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    Wyświetlanie 1-17 z 17
    Tytuł:
    RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
    Autorzy:
    Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
    Green LMC; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom.
    Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
    Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.
    Aiello C; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
    Smith D; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
    Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Disease, Fondazione IRCCS Istituto Neurologica 'C.Besta', Milano, Italy.
    Beerepoot S; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
    Hertecant J; Paediatric Genetic and Metabolic Service, Tawam Hospital, Al Ain, United Arab Emirates.
    von Spiczak S; DRK-Northern German Epilepsy Centre for Children and Adolescents, Schwentinental-Raisdorf, Germany.; Department of Pediatrics II, University Medical Center Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany.
    Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
    Emrick L; Division of Neurology and Developmental Neurosciences, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Fraser J; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
    Russell L; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.
    Bernard G; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; MyeliNeuroGene Laboratory, Research Institutes of the McGill University Health Centre, Montreal, Canada.
    Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Koenig MK; Department of Paediatrics, University of Texas McGovern Medical School, Houston, Texas.
    Moroni I; Department of Paediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
    Cappuccio G; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
    Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
    Rhee J; Department of Neurology, Children's National Health Systems, Washington, District of Columbia.
    Mendelsohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California.
    Helbig I; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Pediatric Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Helbig K; Division of Neurology, Roberts Center for Pediatric Research, Philadelphia, Pennsylvania.
    Muhle H; Department of Pediatrics II, University Medical Center Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany.
    Ismayl O; Department of Child Neurology, Sheikh Khalifah Medical City, Abu Dhabi, United Arab Emirates.
    Vanderver AL; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California.
    Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
    van der Knaap MS; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.; Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands.
    Wolf NI; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Jan; Vol. 7 (1), pp. 83-93. Date of Electronic Publication: 2019 Dec 08.
    Typ publikacji:
    Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Association Studies*
    Arginine-tRNA Ligase/*genetics
    Hereditary Central Nervous System Demyelinating Diseases/*genetics
    Hereditary Central Nervous System Demyelinating Diseases/*pathology
    Hereditary Central Nervous System Demyelinating Diseases/*physiopathology
    Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Cross-Sectional Studies ; Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging ; Humans ; Infant ; Magnetic Resonance Imaging ; Severity of Illness Index ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
    Autorzy:
    Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Del Toro Duany Y; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA.
    Jenkinson EM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Forte GM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Anderson BH; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Ariaudo G; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.; Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.
    Bader-Meunier B; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France.
    Baildam EM; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
    Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
    Beresford MW; Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
    Casarano M; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
    Chouchane M; Service de Pédiatrie 1, CHU de Dijon, Dijon, France.
    Cimaz R; AOU Meyer and University of Florence, Italy.
    Collins AE; Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine, USA.
    Cordeiro NJ; Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland, UK.
    Dale RC; Neuroimmunology group, the Children's Hospital at Westmead, University of Sydney, Australia.
    Davidson JE; Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK.
    De Waele L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
    Desguerre I; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France.
    Faivre L; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France.
    Fazzi E; Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia, Italy.
    Isidor B; Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes, France.
    Lagae L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
    Latchman AR; Division of General Pediatrics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
    Lebon P; Université et Faculté de Medecine Paris Descartes, Paris, France.
    Li C; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
    Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
    Lourenço CM; Clinics Hospital of Ribeirao Preto, University of São Paulo, Brasil.
    Mancardi MM; O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa, Italy.
    Masurel-Paulet A; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France.
    McInnes IB; Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow, UK.
    Menezes MP; Institute for Neuroscience and Muscle Research, the Children's Hospital at Westmead, University of Sydney, Australia.
    Mignot C; AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris, France.
    O'Sullivan J; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Orcesi S; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
    Picco PP; Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy.
    Riva E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy.
    Robinson RA; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
    Rodriguez D; AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris, France.; UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris, France.
    Salvatici E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy.
    Scott C; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa.
    Szybowska M; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
    Tolmie JL; Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland, UK.
    Vanderver A; Department of Paediatric Neurology, Children's National Medical Center, Washington DC, USA.
    Vanhulle C; Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen, France.
    Vieira JP; Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal.
    Webb K; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa.
    Whitney RN; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada.
    Williams SG; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.
    Zuberi SM; Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK.; School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK.
    Hur S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA.
    Crow YJ; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2014 May; Vol. 46 (5), pp. 503-509. Date of Electronic Publication: 2014 Mar 30.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Models, Molecular*
    Phenotype*
    Autoimmune Diseases of the Nervous System/*genetics
    DEAD-box RNA Helicases/*genetics
    Interferon Type I/*immunology
    Mutation/*genetics
    Nervous System Malformations/*genetics
    Signal Transduction/*genetics
    Analysis of Variance ; Autoimmune Diseases of the Nervous System/immunology ; Base Sequence ; DEAD-box RNA Helicases/chemistry ; Electrophoretic Mobility Shift Assay ; Exome/genetics ; HEK293 Cells ; Humans ; Interferon-Induced Helicase, IFIH1 ; Microsatellite Repeats/genetics ; Molecular Sequence Data ; Nervous System Malformations/immunology ; Real-Time Polymerase Chain Reaction ; Sequence Analysis, DNA ; Spectrum Analysis
    SCR Disease Name:
    Aicardi-Goutieres syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
    Autorzy:
    Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK.
