Roberta Battini

Roberta Battini

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Roberta Battini

Roberta Battini

Publications by authors named "Roberta Battini"

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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Mol Genet Metab 2019 Jun 10;127(2):132-137. Epub 2019 May 10.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.05.004DOI Listing
June 2019

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Child Neurol Open 2019 12;6:2329048X19828881. Epub 2019 Feb 12.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1177/2329048X19828881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376510PMC
February 2019

Four years follow up of ACY1 deficient patient and pedigree study.

Brain Dev 2018 Aug 10;40(7):570-575. Epub 2018 Apr 10.

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1016/j.braindev.2018.03.009DOI Listing
August 2018

Inter and intra-rater reliability and minimal detectable difference of Movement Disorder-Childhood Rating Scale.

Eur J Phys Rehabil Med 2018 Feb 13;54(1):48-57. Epub 2017 Jul 13.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy -

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http://dx.doi.org/10.23736/S1973-9087.17.04661-5DOI Listing
February 2018

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Dev Med Child Neurol 2017 08 25;59(8):815-821. Epub 2017 May 25.

Molecular Medicine Unit and Child Neurology, IRCCS Fondazione Stella Maris, Pisa, Italy.

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http://doi.wiley.com/10.1111/dmcn.13473
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http://dx.doi.org/10.1111/dmcn.13473DOI Listing
August 2017

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Eur J Paediatr Neurol 2017 Jul 15;21(4):671-677. Epub 2017 Apr 15.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.004DOI Listing
July 2017

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.

Orphanet J Rare Dis 2017 02 2;12(1):21. Epub 2017 Feb 2.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128, Pisa, Italy.

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http://dx.doi.org/10.1186/s13023-017-0577-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289057PMC
February 2017

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscul Disord 2016 Apr-May;26(4-5):292-9. Epub 2016 Feb 17.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862961PMC
January 2017

EDITORIAL.

Acta Myol 2016 12;35(3):121

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416738PMC
December 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

Res Dev Disabil 2015 Oct-Nov;45-46:168-77. Epub 2015 Aug 6.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Calambrone, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2015.07.025DOI Listing
August 2016

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.

Eur J Med Genet 2016 May 11;59(5):278-82. Epub 2016 Mar 11.

IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.03.003DOI Listing
May 2016

Movement Disorder-Childhood Rating Scale: A Sensitive Tool to Evaluate Movement Disorders.

Pediatr Neurol 2015 Jul 27;53(1):73-7. Epub 2015 Mar 27.

Department of Developmental Neuroscience, Istituto Di Ricovero e Cura a Carattere Scientifico Fondazione Stella Maris, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.02.014DOI Listing
July 2015

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Pediatr Neurol 2015 May 7;52(5):548-51. Epub 2015 Feb 7.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.018DOI Listing
May 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

Infantile-Onset Pompe Disease: The Care Beyond the Cure.

J Neuromuscul Dis 2015;2(s1):S58-S59

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Italy.

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January 2015

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.

JIMD Rep 2014 6;16:81-7. Epub 2014 Jul 6.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128, Pisa, Italy,

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http://link.springer.com/10.1007/8904_2014_323
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http://dx.doi.org/10.1007/8904_2014_323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221304PMC
November 2014

Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment.

Eur J Paediatr Neurol 2014 Nov 19;18(6):698-703. Epub 2014 Jun 19.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140010
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http://dx.doi.org/10.1016/j.ejpn.2014.06.004DOI Listing
November 2014

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Neuromuscul Disord 2013 Dec 1;23(12):1010-5. Epub 2013 Oct 1.

Molecular Medicine and Neuromuscular Lab, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.09.010DOI Listing
December 2013

Inborn errors of creatine metabolism and epilepsy.

Epilepsia 2013 Feb 13;54(2):217-27. Epub 2012 Nov 13.

Division of Child Neurology, Department of Paediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1111/epi.12020DOI Listing
February 2013

A proposed multidisciplinary approach for identifying feeding abnormalities in children with cerebral palsy.

J Child Neurol 2012 Jun 21;27(6):708-12. Epub 2011 Oct 21.

Department of Neuroscience, Otorhinolaryngology Division 1, University of Pisa and Cisanello Hospital, Pisa, Italy.

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http://dx.doi.org/10.1177/0883073811424083DOI Listing
June 2012

Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.

