Publications by authors named "Alice Donati"

18Publications

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

Early neurodevelopmental characterization in children with cobalamin C/defect.

J Inherit Metab Dis 2020 03 16;43(2):367-374. Epub 2020 Jan 16.

Pediatric Neurology, Department of Human and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.

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http://dx.doi.org/10.1002/jimd.12171DOI Listing
March 2020

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

Neuromolecular Med 2013 Jun 13;15(2):405-19. Epub 2013 Apr 13.

Molecular Medicine, and Neuromuscular Lab, IRCCS Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

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http://dx.doi.org/10.1007/s12017-013-8228-zDOI Listing
June 2013

Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.

Horm Res Paediatr 2010 14;73(5):409-13. Epub 2010 Apr 14.

Paediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy.

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https://www.karger.com/Article/FullText/308176
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http://dx.doi.org/10.1159/000308176DOI Listing
July 2010

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Hum Mol Genet 2007 May 2;16(10):1241-52. Epub 2007 Apr 2.

Department of Molecular Neurogenetics, , Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://academic.oup.com/hmg/article/16/10/1241/628176/Impair
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http://dx.doi.org/10.1093/hmg/ddm072DOI Listing
May 2007

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Brain 2005 Apr 2;128(Pt 4):723-31. Epub 2005 Feb 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh410DOI Listing
April 2005

Altered thymidine metabolism due to defects of thymidine phosphorylase.

J Biol Chem 2002 Feb 3;277(6):4128-33. Epub 2001 Dec 3.

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1074/jbc.M111028200DOI Listing
February 2002