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    Wyświetlanie 1-11 z 11
    Tytuł:
    Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.
    Autorzy:
    Schipper LJ; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Raaphorst J; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. .; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. .
    Aronica E; Department of Neuropathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    de Haan R; Clinical Research Unit, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Troost D; Department of Neuropathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Pokaż więcej
    Źródło:
    Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2016 Oct; Vol. 42 (6), pp. 547-60.
    Typ publikacji:
    Journal Article; Review; Systematic Review
    MeSH Terms:
    Amyotrophic Lateral Sclerosis/*pathology
    Brain/*pathology
    Frontotemporal Dementia/*pathology
    Inclusion Bodies/*pathology
    Spinal Cord/*pathology
    Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/genetics ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; DNA-Binding Proteins/metabolism ; Female ; Frontotemporal Dementia/genetics ; Humans ; Male ; Middle Aged ; RNA-Binding Proteins/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Complement activation at the motor end-plates in amyotrophic lateral sclerosis.
    Autorzy:
    Bahia El Idrissi N; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
    Bosch S; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
    Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
    Aronica E; Department of Neuropathology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
    Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands. f.baas@amc.nl.
    Troost D; Department of Neuropathology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
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    Źródło:
    Journal of neuroinflammation [J Neuroinflammation] 2016 Apr 07; Vol. 13 (1), pp. 72. Date of Electronic Publication: 2016 Apr 07.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Complement Activation*
    Motor Endplate*
    Amyotrophic Lateral Sclerosis/*physiopathology
    Aged ; Aged, 80 and over ; Animals ; Biopsy ; CD55 Antigens/metabolism ; CD59 Antigens/metabolism ; Complement C1q/metabolism ; Complement Membrane Attack Complex/metabolism ; Female ; Humans ; Intercostal Muscles/pathology ; Male ; Mice ; Middle Aged ; Neurofilament Proteins/metabolism ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase-1/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
    Autorzy:
    Cirulli ET; Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC 27708, USA.
    Lasseigne BN; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Petrovski S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
    Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
    Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
    Couthouis J; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
    Lu YF; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Wang Q; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Krueger BJ; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Ren Z; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Keebler J; Duke University School of Medicine, Durham, NC 27708, USA.
    Han Y; Duke University School of Medicine, Durham, NC 27708, USA.
    Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Boone BE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Wimbish JR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Waite LL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Jones AL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Carulli JP; Biogen Idec, Cambridge, MA 02142, USA.
    Day-Williams AG; Biogen Idec, Cambridge, MA 02142, USA.
    Staropoli JF; Biogen Idec, Cambridge, MA 02142, USA.
    Xin WW; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
    Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
    Raphael AR; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
    McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
    Cady J; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
    Vianney de Jong JM; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
    Kenna KP; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
    Smith BN; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    Topp S; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    Miller J; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    Gkazi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
    Veldink J; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
    Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
    Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
    Shaw CE; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
    Baloh RH; Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
    Appel S; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
    Simpson E; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
    Lagier-Tourenne C; Ludwig Institute for Cancer Research and Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
    Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
    Gibson S; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
    Trojanowski JQ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Elman L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    McCluskey L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Grossman M; Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
    Shneider NA; Department of Neurology, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA.
    Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
    Ravits JM; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
    Glass JD; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
    Sims KB; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
    Van Deerlin VM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
    Maniatis T; Department of Biochemistry & Molecular Biophysics, Columbia University, New York, NY 10027, USA.
    Hayes SD; Biogen Idec, Cambridge, MA 02142, USA. Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
    Ordureau A; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
    Swarup S; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
    Landers J; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
    Baas F; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
    Allen AS; Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27708, USA.
    Bedlack RS; Duke ALS Clinic and Durham VA Medical Center, Durham, NC 27708, USA.
    Harper JW; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
    Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
    Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
    Brown R; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
    Harms MB; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
    Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Harris T; Biogen Idec, Cambridge, MA 02142, USA. .
    Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
    Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
    Pokaż więcej
    Corporate Authors:
    FALS Sequencing Consortium
    Źródło:
    Science (New York, N.Y.) [Science] 2015 Mar 27; Vol. 347 (6229), pp. 1436-41. Date of Electronic Publication: 2015 Feb 19.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Genetic Predisposition to Disease*
    Amyotrophic Lateral Sclerosis/*genetics
    Autophagy/*genetics
    Exome/*genetics
    Protein Serine-Threonine Kinases/*genetics
    Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cell Cycle Proteins ; Female ; Genes ; Genetic Association Studies ; Humans ; Male ; Membrane Transport Proteins ; Middle Aged ; Protein Binding ; Protein Serine-Threonine Kinases/metabolism ; Risk ; Sequence Analysis, DNA ; Sequestosome-1 Protein ; Transcription Factor TFIIIA/genetics ; Transcription Factor TFIIIA/metabolism ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
    Autorzy:
    van Es MA; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
    van Vught PW
    Blauw HM
    Franke L
    Saris CG
    Van den Bosch L
    de Jong SW
    de Jong V
    Baas F
    van't Slot R
    Lemmens R
    Schelhaas HJ
    Birve A
    Sleegers K
    Van Broeckhoven C
    Schymick JC
    Traynor BJ
    Wokke JH
    Wijmenga C
    Robberecht W
    Andersen PM
    Veldink JH
    Ophoff RA
    van den Berg LH
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2008 Jan; Vol. 40 (1), pp. 29-31. Date of Electronic Publication: 2007 Dec 16.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Predisposition to Disease*
    Amyotrophic Lateral Sclerosis/*genetics
    Nerve Tissue Proteins/*genetics
    Peptide Hydrolases/*genetics
    Potassium Channels/*genetics
    Case-Control Studies ; Chromosomes, Human, Pair 7 ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Humans ; Polymorphism, Single Nucleotide ; White People/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9 ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.
    Autorzy:
    Schipper, L. J.
    Raaphorst, J.
    Aronica, E.
    Baas, F.
    Haan, R.
    Visser, M.
    Troost, D.
    Pokaż więcej
    Temat:
    DISEASE prevalence
    CELLULAR inclusions
    BRAIN abnormalities
    SPINAL cord abnormalities
    C9ORF72 gene
    PROTEIN folding
    AMYOTROPHIC lateral sclerosis
    FRONTOTEMPORAL dementia
    Źródło:
    Neuropathology & Applied Neurobiology; Oct2016, Vol. 42 Issue 6, p547-560, 14p
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-11 z 11

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