Publications by authors named "Guillermo Agosta"

17Publications

Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.

Am J Med Genet A 2019 06 26;179(6):1074-1076. Epub 2019 Mar 26.

Consultorio de Neurogenética, Centro Universitario de Neurología y División Neurología, Hospital J.M. Ramos Mejía, Facultad de Medicina, UBA, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/ajmg.a.61135DOI Listing
June 2019

DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.

Epileptic Disord 2019 Feb;21(1):42-47

Division of Neuropediatrics, Italian Hospital of Buenos Aires, CABA.

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http://dx.doi.org/10.1684/epd.2019.1025DOI Listing
February 2019

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

Eur J Med Genet 2019 Nov 8;62(11):103571. Epub 2018 Nov 8.

Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología y División Neurología, Hospital José María Ramos Mejía, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina; Programa de Medicina de Precisión y Genómica Clínica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Buenos Aires, Argentina. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183057
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http://dx.doi.org/10.1016/j.ejmg.2018.11.005DOI Listing
November 2019

Epilepsy surgery in children and adolescents: Report on 43 cases.

Arch Argent Pediatr 2016 Oct 1;114(5):458-63. Epub 2016 Oct 1.

Hospital Italiano, Ciudad Autónoma de Buenos Aires, Argentina.

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http://dx.doi.org/10.5546/aap.2016.458DOI Listing
October 2016

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

Am J Med Genet A 2016 Mar 15;170(3):688-93. Epub 2016 Jan 15.

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

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http://dx.doi.org/10.1002/ajmg.a.37472DOI Listing
March 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

Treatment of refractory epilepsy with the modified Atkins diet.

Arch Argent Pediatr 2014 Aug;112(4):348-51

Servicio de Neurología Infantil, Hospital Italiano de Buenos Aires, CABA, Argentina.

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http://dx.doi.org/10.5546/aap.2014.348DOI Listing
August 2014

[Super-refractory status epilepticus: treatment with ketogenic diet in pediatrics].

Rev Neurol 2012 Jul;55(1):20-5

Servicio de Neuropediatria, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

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July 2012

Identifying the trigeminal nerve branches for transovale radiofrequency thermolesion: "no pain, no stress".

Neurosurgery 2012 Jun;70(2 Suppl Operative):259-63

Intraoperative Neurophysiology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

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http://dx.doi.org/10.1227/NEU.0b013e318241801aDOI Listing
June 2012

Epilepsia partialis continua associated with levamisole.

Pediatr Neurol 2011 May;44(5):385-8

Department of Pediatric Neurology, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994110002
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.11.020DOI Listing
May 2011

Jugular venous oxygen saturation or arteriovenous difference of lactate content and outcome in children with severe traumatic brain injury.

Pediatr Crit Care Med 2003 Jan;4(1):33-8

Pediatric Intensive Care Unit, Pediatric Neurosurgery Section, Hospital Italiano de Buenos Aires, Asociado a la Universidad de Buenos Aires, Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/00130478-200301000-00006DOI Listing
January 2003