Publications by authors named "Guy Helman"

44Publications

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Am J Hum Genet 2019 11 3;105(5):996-1004. Epub 2019 Oct 3.

Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Amsterdam 1081 HV, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848986PMC
November 2019

Leukoencephalopathy due to variants in associated congenital myasthenic syndrome.

Neurology 2019 02 11;92(6):e587-e593. Epub 2019 Jan 11.

From the Murdoch Children's Research Institute (G.H., C.S.), Parkville, Melbourne; Institute for Molecular Bioscience (G.H., J.C., C.S.), the University of Queensland, Brisbane, Australia; Neurology Division (S.S., B.P., P.J.), Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India; Division of Neurology (P.J.), Department of Pediatrics, the Hospital for Sick Children, Toronto, Canada; Data61 (S.J.B.), Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia; Hôpital Marin (J.A.U.), Centre Neuromusculaire, Filnemus, Hendaye, France; Department of Pathology (R.K.S.), G.B. Pant Hospital, New Delhi, India; Illumina, Inc. (R.J.T.), San Diego, CA; Department of Child Neurology (M.S.v.d.K.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience; and Department of Functional Genomics (M.S.v.d.K.), Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006886DOI Listing
February 2019

Correction to Helman et al (2016) MRI spectrum of SDH deficiency-related infantile leukoencephalopathy.

Ann Neurol 2018 Sep;84(3):481

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ana.25296DOI Listing
September 2018

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.

Am J Med Genet A 2018 06 25;176(6):1443-1448. Epub 2018 Apr 25.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38717DOI Listing
June 2018

The spectrum of adult-onset heritable white-matter disorders.

Handb Clin Neurol 2018 ;148:669-692

Department of Neurology, Children's Hospital of Philadelphia, Philadephia, PA, United States; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, United States. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64076-5.00043-0DOI Listing
August 2018

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

Anti- N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis.

J Child Neurol 2017 02 22;32(2):243-245. Epub 2016 Nov 22.

1 Department of Neurology, Children's National Health System, NW, Washington, DC, USA.

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http://dx.doi.org/10.1177/0883073816675557DOI Listing
February 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

Mol Genet Metab 2016 11;119(3):293

Department of Neurology, Children's National Medical Center, Washington, DC, USA; Department of Pediatrics, Children's National Medical Center, Washington, DC, USA; Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.011DOI Listing
November 2016

MR Imaging Findings in Xp21.2 Duplication Syndrome.

J Radiol Case Rep 2016 May 31;10(5):9-14. Epub 2016 May 31.

Department of Neurology, Children's National Medical Center, Washington, D.C., USA.

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http://dx.doi.org/10.3941/jrcr.v10i5.2563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065289PMC
May 2016

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Neuropediatrics 2016 Dec 26;47(6):349-354. Epub 2016 Aug 26.

Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1588020DOI Listing
December 2016

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects.

JAMA Neurol 2016 06;73(6):621-2

Department of Neurology, Children's National Medical Center, Washington, DC2Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC.

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http://dx.doi.org/10.1001/jamaneurol.2016.0168DOI Listing
June 2016

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

Neurology 2016 Jan 18;86(1):28-35. Epub 2015 Nov 18.

From the Department of Neuroradiology (R.L.P.) and Laboratory of Neurogenetics of Motion (R.L.P.), Montreal Neurological Institute and Hospital, McGill University, Canada; Unit of Neuroradiology (C.U.), Department of Radiology, San Carlo Borromeo Hospital, Milan, Italy; Public Health Research Institute of the University of Montreal (F.R.), Canada; Department of Neurology (A.V., G.H.), Children's National Health System, Washington, DC; Child Neurology and Psychiatry Unit (I.O., U.B., S.O.), C. Mondino National Neurological Institute, Pavia; Unit of Child Neurology and Psychiatry (D.T., U.B.), Department of Brain and Behavioural Sciences, University of Pavia; Department of Child Neurology (D.T.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan; Department of Clinical and Experimental Sciences (E.F.), Civil Hospital and University of Brescia, Italy; Imagine Institute (Y.J.C.), Paris Descartes University, INSERM UMR 1163, Paris, France; Manchester Centre for Genomic Medicine (Y.J.C.), Manchester Academic Health Sciences Centre, University of Manchester; and the Department of Paediatric Neurology (J.L.), Leeds Teaching Hospitals NHS Trust, UK.

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http://www.neurology.org/content/86/1/28.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000222
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000002228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731289PMC
January 2016

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.

PLoS One 2015 11;10(6):e0129595. Epub 2015 Jun 11.

Center for Functional and Molecular Imaging, Georgetown University, Washington, DC, United States of America; Department of Neurology, Georgetown University Medical Center, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129595PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466251PMC
May 2016

Emerging treatments for pediatric leukodystrophies.

Pediatr Clin North Am 2015 Jun 8;62(3):649-66. Epub 2015 Apr 8.

Department of Neurology, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA; Center for Genetic Medicine Research, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA; Department of Integrated Systems Biology, George Washington University School of Medicine, 2150 Pennsylvania Ave NW, Washington, DC 20037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2015.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5712822PMC
June 2015

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Am J Hum Genet 2015 Apr 26;96(4):675-81. Epub 2015 Mar 26.

Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183PMC
April 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

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

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Mol Genet Metab 2015 Apr 27;114(4):516-26. Epub 2014 Dec 27.

Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140082
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http://dx.doi.org/10.1016/j.ymgme.2014.12.433DOI Listing
April 2015

The urea cycle disorders.

Semin Neurol 2014 Jul 5;34(3):341-9. Epub 2014 Sep 5.

Department of Neurology, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1055/s-0034-1386771DOI Listing
July 2014

Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis.

JIMD Rep 2014 8;17:23-7. Epub 2014 Jul 8.

Department of Neurology, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1007/8904_2014_327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241195PMC
November 2014

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

Mol Genet Metab 2014 Sep-Oct;113(1-2):136-41. Epub 2014 May 20.

Department of Neurogenetics, Children's National Medical Center, Washington D.C., USA; Center for Functional and Molecular Imaging, Georgetown University, Washington D.C., USA; George Washington University of Health Sciences, Washington D.C., USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458385PMC
June 2015

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Mol Genet Metab 2014 03 16;111(3):393-398. Epub 2013 Dec 16.

Department of Neurology, Children's National Medical Center, Washington, DC, USA; Department of Pediatrics, Children's National Medical Center, Washington, DC, USA; Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183365PMC
March 2014