Isabella Moroni

Isabella Moroni

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Isabella Moroni

Isabella Moroni

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Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 Sep 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Acta Neurol Scand 2019 Sep 6;140(3):184-193. Epub 2019 Jun 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/ane.13130DOI Listing
September 2019

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Neuromuscul Disord 2019 May 10;29(5):376-380. Epub 2019 Apr 10.

Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.04.001DOI Listing
May 2019

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Eur J Med Genet 2018 Dec 4. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183042
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http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI Listing
December 2018

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Eur J Paediatr Neurol 2018 Mar 16;22(2):332-335. Epub 2017 Dec 16.

Child Neurology Unit, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.11.012DOI Listing
March 2018

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.

Neuromuscul Disord 2017 Nov 14;27(11):1029-1037. Epub 2017 Jul 14.

Biomedical Technology Department, IRCCS Don Carlo Gnocchi Foundation Onlus, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2017.07.003DOI Listing
November 2017

Thiamine-responsive disease due to mutation of : Importance of avoiding misdiagnosis.

Neurology 2017 08 26;89(8):870-871. Epub 2017 Jul 26.

From the Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004270DOI Listing
August 2017

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in gene.

Acta Myol 2017 Mar;36(1):28-32

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Foundation IRCCS Neurological Institute "Carlo Besta", Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479107PMC
March 2017

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

J Peripher Nerv Syst 2016 09;21(3):142-9

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592964PMC
September 2016

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Hum Mutat 2016 09 11;37(9):898-903. Epub 2016 Jul 11.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.

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http://dx.doi.org/10.1002/humu.23033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486PMC
September 2016

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Eur J Pediatr 2016 Aug 16;175(8):1113-8. Epub 2016 Jan 16.

Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-015-2685-3DOI Listing
August 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochim Biophys Acta 2016 Aug 8;1857(8):1326-1335. Epub 2016 Mar 8.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.022DOI Listing
August 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 2016

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Neurogenetics 2016 07 2;17(3):191-5. Epub 2016 Jun 2.

Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Via Salvador Allende, 84081, Baronissi, Salerno, Italy.

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http://dx.doi.org/10.1007/s10048-016-0488-yDOI Listing
July 2016

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Neurol Sci 2016 Jun 7;37(6):973-7. Epub 2016 Jan 7.

Division of Child Neurology, IRCCS-Fondazione Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-015-2466-9DOI Listing
June 2016

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Curr Neurol Neurosci Rep 2016 Jun;16(6):54

Child Neurology Department, Neurological Institute C. Besta Foundation IRCCS, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11910-016-0656-3DOI Listing
June 2016

Bone and Spinal Muscular Atrophy.

Bone 2015 Oct 5;79:116-20. Epub 2015 Jun 5.

Developmental Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S87563282150022
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http://dx.doi.org/10.1016/j.bone.2015.05.039DOI Listing
October 2015

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

JIMD Rep 2015 13;22:115-20. Epub 2015 Mar 13.

Unit of Child Neurology, The Foundation "Carlo Besta" Neurological Institute (IRCCS), Via Celoria 11, 20133, Milan, Italy,

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http://dx.doi.org/10.1007/8904_2015_419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486273PMC
July 2015

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Muscle Nerve 2015 Apr 6;51(4):620-1. Epub 2015 Feb 6.

Child Neurology Unit, Foundation IRCCS "Carlo Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1002/mus.24582DOI Listing
April 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

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102623DOI Listing
December 2014

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Front Genet 2014 20;5:412. Epub 2014 Nov 20.

Unit of Child Neurology, Istituto Neurologico "Carlo Besta," Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238403PMC
December 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Muscle Nerve 2014 Jul 5;50(1):145-7. Epub 2014 May 5.

Child Neurology Unit, Foundation IRCCS "Carlo Besta" Neurological Institute, Milan, Italy.

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http://doi.wiley.com/10.1002/mus.24205
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http://dx.doi.org/10.1002/mus.24205DOI Listing
July 2014

Peripheral neuropathy in mitochondrial disorders.

Lancet Neurol 2013 Oct;12(10):1011-24

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70158-3DOI Listing
October 2013

Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.

J Neuroeng Rehabil 2013 Jul 2;10:65. Epub 2013 Jul 2.

Biomedical Technology Department, Don Carlo Gnocchi Foundation Onlus IRCCS, Milan, Italy.

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http://dx.doi.org/10.1186/1743-0003-10-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707823PMC
July 2013

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Neuromuscul Disord 2012 Dec 21;22(12):1075-82. Epub 2012 Jul 21.

Unit of Neuromuscular Disorders, Rehabilitation and Laboratory of Biochemistry, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966120015
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http://dx.doi.org/10.1016/j.nmd.2012.05.007DOI Listing
December 2012

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Mol Genet Metab 2012 Nov 7;107(3):403-8. Epub 2012 Sep 7.

Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490101PMC
November 2012

Cortical myoclonus in childhood and juvenile onset Huntington's disease.

Parkinsonism Relat Disord 2012 Jul 10;18(6):794-7. Epub 2012 Apr 10.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2012.03.011DOI Listing
July 2012

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

Dev Med Child Neurol 2012 Apr 8;54(4):376-9. Epub 2011 Dec 8.

Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04167.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04167.xDOI Listing
April 2012

Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.

J Peripher Nerv Syst 2011 Sep;16(3):237-242

Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00357.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917107PMC
September 2011

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Neuromuscul Disord 2009 Jul 4;19(7):476-80. Epub 2009 Jun 4.

Division of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.04.014DOI Listing
July 2009

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Muscle Nerve 2009 Jun;39(6):845-8

Division of Neuromuscular Diseases and Neuroimmunology, Muscle Cell Biology Laboratory, Foundation Neurological Institute C. Besta, Via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1002/mus.21271DOI Listing
June 2009

Effects of riboflavin in children with complex II deficiency.

Brain Dev 2006 Oct 5;28(9):576-81. Epub 2006 Jun 5.

Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.braindev.2006.04.001DOI Listing
October 2006

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

J Neurol Sci 2006 Apr 4;243(1-2):47-51. Epub 2006 Jan 4.

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unita' Operativa Neurologia, Fondazione I.R.C.C.S. Ospedale Maggiore Policlinico- Mangiagalli e Regina Elena, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2005.11.024DOI Listing
April 2006

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Ann Neurol 2002 Aug;52(2):227-31

Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

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http://dx.doi.org/10.1002/ana.10246DOI Listing
August 2002