    Kasher PR
    Forte GM
    Mannion NM
    Greenwood SM
    Szynkiewicz M
    Dickerson JE
    Bhaskar SS
    Zampini M
    Briggs TA
    Jenkinson EM
    Bacino CA
    Battini R
    Bertini E
    Brogan PA
    Brueton LA
    Carpanelli M
    De Laet C
    de Lonlay P
    del Toro M
    Desguerre I
    Fazzi E
    Garcia-Cazorla A
    Heiberg A
    Kawaguchi M
    Kumar R
    Lin JP
    Lourenco CM
    Male AM
    Marques W Jr
    Mignot C
    Olivieri I
    Orcesi S
    Prabhakar P
    Rasmussen M
    Robinson RA
    Rozenberg F
    Schmidt JL
    Steindl K
    Tan TY
    van der Merwe WG
    Vanderver A
    Vassallo G
    Wakeling EL
    Wassmer E
    Whittaker E
    Livingston JH
    Lebon P
    Suzuki T
    McLaughlin PJ
    Keegan LP
    O'Connell MA
    Lovell SC
    Crow YJ
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2012 Nov; Vol. 44 (11), pp. 1243-8. Date of Electronic Publication: 2012 Sep 23.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Interferon Type I*/genetics
    Interferon Type I*/metabolism
    Adenosine Deaminase/*genetics
    Autoimmune Diseases of the Nervous System/*genetics
    Nervous System Malformations/*genetics
    RNA, Double-Stranded/*metabolism
    Alu Elements/genetics ; Animals ; Exome ; Gene Expression ; Humans ; Mice ; Mutation ; Protein Conformation ; RNA, Double-Stranded/genetics ; RNA-Binding Proteins ; Sequence Analysis, DNA ; Signal Transduction ; Structure-Activity Relationship
    SCR Disease Name:
    Aicardi-Goutieres syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
    Autorzy:
    Anderson BH; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK.
    Kasher PR
    Mayer J
    Szynkiewicz M
    Jenkinson EM
    Bhaskar SS
    Urquhart JE
    Daly SB
    Dickerson JE
    O'Sullivan J
    Leibundgut EO
    Muter J
    Abdel-Salem GM
    Babul-Hirji R
    Baxter P
    Berger A
    Bonafé L
    Brunstom-Hernandez JE
    Buckard JA
    Chitayat D
    Chong WK
    Cordelli DM
    Ferreira P
    Fluss J
    Forrest EH
    Franzoni E
    Garone C
    Hammans SR
    Houge G
    Hughes I
    Jacquemont S
    Jeannet PY
    Jefferson RJ
    Kumar R
    Kutschke G
    Lundberg S
    Lourenço CM
    Mehta R
    Naidu S
    Nischal KK
    Nunes L
    Ounap K
    Philippart M
    Prabhakar P
    Risen SR
    Schiffmann R
    Soh C
    Stephenson JB
    Stewart H
    Stone J
    Tolmie JL
    van der Knaap MS
    Vieira JP
    Vilain CN
    Wakeling EL
    Wermenbol V
    Whitney A
    Lovell SC
    Meyer S
    Livingston JH
    Baerlocher GM
    Black GC
    Rice GI
    Crow YJ
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2012 Jan 22; Vol. 44 (3), pp. 338-42. Date of Electronic Publication: 2012 Jan 22.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Abnormalities, Multiple/*genetics
    Genetic Predisposition to Disease/*genetics
    Retinal Telangiectasis/*genetics
    Telomere/*pathology
    Telomere-Binding Proteins/*genetics
    Base Sequence ; Flow Cytometry ; Histones/metabolism ; Molecular Sequence Data ; Retinal Telangiectasis/pathology ; Sequence Analysis, DNA/methods
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
    Autorzy:
    Crow YJ; Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK. />Hayward BE
    Parmar R
    Robins P
    Leitch A
    Ali M
    Black DN
    van Bokhoven H
    Brunner HG
    Hamel BC
    Corry PC
    Cowan FM
    Frints SG
    Klepper J
    Livingston JH
    Lynch SA
    Massey RF
    Meritet JF
    Michaud JL
    Ponsot G
    Voit T
    Lebon P
    Bonthron DT
    Jackson AP
    Barnes DE
    Lindahl T
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2006 Aug; Vol. 38 (8), pp. 917-20. Date of Electronic Publication: 2006 Jul 16.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Exodeoxyribonucleases/*genetics
    Heredodegenerative Disorders, Nervous System/*enzymology
    Heredodegenerative Disorders, Nervous System/*genetics
    Phosphoproteins/*genetics
    Proteins/*genetics
    Animals ; Base Sequence ; DNA/genetics ; Exodeoxyribonucleases/deficiency ; Heredodegenerative Disorders, Nervous System/immunology ; Humans ; Immunity, Innate ; Mice ; Mice, Knockout ; Molecular Sequence Data ; Phosphoproteins/deficiency ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-17 z 17

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