Muscle Nerve 2011 Nov 26;44(5):816-9. Epub 2011 Sep 26.

Department of Developmental Neuroscience and MR Laboratory, IRCCS Stella Maris, Viale del Tirreno 331, 56128 Calambrone, Pisa, Italy.

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http://doi.wiley.com/10.1002/mus.22181
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http://dx.doi.org/10.1002/mus.22181DOI Listing
November 2011

Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study.

Dev Med Child Neurol 2010 Sep 19;52(9):856-62. Epub 2010 Mar 19.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03621.xDOI Listing
September 2010

Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2).

Am J Med Genet A 2010 Feb;152A(2):490-4

Cytogenetics and Molecular Genetics Unit, Children Department, AOU Pisana, Ospedale S. Chiara, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33233DOI Listing
February 2010

RFT1 deficiency in three novel CDG patients.

Hum Mutat 2009 Oct;30(10):1428-34

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869400PMC
October 2009

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Hum Genet 2009 Aug;126(2):340

U.O. Citogenetica e Genetica Molecolare: Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.

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August 2009

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Hum Genet 2009 Aug;126(2):341

U.O. Citogenetica e Genetica Molecolare: Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.

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August 2009

Scale for evaluation of movement disorders in the first three years of life.

Pediatr Neurol 2009 Apr;40(4):258-64

Department of Developmental Neuroscience, Stella Maris Scientific Institute, Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.003DOI Listing
April 2009

Movement disorder-childhood rating scale: reliability and validity.

Pediatr Neurol 2008 Oct;39(4):259-65

Department of Developmental Neuroscience, Scientific Institute Stella Maris, Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.002DOI Listing
October 2008

Pre-symptomatic treatment of creatine biosynthesis defects.

Subcell Biochem 2007 ;46:167-81

University of Toronto, Department of Paediatrics, Division of Clinical and Metabolic Genetics, and Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON. M5G 1X8, Canada.

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August 2008

Daily salbutamol in young patients with SMA type II.

Neuromuscul Disord 2008 Jul 24;18(7):536-40. Epub 2008 Jun 24.

Department of Paediatric Neurology, Catholic University, Policlinico Gemelli Largo Gemelli, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.05.004DOI Listing
July 2008

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

Anal Biochem 2008 Apr 18;375(1):153-5. Epub 2008 Jan 18.

Department of Child Neurology and Psychiatry, University of Rome La Sapienza, 00185 Rome, Italy.

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http://dx.doi.org/10.1016/j.ab.2008.01.018DOI Listing
April 2008

Does the assessment of general movements without video observation reliably predict neurological outcome?

Eur J Paediatr Neurol 2007 Nov 11;11(6):362-7. Epub 2007 Apr 11.

Department of Developmental Neuroscience, Stella Maris Scientific Institute, Via dei Giacinti, 2, I 56018 Calambrone, Pisa, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980700053
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http://dx.doi.org/10.1016/j.ejpn.2007.03.003DOI Listing
November 2007

Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?

Ann Neurol 2007 Nov;62(5):493-503

Department of Developmental Neuroscience, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.21108DOI Listing
November 2007

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.

Clin Chim Acta 2006 Feb 28;364(1-2):180-7. Epub 2005 Sep 28.

Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza, Viale del Policlinico 155, 00161 Roma, Italy.

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http://dx.doi.org/10.1016/j.cca.2005.06.016DOI Listing
February 2006

Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency.

Anal Biochem 2005 Aug;343(2):356-8

Department of Developmental Neuroscience-IRCCS Stella Maris, University of Pisa, Pisa I-56018, Italy.

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http://dx.doi.org/10.1016/j.ab.2005.05.003DOI Listing
August 2005

HPLC assay for guanidinoacetate methyltransferase.

Anal Biochem 2004 Aug;331(1):189-91

Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1016/j.ab.2004.05.012DOI Listing
August 2004

Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance.

AJNR Am J Neuroradiol 2003 Nov-Dec;24(10):1958-66

U.O. di Neuroradiologia, Ospedale S. Chiara, Pisa, Italy. Istituto Scientifico Stella Maris, Pisa, Italy.

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January 2004

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

Clin Chem 2003 May;49(5):803-5

Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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May 2003

Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.

Arch Neurol 2003 Feb;60(2):268-72

Division of Child Neurology and Psychiatry, Instituto di Recovero e Cura a Carattere Scientifico Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1001/archneur.60.2.268DOI Listing
February 2003