Publications by authors named "Grace M Hobson"

27Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

Mol Ther Nucleic Acids 2018 Sep 5;12:420-432. Epub 2018 Jul 5.

Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA; Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2018.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036941PMC
September 2018

Auditory function in Pelizaeus-Merzbacher disease.

J Neurol 2018 Jul 3;265(7):1580-1589. Epub 2018 May 3.

Nemours Biomedical Research, Center for Applied Clinical Genomics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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http://dx.doi.org/10.1007/s00415-018-8884-xDOI Listing
July 2018

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Am J Hum Genet 2017 Apr 30;100(4):617-634. Epub 2017 Mar 30.

Department of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384098PMC
April 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

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

PLoS Genet 2015 Mar 6;11(3):e1005050. Epub 2015 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052PMC
March 2015

Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation.

Pulm Pharmacol Ther 2015 Feb 4;30:22-31. Epub 2014 Nov 4.

Alfred I. duPont Hospital for Children, Nemours Lung Center, Wilmington, DE 19803, USA; Alfred I. duPont Hospital for Children, Nemours Biomedical Research, Wilmington, DE 19803, USA.

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http://dx.doi.org/10.1016/j.pupt.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874309PMC
February 2015

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Hum Mol Genet 2014 Oct 1;23(20):5464-78. Epub 2014 Jun 1.

Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA, Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA and Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA

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http://dx.doi.org/10.1093/hmg/ddu271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168831PMC
October 2014

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

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

Semin Neurol 2012 Feb 15;32(1):62-7. Epub 2012 Mar 15.

Alfred I. duPont Hospital for Children, Nemours Biomedical Research, RC1-235, 1701 Rockland Road, Wilmington, DE 19803, USA.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1306388
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http://dx.doi.org/10.1055/s-0032-1306388DOI Listing
February 2012

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.

J Child Neurol 2009 May 16;24(5):618-24. Epub 2009 Jan 16.

Institute for Child Development and Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073808327833DOI Listing
May 2009

Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability.

Exp Neurol 2008 Dec 18;214(2):322-30. Epub 2008 Sep 18.

Department of Neurology, University of Kentucky, Lexington, KY 40536, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S001448860800353
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http://dx.doi.org/10.1016/j.expneurol.2008.09.001DOI Listing
December 2008

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Ann Neurol 2006 Feb;59(2):398-403

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1002/ana.20732DOI Listing
February 2006

PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.

J Cell Biochem 2006 Apr;97(5):999-1016

Department of Neurology, University of Kentucky, Lexington, Kentucky 40536-0284, USA.

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http://doi.wiley.com/10.1002/jcb.20692
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http://dx.doi.org/10.1002/jcb.20692DOI Listing
April 2006

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

Hum Mutat 2006 Jan;27(1):69-77

Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, Delaware, USA.

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http://doi.wiley.com/10.1002/humu.20276
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http://dx.doi.org/10.1002/humu.20276DOI Listing
January 2006

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

J Neurol Sci 2004 Sep;224(1-2):83-7

Department of Pediatrics, Yeungnam University Hospital, Daegu, South Korea.

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http://dx.doi.org/10.1016/j.jns.2004.05.015DOI Listing
September 2004

A PLP splicing abnormality is associated with an unusual presentation of PMD.

Ann Neurol 2002 Oct;52(4):477-88

Department of Research, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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http://doi.wiley.com/10.1002/ana.10320
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http://dx.doi.org/10.1002/ana.10320DOI Listing
October 2002