Adeline Vanderver

Adeline Vanderver

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Adeline Vanderver

Publications by authors named "Adeline Vanderver"

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Brain white matter abnormalities associated with copy number variants.

Am J Med Genet A 2019 Oct 17. Epub 2019 Oct 17.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61389DOI Listing
October 2019

Developmental Outcomes of Aicardi Goutières Syndrome.

J Child Neurol 2019 Sep 27:883073819870944. Epub 2019 Sep 27.

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

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http://dx.doi.org/10.1177/0883073819870944DOI Listing
September 2019

Neuropathological Findings in a Case of -Related Aicardi-Goutières Syndrome.

Pediatr Dev Pathol 2019 Nov-Dec;22(6):566-570. Epub 2019 Apr 5.

Departments of Pathology, Neurology, Neurosurgery, University of Colorado, Aurora, Colorado.

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http://dx.doi.org/10.1177/1093526619837797DOI Listing
April 2019

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Mov Disord Clin Pract 2019 Feb 9;6(2):155-159. Epub 2019 Jan 9.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12715
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http://dx.doi.org/10.1002/mdc3.12715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384176PMC
February 2019

Aicardi goutières syndrome is associated with pulmonary hypertension.

Mol Genet Metab 2018 12 7;125(4):351-358. Epub 2018 Sep 7.

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

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http://dx.doi.org/10.1016/j.ymgme.2018.09.004DOI Listing
December 2018

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

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

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 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

Astrocytes, an active player in Aicardi-Goutières syndrome.

Brain Pathol 2018 05;28(3):399-407

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

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http://dx.doi.org/10.1111/bpa.12600DOI Listing
May 2018

Adulthood leukodystrophies.

Nat Rev Neurol 2018 02 5;14(2):94-105. Epub 2018 Jan 5.

Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.

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http://www.nature.com/doifinder/10.1038/nrneurol.2017.175
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http://dx.doi.org/10.1038/nrneurol.2017.175DOI Listing
February 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

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Mol Genet Metab 2017 11 1;122(3):130-133. Epub 2017 Sep 1.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173048
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http://dx.doi.org/10.1016/j.ymgme.2017.08.012DOI Listing
November 2017

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.

Neurol Genet 2017 Aug 14;3(4):e162. Epub 2017 Jul 14.

Baylor Research Institute (N.M., B.L., R.S.), Baylor Scott and White Health, Dallas, TX; Unit of Molecular Neurogenetics (A.N., D.G.), Foundation IRCCS Institute of Neurology "Besta," Milan, Italy; Mitochondrial Biology Unit (A.R.), Medical Research Council, Cambridge, United Kingdom; Department of Bioinformatics (B.C.), University of Texas Southwestern Medical Center, Dallas; and Department of Neurology (A.V.), George Washington University School of Medicine, Children's National Health, DC.

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http://dx.doi.org/10.1212/NXG.0000000000000162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247PMC
August 2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Neuropediatrics 2017 Jun 1;48(3):152-160. Epub 2017 Mar 1.

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

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http://dx.doi.org/10.1055/s-0037-1599141DOI Listing
June 2017

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

J Med Genet 2017 05 31;54(5):330-337. Epub 2016 Oct 31.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2016-104132DOI Listing
May 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

Alexander Disease.

J Child Neurol 2017 02 10;32(2):184-187. Epub 2016 Oct 10.

1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1177/0883073816673263DOI 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

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

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

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

PLoS One 2015 2;10(12):e0143613. Epub 2015 Dec 2.

Department of Experimental Immunology, Academic Medical Center (AMC), University of Amsterdam (UvA), Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0143613PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667845PMC
June 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

Genetic Leukoencephalopathies in Adults.

Continuum (Minneap Minn) 2016 06;22(3):916-42

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http://dx.doi.org/10.1212/CON.0000000000000338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617213PMC
June 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 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
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http://dx.doi.org/10.1212/WNL.0000000000002228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731289PMC
January 2016

Targeted leukodystrophy diagnosis based on charges and yields for testing.

Am J Med Genet A 2015 Nov 16;167A(11):2541-3. Epub 2015 Jul 16.

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958453PMC
November 2015

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Ann Rheum Dis 2015 Oct 6;74(10):1931-9. Epub 2014 Jun 6.

