Marika Bianchi

Marika Bianchi

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Marika Bianchi

Marika Bianchi

Publications by authors named "Marika Bianchi"

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Legius Syndrome: two novel mutations in the SPRED1 gene.

Hum Genome Var 2015 3;2:15051. Epub 2015 Dec 3.

Laboratory of Experimental Neurobiology, 'C. Mondino' National Neurological Institute , Pavia, Italy.

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http://dx.doi.org/10.1038/hgv.2015.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785569PMC
April 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Sporadic and familial glut1ds Italian patients: A wide clinical variability.

Seizure 2015 Jan 26;24:28-32. Epub 2014 Nov 26.

Brain and Behaviour Department, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy. Electronic address:

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http://www.glut1.it/wp-content/uploads/2014/12/familial-glut
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http://dx.doi.org/10.1016/j.seizure.2014.11.009DOI Listing
January 2015

Combined effect of common gene variants on response to drug withdrawal therapy in medication overuse headache.

Eur J Clin Pharmacol 2014 Oct 7;70(10):1195-202. Epub 2014 Aug 7.

Dipartimento di Scienze del Farmaco and Centro di Ricerca Interdipartimentale di Farmacogenetica e Farmacogenomica (CRIFF), Università del Piemonte Orientale "A. Avogadro", Largo Donegani 2, 28100, Novara, Italy.

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http://link.springer.com/content/pdf/10.1007/s00228-014-1726
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http://link.springer.com/10.1007/s00228-014-1726-6
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http://dx.doi.org/10.1007/s00228-014-1726-6DOI Listing
October 2014

Regulation of FMO and PON detoxication systems in ALS human tissues.

Neurotox Res 2013 May 17;23(4):370-7. Epub 2012 Oct 17.

Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute C. Mondino, Via Mondino, 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s12640-012-9356-1DOI Listing
May 2013

Comparison of three methods for genotyping of prothrombotic polymorphisms.

Clin Exp Med 2010 Dec 29;10(4):269-72. Epub 2010 Apr 29.

Laboratory of Neurogenetics, IRCCS Neurological Institute "C. Mondino", Via Mondino 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s10238-010-0096-3DOI Listing
December 2010

G93A SOD1 alters cell cycle in a cellular model of Amyotrophic Lateral Sclerosis.

Cell Signal 2010 Oct 31;22(10):1477-84. Epub 2010 May 31.

Laboratory of Experimental Neurobiology, IRCCS, National Neurological Institute C. Mondino, Via Mondino, 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.cellsig.2010.05.016DOI Listing
October 2010

The T393C polymorphism of the GNAS1 gene is associated with deficit schizophrenia in an Italian population sample.

Neurosci Lett 2006 Apr 10-17;397(1-2):159-63. Epub 2006 Jan 6.

Interdepartmental Center for Research in Molecular Medicine (CIRMC), University of Pavia, Viale Taramelli 24, I-27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.neulet.2005.12.028DOI Listing
May 2006

Raised plasma nerve growth factor levels associated with early-stage romantic love.

Psychoneuroendocrinology 2006 Apr 10;31(3):288-94. Epub 2005 Nov 10.

Interdepartmental Center for Research in Molecular Medicine, CIRMC, University of Pavia, Viale Taramelli 24, I-27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.psyneuen.2005.09.002DOI Listing
April 2006

Effect of the functional toll-like receptor 4 Asp299Gly polymorphism on susceptibility to late-onset Alzheimer's disease.

Neurosci Lett 2006 Jan 12;391(3):147-9. Epub 2005 Sep 12.

Interdepartmental Center for Research in Molecular Medicine (CIRMC), University of Pavia, Viale Taramelli 24, I-27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.neulet.2005.08.047DOI Listing
January 2006

Genetic association of alpha2-Heremans-Schmid glycoprotein polymorphism with late-onset Alzheimer's disease in Italians.

Neurosci Lett 2005 Oct;386(3):176-8

Interdepartmental Center for Research in Molecular Medicine (CIRMC), University of Pavia, Viale Taramelli 24, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.neulet.2005.06.014DOI Listing
October 2005