Laura Melchionda

Laura Melchionda

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Laura Melchionda

Laura Melchionda

Publications by authors named "Laura Melchionda"

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15Publications

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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

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Rotenone upregulates alpha-synuclein and myocyte enhancer factor 2D independently from lysosomal degradation inhibition.

Biomed Res Int 2013 30;2013:846725. Epub 2013 Jul 30.

Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy.

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http://dx.doi.org/10.1155/2013/846725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745903PMC
March 2014

Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease.

Brain Res 2014 Feb 19;1546:46-52. Epub 2013 Dec 19.

Laboratory of Neurobiology, Department of Surgery and Translational Medicine, University of Milano-Bicocca, via Cadore 48, 20900 Monza, MB, Italy; Department of Neurology, San Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.1016/j.brainres.2013.12.017DOI Listing
February 2014

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 2013

A panel of macroautophagy markers in lymphomonocytes of patients with amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2012 Jan 15;13(1):119-24. Epub 2011 Sep 15.

Department of Neuroscience and Biomedical Technologies, University of Milano-Bicocca. via Cadore 48, Monza (MB), Italy.

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http://www.tandfonline.com/doi/full/10.3109/17482968.2011.61
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http://dx.doi.org/10.3109/17482968.2011.611139DOI Listing
January 2012