Publications by authors named "Yanick J Crow"

99Publications

An Indian child with Coats plus syndrome due to mutations in STN1.

Am J Med Genet A 2020 Jul 6. Epub 2020 Jul 6.

Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61737DOI Listing
July 2020

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption.

Schizophr Res 2020 Jun 19. Epub 2020 Jun 19.

INSERM UMR 1163, Laboratoire de Neurogénétique et Neuroinflammation, Paris, France; Service de Pédiatrie Générale, Maladies Infectieuses et Médecine Interne, Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant (RAISE), APHP Robert Debré, Paris, France; Service d'Immunologie-Hématologie et Rhumatologie Pédiatriques, APHP Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.schres.2020.05.064DOI Listing
June 2020

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.

Neuropediatrics 2020 08 28;51(4):302-306. Epub 2020 May 28.

Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0040-1702161DOI Listing
August 2020

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Am J Hum Genet 2020 05 30;106(5):694-706. Epub 2020 Apr 30.

Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212298PMC
May 2020

Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness.

Neurology 2020 06 1;94(22):994-999. Epub 2020 May 1.

From the Departments of Neurology (J.W., M.R.B., R.H.T.), Clinical Neurophysiology (M.R.B.), and Infectious Disease (D.A.P.), Royal Victoria Infirmary; Institute of Neuroscience (M.R.B., R.H.T.), Newcastle-Upon-Tyne, UK; Institute of Neurosciences Kolkata (S.T., H.K.), India; Division of Evolution and Genomic Sciences (G.I.R.), School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre; Centre for Genomic and Experimental Medicine (Y.C.), MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, UK; and Laboratory of Neurogenetics and Neuroinflammation (Y.C.), Institut Imagine, Paris Descartes University, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000009533DOI Listing
June 2020

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Neuropediatrics 2020 06 28;51(3):178-184. Epub 2019 Nov 28.

Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-3400979DOI Listing
June 2020

Treatments in Aicardi-Goutières syndrome.

Dev Med Child Neurol 2020 01 7;62(1):42-47. Epub 2019 Jun 7.

Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.14268DOI Listing
January 2020

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

J Exp Med 2019 05 1;216(5):1199-1213. Epub 2019 Apr 1.

Immunity and Cancer Department, Institut Curie, Paris-Sciences-et-Lettres Research University, Institut National de la Santé et de la Recherche Medicale U932, Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20181329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504208PMC
May 2019

[Pathological consequences of excess of interferon in vivo].

Med Sci (Paris) 2019 Mar 1;35(3):232-235. Epub 2019 Apr 1.

CNRS, Paris, France.

View Article

Download full-text PDF

Source
https://www.medecinesciences.org/10.1051/medsci/2019037
Publisher Site
http://dx.doi.org/10.1051/medsci/2019037DOI Listing
March 2019

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Annu Rev Immunol 2019 04 11;37:247-267. Epub 2019 Jan 11.

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom; email:

View Article

Download full-text PDF

Source
https://www.annualreviews.org/doi/10.1146/annurev-immunol-04
Publisher Site
http://dx.doi.org/10.1146/annurev-immunol-042718-041257DOI Listing
April 2019

Familial Blau syndrome:First molecularly confirmed report from India.

Indian J Ophthalmol 2019 Jan;67(1):165-167

INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_671_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324106PMC
January 2019

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 01 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019

JAK 1/2 Blockade in MDA5 Gain-of-Function.

J Clin Immunol 2018 11 15;38(8):844-846. Epub 2018 Nov 15.

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0563-2
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0563-2DOI Listing
November 2018

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.

Ann Rheum Dis 2019 03 3;78(3):431-433. Epub 2018 Oct 3.

Department of Paediatric Haematology-Immunology and Rheumatology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

View Article

Download full-text PDF

Source
http://ard.bmj.com/lookup/doi/10.1136/annrheumdis-2018-21403
Publisher Site
http://dx.doi.org/10.1136/annrheumdis-2018-214037DOI Listing
March 2019

Taking the STING out of inflammation.

Nat Rev Rheumatol 2018 09;14(9):508-509

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41584-018-0071-zDOI Listing
September 2018

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice.

J Allergy Clin Immunol 2019 02 23;143(2):712-725.e5. Epub 2018 May 23.

