Publications by authors named "Margherita Marchi"

13Publications

Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.

Authors:

Alberto A Toffano Giacomo Chiarot Stefano Zamuner Margherita Marchi Erika Salvi Stephen G Waxman Catharina G Faber Giuseppe Lauria Achille Giacometti Marta Simeoni

Sci Rep 2020 10 21;10(1):17930. Epub 2020 Oct 21.

Dipartimento di Scienze Ambientali, Informatica e Statistica, Universitá Ca' Foscari Venezia, Venezia-Mestre, Italy.

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October 2020

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

PLoS One 2020 2;15(9):e0238467. Epub 2020 Sep 2.

Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.

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October 2020

Diagnostic criteria for small fibre neuropathy in clinical practice and research.

Authors:

Grazia Devigili Sara Rinaldo Raffaella Lombardi Daniele Cazzato Margherita Marchi Erika Salvi Roberto Eleopra Giuseppe Lauria

Brain 2019 12;142(12):3728-3736

Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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December 2019

Pathogenic Variants in and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.

Authors:

Francesca Cogliati Valentina Giorgini Maura Masciadri Maria Teresa Bonati Margherita Marchi Irene Cracco Davide Gentilini Angela Peron Miriam Nella Savini Luigina Spaccini Barbara Scelsa Silvia Maitz Edvige Veneselli Giulia Prato Maria Pintaudi Isabella Moroni Aglaia Vignoli Lidia Larizza Silvia Russo

Int J Mol Sci 2019 Jul 24;20(15). Epub 2019 Jul 24.

Istituto Auxologico Italiano, IRCCS, Cytogenetics and Molecular Genetics Laboratory, 20145 Milan, Italy.

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July 2019

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Authors:

Ivo Eijkenboom Maurice Sopacua Janneke G J Hoeijmakers Bianca T A de Greef Patrick Lindsey Rowida Almomani Margherita Marchi Jo Vanoevelen Hubertus J M Smeets Stephen G Waxman Giuseppe Lauria Ingemar S J Merkies Catharina G Faber Monique M Gerrits

J Neurol Neurosurg Psychiatry 2019 03 15;90(3):342-352. Epub 2018 Dec 15.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

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March 2019

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.

Authors:

Margherita Marchi Vincenzo Provitera Maria Nolano Marcello Romano Simona Maccora Ilaria D'Amato Erika Salvi Monique Gerrits Lucio Santoro Giuseppe Lauria

J Peripher Nerv Syst 2018 09 23;23(3):202-206. Epub 2018 Jul 23.

Neuroalgology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.

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September 2018

Laser capture microdissection for transcriptomic profiles in human skin biopsies.

Authors:

Silvia Santoro Ignazio Diego Lopez Raffaella Lombardi Andrea Zauli Ana Maria Osiceanu Melissa Sorosina Ferdinando Clarelli Silvia Peroni Daniele Cazzato Margherita Marchi Angelo Quattrini Giancarlo Comi Raffaele Adolfo Calogero Giuseppe Lauria Filippo Martinelli Boneschi

BMC Mol Biol 2018 06 19;19(1). Epub 2018 Jun 19.

Laboratory of Genetics of Complex Disorders and Department of Neurology, IRCCS Policlinico San Donato, Milan, Italy.

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June 2018

COL6A5 variants in familial neuropathic chronic itch.

Brain 2017 03;140(3):555-567

Neuroalgology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Center, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.

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March 2017

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.

Authors:

Daniela Giardino Aglaia Vignoli Lucia Ballarati Maria Paola Recalcati Silvia Russo Nicole Camporeale Margherita Marchi Palma Finelli Patrizia Accorsi Lucio Giordano Francesca La Briola Valentina Chiesa Maria Paola Canevini Lidia Larizza

BMC Med Genet 2010 Oct 12;11:146. Epub 2010 Oct 12.

Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy.

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October 2010

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

Authors:

Guia Guffanti Luisa Strik Lievers Maria Teresa Bonati Margherita Marchi Lupo Geronazzo Nardo Nardocci Margherita Estienne Lidia Larizza Fabio Macciardi Silvia Russo

Psychiatry Res 2011 Jan 6;185(1-2):33-8. Epub 2010 Jul 6.

Università degli Studi di Milano, Milan, Italy.

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January 2011

A CDKL5 mutated child with precocious puberty.

Authors:

Veronica Saletti Laura Canafoglia Paola Cambiaso Silvia Russo Margherita Marchi Daria Riva

Am J Med Genet A 2009 May;149A(5):1046-51

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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May 2009

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Authors:

Maria Pintaudi Maria Giuseppina Baglietto Roberto Gaggero Elena Parodi Alice Pessagno Margherita Marchi Silvia Russo Edvige Veneselli

Epilepsy Behav 2008 Feb 11;12(2):326-31. Epub 2007 Dec 11.

Department of Child Neuropsychiatry, G. Gaslini Hospital, University of Genoa, Genoa, Italy.

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February 2008

The impact of current and past interpersonal violence on women's mental health.

Authors:

Patrizia Romito Janet Molzan Turan Margherita De Marchi

Soc Sci Med 2005 Apr;60(8):1717-27

Department of Psychology, University of Trieste, Via S.Anastasio 12, 34100 Trieste, Italy.

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April 2005