Publications by authors named "Daniela Verrigni"

26Publications

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell Metab 2016 Feb 31;23(2):292-302. Epub 2015 Dec 31.

Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, 20892, Bethesda, MD, USA. Electronic address:

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http://www.cell.com/cell-metabolism/pdf/S1550-4131(15)00620-
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http://linkinghub.elsevier.com/retrieve/pii/S155041311500620
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http://dx.doi.org/10.1016/j.cmet.2015.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749439PMC
February 2016

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Eur J Paediatr Neurol 2015 Sep 14;19(5):497-503. Epub 2015 May 14.

Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2015.04.008DOI Listing
September 2015

Mitochondrial dysfunction in central nervous system white matter disorders.

Glia 2014 Nov 28;62(11):1878-94. Epub 2014 May 28.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.

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http://dx.doi.org/10.1002/glia.22670DOI Listing
November 2014

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.

Biochimie 2014 Jul 19;102:166-73. Epub 2014 Mar 19.

Department of Cardiovascular, Respiratory, Nephrological, Anesthesiological and Geriatric Sciences, University of Rome, "La Sapienza", Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03009084140008
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http://dx.doi.org/10.1016/j.biochi.2014.03.006DOI Listing
July 2014

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Mol Genet Metab 2013 Nov 7;110(3):329-35. Epub 2013 Aug 7.

Division of Metabolism, Department of Pediatric Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.019DOI Listing
November 2013

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Neurogenetics 2012 Nov 18;13(4):375-86. Epub 2012 Sep 18.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-012-0343-8DOI Listing
November 2012