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    Tytuł:
    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
    Autorzy:
    Lu J; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; The Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York, NY, 10032, USA. .
    Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD, 20892, USA.
    Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD, 20892, USA.
    Moreno CAM; Neurology Department, Universidade de São Paulo, São Paulo, SP, 05508-010, Brazil.
    Lee WP; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory MedicinePerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Leung YY; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory MedicinePerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Harms MB; Department of Neurology, Division of Neuromuscular Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.
    Vardarajan B; The Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York, NY, 10032, USA.
    Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .
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    Corporate Authors:
    Undiagnosed Diseases Network
    Źródło:
    BMC genomics [BMC Genomics] 2024 Jan 26; Vol. 25 (1), pp. 115. Date of Electronic Publication: 2024 Jan 26.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Genome, Human*
    Microsatellite Repeats*/genetics
    Humans ; Germ Cells ; High-Throughput Nucleotide Sequencing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Evidence-based consensus guidelines for ALS genetic testing and counseling.
    Autorzy:
    Roggenbuck J; Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
    Eubank BHF; Health & Physical Education Department, Faculty of Health, Community, & Education, Mount Royal University, 4825 Mount Royal Gate SW, Calgary, Alberta, Canada.
    Wright J; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
    Harms MB; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
    Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
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    Corporate Authors:
    ALS Genetic Testing and Counseling Guidelines Expert Panel
    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 2074-2091. Date of Electronic Publication: 2023 Sep 10.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Amyotrophic Lateral Sclerosis*/diagnosis
    Amyotrophic Lateral Sclerosis*/genetics
    Amyotrophic Lateral Sclerosis*/therapy
    Humans ; C9orf72 Protein/genetics ; Systematic Reviews as Topic ; Meta-Analysis as Topic ; Genetic Testing ; Counseling
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Focused goodness of fit tests for gene set analyses.
    Autorzy:
    Zhang M; Department of Biostatistics and Bioinformatics, Duke University, Durham,27710, North Carolina, USA.; Center for Genomic and Computational Biology, Duke University, Durham,27710, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham,27710, North Carolina, USA.
    Gelfman S; Institute of Genomic Medicine, Columbia University, New York City, 10032, New York, USA.
    Martins Moreno CA; Institute of Genomic Medicine, Columbia University, New York City, 10032, New York, USA.
    McCarthy JM; Department of Biostatistics and Bioinformatics, Duke University, Durham,27710, North Carolina, USA.
    Harms MB; Institute of Genomic Medicine, Columbia University, New York City, 10032, New York, USA.
    Goldstein DB; Institute of Genomic Medicine, Columbia University, New York City, 10032, New York, USA.
    Allen AS; Department of Biostatistics and Bioinformatics, Duke University, Durham,27710, North Carolina, USA.; Center for Genomic and Computational Biology, Duke University, Durham,27710, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham,27710, North Carolina, USA.
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    Źródło:
    Briefings in bioinformatics [Brief Bioinform] 2022 Jan 17; Vol. 23 (1).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Amyotrophic Lateral Sclerosis*/genetics
    Genetic Testing ; Humans ; Phenotype ; Exome Sequencing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genetics of primary lateral sclerosis.
    Autorzy:
    Silani V; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milano, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
    Corcia P; Centre de Reference SLA, CHU Tours, and UMR 1253, iBRAIN, Université de Tours, INSERM, Tours, France.
    Harms MB; Department of Neurology, Columbia University, New York, NY, USA.
    Rouleau G; Montreal Neurological Institute-Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
    Siddique T; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
    Ticozzi N; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milano, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
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    Źródło:
    Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2020 Nov; Vol. 21 (sup1), pp. 28-34.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Amyotrophic Lateral Sclerosis*/genetics
    Motor Neuron Disease*
    Neurodegenerative Diseases*
    Spastic Paraplegia, Hereditary*
    Humans ; Pedigree
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
    Autorzy:
    Rönkkö J; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
    Molchanova S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Molecular and Integrative Biosciences Research Program, Faculty of Bio- and Environmental Sciences, University of Helsinki, Helsinki, Finland.
    Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, New York, USA.
    Pereira EM; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
    Auranen M; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
    Toppila J; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Central Hospital, Helsinki, Finland.
    Kvist J; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
    Ludwig A; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
    Neumann J; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
    Bultynck G; Laboratory of Molecular and Cellular Signaling, Department of Cellular and Molecular Medicine & Leuven Kanker Instituut, KU Leuven, Leuven, Belgium.
    Humblet-Baron S; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
    Liston A; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.; Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom.
