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health; University of Genova; Italy/Department of Health Sciences, University of Genova, Italy

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http://dx.doi.org/10.1177/1352458514564484DOI Listing
October 2015

Paternal germline mosaicism in collagen VI related myopathies.

Eur J Paediatr Neurol 2015 Sep 30;19(5):533-6. Epub 2015 Apr 30.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University-Hospital S'Anna, Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.04.002DOI Listing
September 2015

Prevalence of congenital muscular dystrophy in Italy: a population study.

Neurology 2015 Mar 4;84(9):904-11. Epub 2015 Feb 4.

From the Departments of Paediatrics and Neurology (A.G., F.B., G.T., M. Monforte, E.R., M.P., E.M.), Catholic University, Rome; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., G.T., E.B.), Department of Neurosciences, Bambino Gesù Children's Hospital, Rome; Pediatric Neurology and Neuromuscular Disease and Immunology Unit (I.M., M. Mora, L.M.), Istituto Neurologico Besta, Milan; Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina; Neuromuscular Disease Unit (C.B., C.M.), G. Gaslini Institute, Genoa; Department of Neurosciences (E.P.), University of Padua, Italy; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit (G.A., R.B., F.M.S.), Stella Maris Institute, Pisa; Department of Neurological Sciences (F. Magri, G.P.C.), IRCCS Ospedale Maggiore Policlinico, University of Milan; Child Neurology and Psychiatry Unit (A.B.), IRCCS C. Mondino Foundation; Neuromuscular and Rare Diseases Unit (M. Moggio), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Milano; Child Neurology and Psychiatry Unit (A.P.), IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna; Cardiomiologia e Genetica Medica (R.P., L.P.), Dipartimento di Medicina Sperimentale Seconda Università di Napoli; Neuromuscular Center (T.M.), S.G. Battista Hospital, University of Turin; Centro Nemo (K.G.), Milan; Neuromuscular Unit (M.V.), Nigrisoli Hospital, Bologna; Section of Medical Genetics (F.G., A.F.), Department of Experimental and Diagnostic Medicine, Ferrara, Italy; and Dubowitz Neuromuscular Centre (F. Muntoni), UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351663PMC
March 2015

Autologous hematopoietic stem cell transplantation in multiple sclerosis: a phase II trial.

Neurology 2015 Mar 11;84(10):981-8. Epub 2015 Feb 11.

From the MRI Center for Neurological Diseases (L.R.), Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (G.L.M., D.C.), and the Biostatistic Unit, Department of Health Sciences (M.P.S., L.R.), University of Genova; the Bone Marrow Transplantation Unit (F.G.), S. Martino Hospital, Genova, Italy; the Service of Neurology (A.S.) and the Hematology Department (E.C.), Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer, Hospital Clínic, University of Barcelona, Spain; the Department of Neurosciences (E.M.) and the Bone Marrow Transplantation Unit, Department of Hematology and Oncology (A.D.), University of Modena and Reggio Emilia; the MS Center, Department of Neuroscience, Imaging and Clinical Sciences (A.L.), University Gabriele D'Annunzio, Chieti-Pescara; the Bone Marrow Transplant Center, Department of Hematology (P.D.B.), Spirito Santo Hospital, Pescara; the Multiple Sclerosis Unit Ospedale Papa Giovanni XXIII (M.R.R.), Bergamo; the Hematology and Bone Marrow Transplant Unit Azienda Ospedaliera Papa Giovanni XXIII (A.R.), Bergamo; Division Neurology 1 (M.P.A.) and Division Neurology 2, Drug and Child Health (L.M., L.V.), Department of Neurosciences, and Bone Marrow Transplantation Unit (M.D.G., R.S.), Careggi University Hospital, University of Firenze; the Neuroimaging Research Unit (M.F.), Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan; the Department of Medical and Surgical Sciences (U.A.), Magna Graecia University of Catanzaro; the Advanced Cellular Therapy Center IRCCS "Istituto Tumori Giovanni Paolo II" Bari (P.I.), Italy; and the Internal Medicine and Vascular Disease Unit (D.F.), Assistance Publique Hospitaux de Paris (AP-HP) INSERM U 796, Paris 7 University, Saint-Louis Hospital, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000001329DOI Listing
March 2015

Detecting collagen VI in Bethlem myopathy.

J Biol Chem 2015 Mar;290(12):8011

SC Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy.

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http://dx.doi.org/10.1074/jbc.L115.639088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367299PMC
March 2015

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ann Neurol 2015 Feb 17;77(2):206-14. Epub 2014 Dec 17.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.

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http://dx.doi.org/10.1002/ana.24303DOI Listing
February 2015

Unmanipulated haploidentical transplants compared with other alternative donors and matched sibling grafts.

