Michele Iacomino

Michele Iacomino

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Michele Iacomino

Michele Iacomino

Publications by authors named "Michele Iacomino"

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16Publications

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Chiari malformation type I: what information from the genetics?

Childs Nerv Syst 2019 Oct 5;35(10):1665-1671. Epub 2019 Aug 5.

UOSD Laboratorio Neurogenetica e Neuroscienze, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

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http://dx.doi.org/10.1007/s00381-019-04322-wDOI Listing
October 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Novel mutation in sarcotubular myopathy.

Acta Myol 2019 03 1;38(1):8-12. Epub 2019 Mar 1.

Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598407PMC
March 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Eur J Paediatr Neurol 2018 May 18;22(3):541-543. Epub 2017 Dec 18.

Laboratory of Neurogenetics and Neuroscience, Institute G.Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.12.005DOI Listing
May 2018

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Mol Syndromol 2016 Sep 17;7(4):234-238. Epub 2016 Aug 17.

Laboratory of Neurogenetics, Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, University of Genoa, 'G. Gaslini' Institute, Genoa, Rome, Italy.

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http://dx.doi.org/10.1159/000448367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073591PMC
September 2016

White matter involvement in a family with a novel PDGFB mutation.

Neurol Genet 2016 Jun 5;2(3):e77. Epub 2016 May 5.

Dubowitz Neuromuscular Service (R.B.), UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom; Unit of Neuroradiology (M.S.), Laboratorio di Neurogenetica e Neuroscienze (A.R., M.I., F.Z.), "G. Gaslini" Institute, Genova, Italy; Neurology Unit (M.D.S.), E.O. Galliera Hospital, Genova, Italy; Pediatric Neurology and Muscular Diseases Unit (C.M.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Advanced Biomedical Sciences (M.C., M.D.B.D.C.), Federico II University, Naples, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867655PMC
June 2016

Novel GABRG2 mutations cause familial febrile seizures.

Neurol Genet 2015 Dec 4;1(4):e35. Epub 2015 Nov 4.

Sorbonne Universités (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UPMC Univ Paris 06, UM 75, ICM; INSERM, U1127 (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), ICM; CNRS (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UMR 7225, ICM; ICM (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), Paris, France; Department of Neurology (F.P.), University Hospitals of Geneva (HUG), Switzerland; Centre de Reference Épilepsies Rares, Epilepsy Unit (S.W., M.B., V.L., I.A.-G.), and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova (C.M., P.S.), and Laboratory of Neurogenetics, Department of Neurosciences (F.Z., M.I.), "G. Gaslini" Institute, Genova, Italy; Neurogenetics Group, VIB-Department of Molecular Genetics (K.H.), and Laboratory of Neurogenetics, Institute Born-Bunge (K.H.), University of Antwerp, Belgium; Centre de Reference Épilepsies Rares (O.D., R.N.), Department of Pediatric Neurology, Necker Enfants Malades Hospital, AP-HP, Paris; INSERM (O.D., R.N.), U1129, Necker, Paris, France; and University Paris Descartes (O.D., R.N.), Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385PMC
December 2015

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy.

Hum Gene Ther 2013 Apr 4;24(4):424-30. Epub 2013 Apr 4.

Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Napoli, Italy.

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http://dx.doi.org/10.1089/hum.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631017PMC
April 2013