Monica Troncoso

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Authors:

Charles M Lourenço Andre Pessoa Carmen C Mendes Carolina Rivera-Nieto Diane Vergara Mónica Troncoso Emily Gardner Francisca Mallorens Lina Tavera Luis A Lizcano Nora Atanacio Norberto Guelbert Norma Specola Nury Mancilla Carolina F M de Souza Sara E Mole

J Paediatr Child Health 2020 Dec 30. Epub 2020 Dec 30.

UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

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December 2020

Autism screening and conditional cash transfers in Chile: Using the Quantitative Checklist (Q-CHAT) for early autism detection in a low resource setting.

Authors:

Andres Roman-Urrestarazu Carolina Yáñez Claudia López-Garí Constanza Elgueta Carrie Allison Carol Brayne Mónica Troncoso Simon Baron-Cohen

Autism 2020 Dec 16:1362361320972277. Epub 2020 Dec 16.

Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.

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December 2020

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:

Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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November 2020

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

Authors:

Masamune Sakamoto Den Kouhei Muzhirah Haniffa Sebastián Silva Mónica Troncoso Paola Santander Valeria Schonstedt Ximena Stecher Nobuhiko Okamoto Kohei Hamanaka Takeshi Mizuguchi Satomi Mitsuhashi Noriko Miyake Naomichi Matsumoto

J Hum Genet 2020 Sep 14;65(9):751-757. Epub 2020 May 14.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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September 2020

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Authors:

Shen Gu Chun-An Chen Jill A Rosenfeld Heidi Cope Nathalie Launay Kevin M Flanigan Megan A Waldrop Rachel Schrader Jane Juusola Ozlem Goker-Alpan Aubrey Milunsky Agatha Schlüter Mónica Troncoso Aurora Pujol Queenie K-G Tan Christian P Schaaf Linyan Meng

Hum Mutat 2020 03 25;41(3):632-640. Epub 2019 Nov 25.

Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.

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March 2020

Monocular nystagmus in a patient with alternating hemiplegia of childhood.

Authors:

Javiera Tello Isadora Ruiz Luisa Herrera Ana Miranda Paulina Alid Mónica Troncoso

Neurology 2019 08;93(8):361

From Pediatric Neurology (J.T., I.R., M.T.), the Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Human Genetics Program (L.H., A.M.), ICBM, Facultad de Medicina, Universidad de Chile, Santiago; and Hospital Regional de Talca (P.A.), Universidad Católica del Maule, Pediatric Neurology, Talca, Chile.

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August 2019

Risk Factors for Perinatal Arterial Ischemic Stroke: A Case-Control Study.

Authors:

Daniela Munoz María José Hidalgo Fernanda Balut Mónica Troncoso Susana Lara Andrés Barrios Patricia Parra

Cell Med 2018 11;10:2155179018785341. Epub 2018 Jul 11.

Department of Pediatric Neurology and Psychiatry, San Borja Arriarán Hospital, University of Chile, Santiago, Chile.

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July 2018

Pediatric Arterial Ischemic Stroke: Clinical Presentation, Risk Factors, and Pediatric NIH Stroke Scale in a Series of Chilean Patients.

Authors:

María José Hidalgo Daniela Muñoz Fernanda Balut Mónica Troncoso Susana Lara Andrés Barrios Patricia Parra

Cell Med 2018 29;10:2155179018760330. Epub 2018 May 29.

Department of Pediatric Neurology and Psychiatry, San Borja Arriarán Hospital, University of Chile, Santiago, Región Metropolitana, Chile.

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May 2018

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.

Authors:

Khue Vu Nguyen Sebastian Silva Monica Troncoso Robert K Naviaux William L Nyhan

Nucleosides Nucleotides Nucleic Acids 2017 Jul 19;36(7):452-462. Epub 2017 May 19.

b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.

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July 2017

[Clinical and genetic study patients with tuberous sclerosis complex].

Authors:

Carla Rubilar Francisca López Mónica Troncoso Andrés Barrios Luisa Herrera

Rev Chil Pediatr 2017 Feb;88(1):41-49

Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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February 2017

The phenotypic spectrum of SCN8A encephalopathy.

Neurology 2015 Feb 7;84(5):480-9. Epub 2015 Jan 7.

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February 2015

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Authors:

Romina Kohan María Noelia Carabelos Winnie Xin Katherine Sims Norberto Guelbert Inés Adriana Cismondi Patricia Pons Graciela Irene Alonso Mónica Troncoso Scarlet Witting David A Pearce Raquel Dodelson de Kremer Ana María Oller-Ramírez Inés Noher de Halac

Gene 2013 Mar 22;516(1):114-21. Epub 2012 Dec 22.

Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, (5014) Córdoba, Argentina.

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March 2013