Biol Blood Marrow Transplant 2014 Oct 5;20(10):1573-9. Epub 2014 Jun 5.

Division of Hematology and Marrow Transplantation, Istituto Ricerca Carattere Scientifico (IRCCS), San Martino Istituto Tumori (IST), Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2014.05.029DOI Listing
October 2014

Genetic counseling for women referred for advanced maternal age: a telegenetic approach.

Genet Med 2014 Oct;16(10):795

1] Section of Medical Genetics and Microbiology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy [2] Medical Genetics Unit, Department of Reproduction and Growth, S. Anna University Hospital, Ferrara, Italy.

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http://dx.doi.org/10.1038/gim.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189378PMC
October 2014

CD34 selected cells for the treatment of poor graft function after allogeneic stem cell transplantation.

Biol Blood Marrow Transplant 2014 Sep 24;20(9):1440-3. Epub 2014 May 24.

Divisione di Ematologia e Trapianto di Midollo Osseo, IRCCS AOU San Martino-IST, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2014.05.016DOI Listing
September 2014

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Nat Med 2014 09 10;20(9):992-1000. Epub 2014 Aug 10.

1] The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA. [2] Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA. [3] Department of Neurology, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1038/nm.3628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165597PMC
September 2014

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Neurogenetics 2013 Nov 24;14(3-4):247-50. Epub 2013 Aug 24.

Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-013-0371-zDOI Listing
November 2013

The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.

Neuromuscul Disord 2013 Jan 30;23(1):4-14. Epub 2012 Oct 30.

Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy.

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http://dx.doi.org/10.1016/j.nmd.2012.09.002DOI Listing
January 2013

Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

J Neuropathol Exp Neurol 2012 Oct;71(10):894-906

Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1097/NEN.0b013e31826c6f7bDOI Listing
October 2012

Galactomannan testing might be useful for early diagnosis of fusariosis.

Diagn Microbiol Infect Dis 2012 Apr 26;72(4):367-9. Epub 2012 Jan 26.

Division of Infectious Diseases, San Martino University Hospital, 16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.diagmicrobio.2011.12.009DOI Listing
April 2012

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Hum Mutat 2012 Mar 25;33(3):572-81. Epub 2012 Jan 25.

Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1002/humu.22017DOI Listing
March 2012

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

Oxid Med Cell Longev 2011 17;2011:139194. Epub 2011 Oct 17.

Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy.

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http://dx.doi.org/10.1155/2011/139194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199070PMC
February 2012

Congenital muscular dystrophies: a brief review.

Semin Pediatr Neurol 2011 Dec;18(4):277-88

Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Diseases and Department of Neurosciences, IRCCS-Children's Hospital Bambino Gesù, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091110009
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http://dx.doi.org/10.1016/j.spen.2011.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332154PMC
December 2011

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.

Muscle Nerve 2011 Jul 12;44(1):80-4. Epub 2011 Apr 12.

Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universitá di Ferrara, Ferrara, Italy. gdf@unife

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http://dx.doi.org/10.1002/mus.21999DOI Listing
July 2011

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Am J Med Genet A 2011 May 7;155A(5):1096-101. Epub 2011 Apr 7.

Genetica Medica, Azienda Ospedaliero Universitaria di Ferrara, Università di Ferrara, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33962DOI Listing
May 2011

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

J Neuropathol Exp Neurol 2010 Mar;69(3):246-52

Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1097/NEN.0b013e3181d0f7d5DOI Listing
March 2010

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Hum Mol Genet 2009 Mar 5;18(6):1058-64. Epub 2009 Jan 5.

Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.

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https://hmg.oxfordjournals.org/content/18/6/1058.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn441
Publisher Site
http://dx.doi.org/10.1093/hmg/ddn441DOI Listing
March 2009

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

Neuromuscul Disord 2007 Dec 7;17(11-12):913-8. Epub 2007 Sep 7.

Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1016/j.nmd.2007.07.005DOI Listing
December 2007

Human mesenchymal stem cells promote survival of T cells in a quiescent state.

Stem Cells 2007 Jul 29;25(7):1753-60. Epub 2007 Mar 29.

Neuroimmunology Unit, Department of Neurosciences, Ophthalmology and Genetics, University of Genoa, Via De Toni 5, 16132 Genoa, Italy.

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http://doi.wiley.com/10.1634/stemcells.2007-0068
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http://dx.doi.org/10.1634/stemcells.2007-0068DOI Listing
July 2007

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.

Proc Natl Acad Sci U S A 2007 Jan 10;104(3):991-6. Epub 2007 Jan 10.

Department of Biomedical Sciences and Institute of Neuroscience, Consiglio Nazionale delle Ricerche, University of Padua, Viale Giuseppe Colombo 3, I-35121 Padua, Italy.

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http://dx.doi.org/10.1073/pnas.0610270104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1783427PMC
January 2007