Department of Experimental Immunology, Academic Medical Center, University of Amsterdam (UvA), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/annrheumdis-2014-205396DOI Listing
October 2015

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

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

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

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

Ubiquitous L1 mosaicism in hippocampal neurons.

Cell 2015 Apr;161(2):228-39

Mater Research Institute - University of Queensland, TRI Building, Woolloongabba QLD 4102, Australia; Queensland Brain Institute, University of Queensland, Brisbane QLD 4072, Australia. Electronic address:

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http://www.cell.com/cell/pdf/S0092-8674(15)00313-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S009286741500313
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http://dx.doi.org/10.1016/j.cell.2015.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398972PMC
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

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

Neurology 2015 Jan 19;84(3):226-30. Epub 2014 Dec 19.

From the Department of Child Neurology (N.I.W., T.E.M.A., M.S.v.d.K.), VU University Medical Center, Amsterdam; the Neuroscience Campus Amsterdam (N.I.W., T.E.M.A., M.S.v.d.K.), the Netherlands; the NIH Undiagnosed Diseases Program (C.T.), National Institutes of Health, Bethesda, MD; the NYU Multiple Sclerosis Center (I.K.), Department of Neurology, NYU School of Medicine, New York; the Department of Radiology (K.A.L.), Hospital Kuala Lumpur, Malaysia; the Department of Neurology (R.L.), Royal Children's Hospital; Murdoch Children's Research Institute (R.L.); the Department of Pediatrics (R.L.), University of Melbourne, Australia; the Department of Neurology (A.P., A.V.), Children's National Medical Center, Washington, DC; the Institute for Molecular Bioscience (C.S., R.J.T.), University of Queensland, St Lucia, Queensland, Australia; the Departments of Integrative Systems Biology and Pediatrics (R.J.T.), George Washington University School of Medicine, Washington, DC; Illumina Inc. (R.J.T.), San Diego, CA; and the Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335995PMC
January 2015

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Am J Med Genet A 2014 Nov 22;164A(11):2892-900. Epub 2014 Sep 22.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36709
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http://dx.doi.org/10.1002/ajmg.a.36709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205164PMC
November 2014

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

J Genet Couns 2014 Oct 30;23(5):734-41. Epub 2014 Apr 30.

Department of Neurology, Children's National Medical Center, 111 Michigan Ave. NW, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s10897-014-9720-9DOI Listing
October 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Brain 2014 Jul 30;137(Pt 7):1921-30. Epub 2014 Apr 30.

1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands10 Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

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http://dx.doi.org/10.1093/brain/awu110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345790PMC
July 2014

Hypomyelinating leukodystrophies: translational research progress and prospects.

Ann Neurol 2014 Jul 24;76(1):5-19. Epub 2014 Jun 24.

Department of Physics and Medical Technology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.

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July 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Ann Clin Transl Neurol 2014 Jun;1(6):379-389

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA ; NIH Undiagnosed Diseases Program, National Institutes of Health, Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, MD, USA ; Departments of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars- Sinai Medical Center, Los Angeles, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078876PMC
June 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183365PMC
March 2014

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases.

J Immunol 2014 Mar 7;192(6):2551-63. Epub 2014 Feb 7.

Neuroimmunological Diseases Unit, Neuroimmunology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892;

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http://dx.doi.org/10.4049/jimmunol.1302884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045479PMC
March 2014

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

J Child Neurol 2014 Feb 7;29(2):214-20. Epub 2013 Oct 7.

1Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

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February 2014

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Pediatr Neurol 2014 Jan 10;50(1):112-4. Epub 2013 Oct 10.

Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303471PMC
January 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.

Clin Dev Immunol 2012 11;2012:206730. Epub 2012 Nov 11.

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508752PMC
August 2013

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

Neurology 2013 Mar 13;80(11):997-1002. Epub 2013 Feb 13.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653200PMC
March 2013

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders.

Semin Pediatr Neurol 2012 Dec;19(4):219-23

Department of Neurology, Children's Research Institute, Center for Genetic Medicine, Children's National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.spen.2012.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797524PMC
December 2012

If at first you don't succeed, test again (for peroxisomal biogenesis disorders).

Neurology 2012 Apr 28;78(17):1288-9. Epub 2012 Mar 28.

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April 2012