CNRS UPR 3572 "Immunopathology and Therapeutic Chemistry"/Laboratory of Excellence Medalis, Institute of Molecular and Cellular Biology (IBMC), Strasbourg, France; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; UFR Sciences Pharmaceutiques, Université de Strasbourg, Illkirch-Graffenstaden, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2018.04.034DOI Listing
February 2019

Sort Your Self Out!

Cell 2018 02;172(4):640-642

Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris 75015, France; Department of Genetics, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00928674183006
Publisher Site
http://dx.doi.org/10.1016/j.cell.2018.01.023DOI Listing
February 2018

An open-label trial of JAK 1/2 blockade in progressive -associated neuroinflammation.

Neurology 2018 02 10;90(6):289-291. Epub 2018 Jan 10.

From The Children's Hospital at Westmead (K.K., S.B., P.B., R.C.D.), University of Sydney; Royal Prince Alfred Hospital (S.C., L.W.); Sydney Children's Hospital (A.J.), Australia; University College London (P.A.B.), Great Ormond Street Institute of Child Health; Manchester Academic Health Science Centre (G.I.R., Y.J.C.), University of Manchester, UK; and INSERM UMR1163 (Y.J.C.), Institute Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004921DOI Listing
February 2018

Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.

Cell Stem Cell 2017 09 10;21(3):319-331.e8. Epub 2017 Aug 10.

Department of Pediatrics/Rady Children's Hospital San Diego, School of Medicine, University of California, San Diego, La Jolla, CA, USA; Department of Cellular & Molecular Medicine, Kavli Institute for Brain and Mind, University of California, San Diego, La Jolla, CA, USA; Stem Cell Program, Center for Academic Research and Training in Anthropogeny (CARTA), University of California, San Diego, La Jolla, CA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.stem.2017.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591075PMC
September 2017

Polymorphisms in IFIH1: the good and the bad.

Nat Immunol 2017 06;18(7):708-709

Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, Paris, France and Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris Descartes University, Paris, France, and Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ni.3765DOI Listing
June 2017

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis Rheumatol 2017 10 22;69(10):2081-2091. Epub 2017 Aug 22.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.40179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099183PMC
October 2017

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

J Interferon Cytokine Res 2017 05;37(5):214-219

1 Department of General Pediatrics, Muenster University Children's Hospital , Muenster, Germany .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/jir.2017.0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439407PMC
May 2017

Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.

Arthritis Rheumatol 2017 07 5;69(7):1495-1501. Epub 2017 Jun 5.

Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine and INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.40122DOI Listing
July 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

J Clin Immunol 2017 Feb 9;37(2):123-132. Epub 2016 Dec 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-016-0359-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325846PMC
February 2017

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

J Exp Med 2016 11 7;213(12):2527-2538. Epub 2016 Nov 7.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, 75015 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20161596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110029PMC
November 2016

Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.

J Neurol Sci 2017 Jan 24;372:443. Epub 2016 Oct 24.

Institut Imagine, Hôpital Necker, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2016.10.037DOI Listing
January 2017

JAK inhibition in STING-associated interferonopathy.

Ann Rheum Dis 2016 12 12;75(12):e75. Epub 2016 Oct 12.

Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/annrheumdis-2016-210504DOI Listing
December 2016

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

Neuropediatrics 2016 Dec 19;47(6):355-360. Epub 2016 Sep 19.

Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0036-1592307DOI Listing
December 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.

View Article

Download full-text PDF

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

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

J Allergy Clin Immunol 2017 01 13;139(1):360-363.e6. Epub 2016 Aug 13.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.06.050DOI Listing
January 2017

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://www.neurology.org/content/86/1/28.full.pdf
Web Search
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

cGMP-AMP synthase paves the way to autoimmunity.

Proc Natl Acad Sci U S A 2015 Oct 8;112(42):12903-4. Epub 2015 Oct 8.

Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Institut Imagine, Hôpital Necker, Paris 75015, 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 M13 9PT, United Kingdom

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1517578112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620876PMC
October 2015

Adult-onset familial vocal fold paralysis.

Ear Nose Throat J 2015 Sep;94(9):E1-3

Department of Otolaryngology-Head and Neck Surgery, NHS Lothian, Lauriston Place, Edinburgh EH3 9HA, UK.

View Article

Download full-text PDF

Source
September 2015

Novel monogenic diseases causing human autoimmunity.

