Publications by authors named "Barbara Garavaglia"

100Publications

The Role of VPS35 in the Pathobiology of Parkinson's Disease.

Cell Mol Neurobiol 2020 Apr 22. Epub 2020 Apr 22.

Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10571-020-00849-8DOI Listing
April 2020

Idiopathic brain calcification in a patient with hereditary hemochromatosis.

BMC Neurol 2020 Mar 30;20(1):113. Epub 2020 Mar 30.

Internal Medicine Unit and Centre for Hemochromatosis and Heredometabolic Liver Diseases, EuroBloodNet Referral Center for Iron Disorders, Policlinico, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy.

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http://dx.doi.org/10.1186/s12883-020-01689-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106592PMC
March 2020

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Neurol Genet 2020 Apr 20;6(2):e399. Epub 2020 Feb 20.

Department of Neuromuscular Diseases (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), UCL Queen Square Institute of Neurology; National Hospital for Neurology and Neurosurgery (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), Queen Square, London, UK; Department of Neurology and Neurosurgery (V.C., S.G.), Institute of Emergency Medicine, Chisinau, Republic of Moldova; Department of Neuroscience (M.C.), University of Padua, Italy; Northern Ireland Regional Genetics Service (G.R., P.J.M.), Belfast City Hospital, UK; Department of Neuroscience (A.B.), Interdisciplinary Center (IDC) Herzliya, Israel; Department of Paediatrics & Child Health (S.K., F.J., S.I., F.K., Z.Q.), Aga Khan University, Karachi, Pakistan; Department of Neurology (L.M.), Eastern Piedmont University, Novara, Italy; Department of Neurology (E.S., D.P.) and Department of Neuroradiology (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Clinical Neurology (N.B.), University of Nottingham, UK; Department of Clinical and Movement Neurosciences (B.B., K.P.B., N.W.W.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (B.B.), Heidelberg University Hospital, Germany; Reta Lila Weston Institute (A.L.), UCL Queen Square Institute of Neurology, London, UK; and Medical Genetics and Neurogenetics Unit (B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073457PMC
April 2020

Adult diagnosis of Cockayne syndrome.

Neurology 2019 11;93(19):854-855

From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008449DOI Listing
November 2019

DMT1 Expression and Iron Levels at the Crossroads Between Aging and Neurodegeneration.

Front Neurosci 2019 5;13:575. Epub 2019 Jun 5.

Section of Pharmacology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.3389/fnins.2019.00575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560079PMC
June 2019

Clinical and Biochemical Features in a Patient With Gene Alteration.

Front Genet 2018 7;9:625. Epub 2018 Dec 7.

Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.3389/fgene.2018.00625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292958PMC
December 2018

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Eur J Med Genet 2018 Oct 3;61(10):581-584. Epub 2018 Apr 3.

Molecular Neurogenetics, Foundation IRCCS Neurological Institute Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.011DOI Listing
October 2018

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Eur J Paediatr Neurol 2018 Mar 31;22(2):285-291. Epub 2018 Jan 31.

Molecular Neurogenetics Unit, IRCCS Foundation Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.013DOI Listing
March 2018

Diagnosis and treatment of pediatric onset isolated dystonia.

Eur J Paediatr Neurol 2018 Mar 17;22(2):238-244. Epub 2018 Jan 17.

Department of Paediatric Neurology, IRCCS Fondazione C. Besta, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173191
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http://dx.doi.org/10.1016/j.ejpn.2018.01.006DOI Listing
March 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

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Front Neurol 2017 21;8:385. Epub 2017 Aug 21.

Department of Biomedical and Specialistic Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, Ferrara University, Ferrara, Italy.

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http://dx.doi.org/10.3389/fneur.2017.00385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573443PMC
August 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

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Neurogenetics 2017 Jul 29;18(3):175-178. Epub 2017 Jun 29.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-017-0518-4DOI Listing
July 2017

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

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).

Front Genet 2017 17;8:18. Epub 2017 Feb 17.

Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute Carlo Besta Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2017.00018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314138PMC
February 2017

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

J Neurol 2017 Mar 24;264(3):586-588. Epub 2017 Jan 24.

Unit of Child Neurology and Psychiatry, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.

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http://dx.doi.org/10.1007/s00415-017-8393-3DOI Listing
March 2017

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Cerebellum 2017 06;16(3):742-745

Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s12311-017-0843-zDOI Listing
June 2017

The relevance of gender in Parkinson's disease: a review.

J Neurol 2017 Aug 4;264(8):1583-1607. Epub 2017 Jan 4.

Center for Neurodegenerative Diseases (CEMAND), Department of Medicine and Surgery, Neuroscience Section, University of Salerno, Salerno, 84131, Italy.

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http://dx.doi.org/10.1007/s00415-016-8384-9DOI Listing
August 2017

DYT2 screening in early-onset isolated dystonia.

Eur J Paediatr Neurol 2017 Mar 13;21(2):269-271. Epub 2016 Oct 13.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.10.001DOI Listing
March 2017

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

EMBO Mol Med 2016 10 4;8(10):1197-1211. Epub 2016 Oct 4.

Proteomics of Iron Metabolism Unit, Division of Neuroscience San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, Italy

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http://dx.doi.org/10.15252/emmm.201606391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048368PMC
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

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Parkinsonism Relat Disord 2016 09 1;30:81-2. Epub 2016 Jun 1.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.05.029DOI Listing
September 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

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

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

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Parkinsonism Relat Disord 2016 Feb 18;23:66-71. Epub 2015 Dec 18.

Molecular Neurogenetics Unit, IRCCS Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020153006
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http://dx.doi.org/10.1016/j.parkreldis.2015.12.012DOI Listing
February 2016

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

J Neurol Sci 2016 Jan 27;360:78-83. Epub 2015 Nov 27.

Institute of Cell Biology and Neurobiology, National Council of Research, 00015 Monterotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.11.050DOI Listing
January 2016

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.

Eur J Paediatr Neurol 2016 Jan 3;20(1):152-7. Epub 2015 Sep 3.

Unit of Neuropediatry, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.08.006DOI Listing
January 2016

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Neurology 2015 Jul 26;85(4):316-24. Epub 2015 Jun 26.

From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520821PMC
July 2015

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.

J Child Neurol 2015 Nov 23;30(13):1800-5. Epub 2015 Apr 23.

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

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http://dx.doi.org/10.1177/0883073815581608DOI Listing
November 2015

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.

Neurobiol Dis 2015 Sep 30;81:144-53. Epub 2015 Mar 30.

San Raffaele Scientific Institute, Division of Neuroscience, 20132 Milano, Italy; University Vita-Salute San Raffaele, 20132 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.02.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642744PMC
September 2015

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

Front Genet 2015 11;6:78. Epub 2015 Mar 11.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, Foundation of the Carlo Besta Neurological Institute IRCCS, Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2015.00078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356157PMC
March 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

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

Adult-Onset Focal Chorea in Fahr's Disease Resulting From Mutation: A Novel Phenotype.

Mov Disord Clin Pract 2015 Mar 6;2(1):79-80. Epub 2014 Dec 6.

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

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http://dx.doi.org/10.1002/mdc3.12114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353343PMC
March 2015

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Eur J Paediatr Neurol 2015 Jan 18;19(1):64-8. Epub 2014 Oct 18.

Neuropediatrics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140017
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http://dx.doi.org/10.1016/j.ejpn.2014.10.003DOI Listing
January 2015

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Neurology 2014 Sep 22;83(13):1155-62. Epub 2014 Aug 22.

