Publications by authors named "Martina Marangoni"

8Publications

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation.

Clin Case Rep 2020 Jul 30;8(7):1287-1292. Epub 2020 Apr 30.

Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.

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http://dx.doi.org/10.1002/ccr3.2896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364085PMC
July 2020

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

Eur J Med Genet 2020 Apr 27;63(4):103775. Epub 2019 Sep 27.

Department of Obstetrics and Gynecology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103775DOI Listing
April 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Minocycline reduces microgliosis and improves subcortical white matter function in a model of cerebral vascular disease.

Glia 2018 01 19;66(1):34-46. Epub 2017 Jul 19.

Centre for Neuroregeneration, University of Edinburgh, Chancellor's Building, 49 Little France Crescent, Edinburgh, EH16 4SB, United Kingdom.

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http://dx.doi.org/10.1002/glia.23190DOI Listing
January 2018

Statins and the Brain: More than Lipid Lowering Agents?

Curr Neuropharmacol 2019 ;17(1):59-83

Institute of Cell Biology and Neurobiology, National Research Council (CNR), Rome, Italy.

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http://dx.doi.org/10.2174/1570159X15666170703101816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341496PMC
April 2019

Age-related axonal swellings precede other neuropathological hallmarks in a knock-in mouse model of Huntington's disease.

Neurobiol Aging 2014 Oct 9;35(10):2382-93. Epub 2014 May 9.

School of Life Sciences, The University of Nottingham Medical School, Queen's Medical Centre, Nottingham, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.024DOI Listing
October 2014