    Paetau A; Department of Pathology, HUSLAB and University of Helsinki, Helsinki, Finland.
    Rivera C; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Institut de Neurobiologie de la Méditerranée INMED UMR901, Marseille, France.
    Harms MB; Department of Neurology, Columbia University, New York, New York, USA.
    Tyynismaa H; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
    Ylikallio E; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Oct; Vol. 7 (10), pp. 1962-1972. Date of Electronic Publication: 2020 Sep 19.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Charcot-Marie-Tooth Disease*/genetics
    Charcot-Marie-Tooth Disease*/therapy
    Inositol 1,4,5-Trisphosphate Receptors*/genetics
    Mutation*/genetics
    Adult ; Aged ; Humans ; Middle Aged ; Young Adult ; Genes, Recessive/genetics ; Heterozygote ; Pedigree ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Instrumental learning and cognitive flexibility processes are impaired in children exposed to early life stress.
    Autorzy:
    Harms MB; Deaprtment of Psychology, University of Wisconsin-Madison, Madison, WI, USA.
    Shannon Bowen KE; Deaprtment of Psychology, University of Wisconsin-Madison, Madison, WI, USA.
    Hanson JL; Deaprtment of Psychology, University of Wisconsin-Madison, Madison, WI, USA.
    Pollak SD; Deaprtment of Psychology, University of Wisconsin-Madison, Madison, WI, USA.
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    Źródło:
    Developmental science [Dev Sci] 2018 Jul; Vol. 21 (4), pp. e12596. Date of Electronic Publication: 2017 Oct 19.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Child Abuse*
    Brain/*physiopathology
    Cognition Disorders/*etiology
    Stress, Psychological/*complications
    Adolescent ; Case-Control Studies ; Family ; Female ; Humans ; Learning Disabilities/etiology ; Learning Disabilities/physiopathology ; Magnetic Resonance Imaging ; Male ; Neuropsychological Tests ; Stress, Psychological/etiology ; Stress, Psychological/physiopathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    C9orf72 is required for proper macrophage and microglial function in mice.
    Autorzy:
    O'Rourke JG; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Bogdanik L; The Jackson Laboratory, Bar Harbor, ME, USA.
    Yáñez A; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Lall D; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Wolf AJ; Division of Biomedical Sciences, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Muhammad AK; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Ho R; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Carmona S; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Vit JP; Division of Biomedical Sciences, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Zarrow J; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Kim KJ; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Bell S; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Harms MB; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
    Miller TM; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
    Dangler CA; The Jackson Laboratory, Bar Harbor, ME, USA.
    Underhill DM; Division of Biomedical Sciences, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Goodridge HS; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
    Lutz CM; The Jackson Laboratory, Bar Harbor, ME, USA.
    Baloh RH; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. Department of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2016 Mar 18; Vol. 351 (6279), pp. 1324-9.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Amyotrophic Lateral Sclerosis/*immunology
    Frontotemporal Dementia/*immunology
    Guanine Nucleotide Exchange Factors/*physiology
    Macrophages/*immunology
    Microglia/*immunology
    Myeloid Cells/*immunology
    Proteins/*physiology
    Aging/immunology ; Amyotrophic Lateral Sclerosis/genetics ; Animals ; C9orf72 Protein ; Frontotemporal Dementia/genetics ; Gene Knockdown Techniques ; Guanine Nucleotide Exchange Factors/genetics ; Heterozygote ; Humans ; Lymphatic Diseases/genetics ; Lymphatic Diseases/immunology ; Mice ; Mice, Knockout ; Proteins/genetics ; Rats ; Splenomegaly/genetics ; Splenomegaly/immunology
    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.
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    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:
    Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
    Autorzy:
    Johnson JO; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
    Pioro EP; Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
    Boehringer A; Division of Neurology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
    Chia R; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
    Feit H; Department of Neurology, Henry Ford Hospital, Detroit, MI 48202, USA.
    Renton AE; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
    Pliner HA; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
    Abramzon Y; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
    Marangi G; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.; Institute of Medical Genetics, Catholic University of Sacred Heart, 10100 Rome, Italy.
    Winborn BJ; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
    Gibbs JR; Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
    Morgan S; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Shoai M; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Hardy J; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Pittman A; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Orrell RW; Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK.
    Malaspina A; Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
    Sidle KC; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
    Fratta P; Department of Neurodegenerative Disease, University College London, Queen Square, London WC1N 3BG, UK.
    Harms MB; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
    Baloh RH; Department of Neurology, Cedars-Sinai Medical Center, 8730 Alden Drive, Los Angeles, CA 90048, USA.
