Publications by authors named "Caterina Garone"

39Publications

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Mol Genet Metab 2020 01 21;129(1):26-34. Epub 2019 Nov 21.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Hills Road, CB20XY Cambridge, UK; Dipartimento di Scienze Mediche e Chirurgiche, Centro di Ricerca Biomedica Applicata, Università di Bologna, via Massarenti, 11, 40100 Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.11.003DOI Listing
January 2020

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Front Genet 2018 21;9:669. Epub 2018 Dec 21.

Molecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00669
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http://dx.doi.org/10.3389/fgene.2018.00669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309918PMC
December 2018

Towards a therapy for mitochondrial disease: an update.

Biochem Soc Trans 2018 10 8;46(5):1247-1261. Epub 2018 Oct 8.

MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, U.K.

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http://dx.doi.org/10.1042/BST20180134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195631PMC
October 2018

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Ann Neurol 2017 May 4;81(5):641-652. Epub 2017 May 4.

Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.1002/ana.24922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926768PMC
May 2017

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

JAMA Neurol 2013 Sep;70(9):1177-9

Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, New York2Human Genetics, Joint PhD Program, Universities of Turin and Bologna, Italy.

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http://dx.doi.org/10.1001/jamaneurol.2013.3197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891824PMC
September 2013

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

FASEB J 2013 Feb 12;27(2):612-21. Epub 2012 Nov 12.

Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1096/fj.12-209361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545522PMC
February 2013

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Biochim Biophys Acta 2012 May 18;1820(5):625-31. Epub 2012 Jan 18.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165120000
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http://dx.doi.org/10.1016/j.bbagen.2012.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319470PMC
May 2012

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study.

Seizure 2012 Mar 19;21(2):141-3. Epub 2011 Oct 19.

Child Neurology and Psychiatry Unit, University of Bologna, S. Orsola-Malpighi Hospital, via Massarenti 11, 40138 Bologna, Italy.

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http://dx.doi.org/10.1016/j.seizure.2011.09.013DOI Listing
March 2012

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Brain 2011 Nov 20;134(Pt 11):3326-32. Epub 2011 Sep 20.

Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.

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http://brain.oxfordjournals.org/content/brain/134/11/3326.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awr245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3212717PMC
November 2011

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Dev Med Child Neurol 2011 Oct 18;53(10):958-61. Epub 2011 May 18.

Child Neuropsychiatric Unit, St Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03993.xDOI Listing
October 2011

Historical perspective on mitochondrial medicine.

Dev Disabil Res Rev 2010 ;16(2):106-13

Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, NY 10032, USA.

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http://doi.wiley.com/10.1002/ddrr.102
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http://dx.doi.org/10.1002/ddrr.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839238PMC
January 2011

Metabolic myopathies.

Curr Rheumatol Rep 2010 Oct;12(5):386-93

Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, Room 4-424B, 630 West 168th Street, New York, NY 10032, USA.

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http://link.springer.com/10.1007/s11926-010-0119-9
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http://dx.doi.org/10.1007/s11926-010-0119-9DOI Listing
October 2010

A new case of idiopathic hemiplegia hemiconvulsion syndrome.

Neurol Sci 2010 Dec 13;31(6):799-805. Epub 2010 May 13.

Child Neuropsychiatry Unit, Paediatric Department, University of Bologna, Via Massarenti 11, Bologna, Italy.

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http://dx.doi.org/10.1007/s10072-010-0286-5DOI Listing
December 2010

No kinetic interaction between levetiracetam and cyclosporine: a case report.

J Child Neurol 2007 Apr;22(4):440-2

Child Neuropsychiatry, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1177/0883073807301920DOI Listing
April 2007