From the Parkinson Institute (R.C., G.S., D.V., G.P., S.G.), Istituti Clinici di Perfezionamento, Milan; Unit of Molecular Neurogenetics (C.R., A.N., C.B., B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; IRCCS Santa Maria Nascente Fondazione Don Gnocchi Milano (A.C., A.M.), Milan; Dipartimento di Bioscienze (M.M.-F., M.G.), Università degli Studi di Milano, Milan; Nuclear Medicine (G.M.), IRCCS-Ospedale Maggiore, Milan; and Department of Neurosciences (D.V.), S. Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000821DOI Listing
September 2014

A case of infantile neuroaxonal dystrophy of neonatal onset.

J Child Neurol 2015 Mar 27;30(3):368-70. Epub 2014 May 27.

Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1177/0883073814535493DOI Listing
March 2015

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Brain Dev 2015 Feb 5;37(2):270-2. Epub 2014 May 5.

Pediatric Neurology Unit, Azienda Ospedaliera ASMN, Istituto e Cura a Carattere Scientifico, 42123 Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.04.010DOI Listing
February 2015

Isolated limb dystonia as presenting feature of Parkin disease.

J Neurol Neurosurg Psychiatry 2014 Jul 21;85(7):827-8. Epub 2014 Mar 21.

Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy Istituto di Neurologia, Università Cattolica del Sacro Cuore, Milano, Italy.

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http://dx.doi.org/10.1136/jnnp-2013-307294DOI Listing
July 2014

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

Mov Disord 2014 Feb 22;29(2):277-8. Epub 2013 Oct 22.

Department of Paediatrics, Child Neurology and Psychiatry, Sapienza Universitá di Roma, Rome, Italy.

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http://dx.doi.org/10.1002/mds.25725DOI Listing
February 2014

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation.

Brain Dev 2014 Feb 24;36(2):183-4. Epub 2013 Sep 24.

Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.braindev.2013.09.001DOI Listing
February 2014

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Orphanet J Rare Dis 2013 Aug 30;8:129. Epub 2013 Aug 30.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766640PMC
August 2013

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Semin Pediatr Neurol 2012 Jun;19(2):75-81

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS, Foundation Neurological Institute C. Besta, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S107190911200022
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http://dx.doi.org/10.1016/j.spen.2012.03.006DOI Listing
June 2012

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.

Brain Dev 2012 Jun 14;34(6):536-8. Epub 2011 Oct 14.

Child Neurology and Psychiatry Unit, G. Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.braindev.2011.09.010DOI Listing
June 2012

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

Genet Test Mol Biomarkers 2010 Dec 12;14(6):793-6. Epub 2010 Oct 12.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1089/gtmb.2010.0076DOI Listing
December 2010

Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease.

Clin Neurophysiol 2011 Mar 24;122(3):546-549. Epub 2010 Aug 24.

Department of Neurological Sciences, "Federico II" University of Naples, Italy.

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http://dx.doi.org/10.1016/j.clinph.2010.07.016DOI Listing
March 2011

Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects.

Radiology 2009 Jul;252(1):165-72

Departments of Neuroradiology, Foundation IRCCS, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1148/radiol.2522081399DOI Listing
July 2009

Early onset primary dystonia.

Eur J Paediatr Neurol 2009 Nov 20;13(6):488-92. Epub 2009 Jan 20.

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800222
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http://dx.doi.org/10.1016/j.ejpn.2008.12.001DOI Listing
November 2009

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Mov Disord 2008 Jan;23(1):28-34

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy.

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http://dx.doi.org/10.1002/mds.21715DOI Listing
January 2008

Normal cardiovascular reflex testing in patients with parkin disease.

Mov Disord 2007 Mar;22(4):528-32

Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1002/mds.21307DOI Listing
March 2007

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

J Inherit Metab Dis 2006 Oct 12;29(5):684. Epub 2006 Aug 12.

Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy.

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http://dx.doi.org/10.1007/s10545-006-0388-7DOI Listing
October 2006

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

J Neurol 2005 Feb;252(2):208-11

Istituto Nazionale Neurologico Carlo Besta, Via G. Celoria, 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1007/s00415-005-0638-xDOI Listing
February 2005