    Pestronk A; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
    Weihl CC; Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
    Rogaeva E; Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON, M5S 3H2, Canada.
    Zinman L; Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, M4N 3M5, Canada.
    Drory VE; Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
    Borghero G; Department of Neurology, Azienda Universitaria-Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
    Mora G; ALS Center, Salvatore Maugeri Foundation, Milan, Italy.
    Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, 10126 Turin, Italy.
    Rothstein JD; Brain Science Institute and Department of Neurology, Johns Hopkins Hospital, 855 N. Wolfe Street, Baltimore, MD 21205, USA.
    Drepper C; Institute for Clinical Neurobiology, University of Würzburg, D-97078 Würzburg, Germany.; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, D-97080 Würzburg, Germany.
    Sendtner M; Institute for Clinical Neurobiology, University of Würzburg, D-97078 Würzburg, Germany.
    Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
    Taylor JP; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
    Cookson MR; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
    Restagno G; Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, 10126 Turin, Italy.
    Sabatelli M; Neurological Institute, Catholic University and I.C.O.M.M. Association for ALS Research, 10100 Rome, Italy.
    Bowser R; Division of Neurology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
    Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, 10126 Turin, Italy.
    Traynor BJ; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.; Brain Science Institute and Department of Neurology, Johns Hopkins Hospital, 855 N. Wolfe Street, Baltimore, MD 21205, USA.
    Pokaż więcej
    Corporate Authors:
    ITALSGEN
    Źródło:
    Nature neuroscience [Nat Neurosci] 2014 May; Vol. 17 (5), pp. 664-666. 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:
    Family Health*
    Amyotrophic Lateral Sclerosis/*genetics
    Genetic Predisposition to Disease/*genetics
    Mutation/*genetics
    Nuclear Matrix-Associated Proteins/*genetics
    RNA-Binding Proteins/*genetics
    Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/pathology ; Computational Biology ; DNA Mutational Analysis ; DNA-Binding Proteins/metabolism ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Neurologic Examination ; Nuclear Matrix-Associated Proteins/metabolism ; RNA-Binding Proteins/metabolism ; Spinal Cord/metabolism ; Spinal Cord/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Theory of mind.
    Autorzy:
    Carlson SM; Institute of Child Development, University of Minnesota, Minneapolis, MN, USA.
    Koenig MA; Institute of Child Development, University of Minnesota, Minneapolis, MN, USA.
    Harms MB; Institute of Child Development, University of Minnesota, Minneapolis, MN, USA.
    Pokaż więcej
    Źródło:
    Wiley interdisciplinary reviews. Cognitive science [Wiley Interdiscip Rev Cogn Sci] 2013 Jul; Vol. 4 (4), pp. 391-402. Date of Electronic Publication: 2013 Mar 18.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Diminished sensitivity to sad facial expressions in high functioning autism spectrum disorders is associated with symptomatology and adaptive functioning.
    Autorzy:
    Wallace GL; Laboratory of Brain & Cognition, National Institute of Mental Health, 10 Center Drive, Room 4C104, MSC 1366, Bethesda, MD 20892-1366, USA. />Case LK
    Harms MB
    Silvers JA
    Kenworthy L
    Martin A
    Pokaż więcej
    Źródło:
    Journal of autism and developmental disorders [J Autism Dev Disord] 2011 Nov; Vol. 41 (11), pp. 1475-86.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural
    MeSH Terms:
    Adaptation, Psychological*
    Emotions*
    Facial Expression*
    Child Development Disorders, Pervasive/*psychology
    Adolescent ; Case-Control Studies ; Child ; Female ; Humans ; Intelligence ; Male ; Neuropsychological Tests ; Severity of Illness Index ; Visual Perception
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Adaptive behavior ratings correlate with symptomatology and IQ among individuals with high-functioning autism spectrum disorders.
    Autorzy:
    Kenworthy L; Laboratory of Brain & Cognition, National Institute of Mental Health, Bethesda, MD, USA. />Case L
    Harms MB
    Martin A
    Wallace GL
    Pokaż więcej
    Źródło:
    Journal of autism and developmental disorders [J Autism Dev Disord] 2010 Apr; Vol. 40 (4), pp. 416-23.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural
    MeSH Terms:
    Adaptation, Psychological*
    Intelligence*
    Neuropsychological Tests*/standards
    Social Behavior*
    Child Development Disorders, Pervasive/*psychology
    Adolescent ; Case-Control Studies ; Child ; Female ; Humans ; Male ; Severity of Illness Index ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-12 z 12

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