Barbara Castellotti

Barbara Castellotti

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Barbara Castellotti

Barbara Castellotti

Publications by authors named "Barbara Castellotti"

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Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Neurology 2019 Aug 9;93(7):310-312. Epub 2019 Jul 9.

From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007951DOI Listing
August 2019

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Metab Brain Dis 2019 Jul 22. Epub 2019 Jul 22.

Pediatric Neurology Unit, V. Buzzi Children's Hospital, Via Castelvetro 32, 20154, Milan, Italy.

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http://dx.doi.org/10.1007/s11011-019-00464-7DOI Listing
July 2019

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Seizure 2019 Feb 8;65:106-108. Epub 2019 Jan 8.

Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183078
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http://dx.doi.org/10.1016/j.seizure.2019.01.005DOI Listing
February 2019

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia.

BMJ Case Rep 2018 Feb 14;2018. Epub 2018 Feb 14.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione "Istituto Neurologico C Besta", Milano, Italy.

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http://dx.doi.org/10.1136/bcr-2017-223390DOI Listing
February 2018

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Seizure 2017 Apr 6;47:71-73. Epub 2017 Mar 6.

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

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http://dx.doi.org/10.1016/j.seizure.2017.03.003DOI Listing
April 2017

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Hum Mutat 2017 03 5;38(3):260-264. Epub 2017 Jan 5.

Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23140DOI Listing
March 2017

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.

Neuropediatrics 2014 Oct 3;45(5):328-32. Epub 2014 Jun 3.

Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1055/s-0034-1378130DOI Listing
October 2014

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Pediatr Neurol 2014 Sep 4;51(3):430-3. Epub 2014 Jun 4.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.029DOI Listing
September 2014

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Neurol Sci 2012 Dec 22;33(6):1383-7. Epub 2011 Dec 22.

Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy.

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http://dx.doi.org/10.1007/s10072-011-0900-1DOI Listing
December 2012

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Neurobiol Aging 2012 Aug 16;33(8):1847.e15-21. Epub 2012 Mar 16.

Genetics of Neurodegenerative and Metabolic Disorders, Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.02.004DOI Listing
August 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

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Parkinsonism Relat Disord 2011 Jul 6;17(6):479-81. Epub 2011 May 6.

Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.03.015DOI Listing
July 2011

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

Neurogenetics 2008 Feb 18;9(1):33-40. Epub 2007 Dec 18.

Division of Biochemistry and Genetics, Fondazione IRCCS-Instituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-007-0111-3DOI Listing
February 2008

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Neurogenetics 2007 Nov 17;8(4):289-99. Epub 2007 Aug 17.

UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico "Carlo Besta", via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1007/s10048-007-0101-5DOI Listing
November 2007

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Epilepsia 2007 Sep 18;48(9):1686-1690. Epub 2007 Jul 18.

Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01173.xDOI Listing
September 2007