Curr Opin Immunol 2015 Dec 8;37:1-5. Epub 2015 Aug 8.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, 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, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09527915150010
Publisher Site
http://dx.doi.org/10.1016/j.coi.2015.07.008DOI Listing
December 2015

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Pediatrics 2015 Aug;136(2):e544-7

Unité d'Immunologie, Hématologie et Rhumatologie Pédiatriques; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2015-0724DOI Listing
August 2015

Neuromyelitis optica in a child with Aicardi-Goutières syndrome.

Neurology 2015 Jul 1;85(4):381-3. Epub 2015 Jul 1.

From John Radcliffe Hospital (Y.H., A.V.), University of Oxford; The Paediatric Neurosciences Research Group (S.Z.), Royal Hospital for Sick Children, Glasgow; the School of Medicine (S.Z.), College of Medical, Veterinary & Life Sciences, University of Glasgow, UK; INSERM UMR 1163 (Y.J.C.), Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France; Genomic Medicine (Y.J.C.), University of Manchester; and Rainbow House NHS Ayrshire & Arran (N.C.), Irvine, Scotland, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520815PMC
July 2015

Aicardi-Goutières syndrome and the type I interferonopathies.

Nat Rev Immunol 2015 Jul 5;15(7):429-40. Epub 2015 Jun 5.

1] Institut Curie, 26 rue d'Ulm, Paris 75248, France. [2] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 932, Paris 75005, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nri3850
Publisher Site
http://dx.doi.org/10.1038/nri3850DOI Listing
July 2015

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

JAMA Dermatol 2015 Aug;151(8):872-7

Department of Dermatology, St Eloi Hospital, CHRU Montpellier, Montpellier, France2University of Montpellier I, Montpellier, France9INSERM U1058, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2015.0251DOI Listing
August 2015

Human disease phenotypes associated with mutations in TREX1.

J Clin Immunol 2015 Apr 4;35(3):235-43. Epub 2015 Mar 4.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-015-0147-3DOI Listing
April 2015

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Hum Mutat 2015 May 6;36(5):489-95. Epub 2015 Apr 6.

Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22778DOI Listing
May 2015

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

J Immunol 2015 Mar 11;194(6):2819-25. Epub 2015 Feb 11.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Necker Hospital for Sick Children, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1403157DOI Listing
March 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Type I interferonopathies: mendelian type I interferon up-regulation.

Authors:
Yanick J Crow

Curr Opin Immunol 2015 Feb 30;32:7-12. Epub 2014 Oct 30.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Institute Imagine, 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, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.coi.2014.10.005DOI Listing
February 2015

The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.

Biochem J 2015 Feb;466(1):69-76

*Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester M13 9PT, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BJ20140203DOI Listing
February 2015

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Pediatr Neurol 2014 Dec 6;51(6):843-5. Epub 2014 Sep 6.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.017DOI Listing
December 2014

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Pediatr Rheumatol Online J 2014 24;12:44. Epub 2014 Sep 24.

Manchester Centre for Genomic Médecine Interne et Vasculaire of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France ; Paris Descartes University, Paris, France ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, 3rd Floor, Room 309, 24 boulevard du Montparnasse, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1546-0096-12-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181355PMC
May 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Nat Immunol 2014 Sep 27;15(9):839-45. Epub 2014 Jul 27.

Department of Immunology, University of Washington School of Medicine, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ni.2948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139417PMC
September 2014

STING-associated vasculopathy with onset in infancy--a new interferonopathy.

N Engl J Med 2014 Aug 16;371(6):568-71. Epub 2014 Jul 16.

From the Laboratories of Neurogenetics and Neuroinflammation (Y.J.C.) and Human Genetics of Infectious Diseases, Necker Branch (J.-L.C.), Imagine Institute, Necker Hospital for Sick Children, and Paris Descartes University (Y.J.C., J.-L.C.) - both in Paris; Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom (Y.J.C.); and St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, and Howard Hughes Medical Institute - both in New York (J.-L.C.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMe1407246DOI Listing
August 2014

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.

View Article

Download full-text PDF

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

Reply: To PMID 23666743.

Arthritis Rheumatol 2014 Jan;66(1):229-30

Hôpital Femme Mère Enfant, Hospices Civils de Lyon and Université de Lyon, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.38234DOI Listing
January 2014

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.

Dev Med Child Neurol 2014 Jul 30;56(7):612-26. Epub 2013 Dec 30.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/dmcn.12359
Publisher Site
http://dx.doi.org/10.1111/dmcn.12359DOI Listing
July 2014