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    Wyświetlanie 1-14 z 14
    Tytuł:
    Reconsidering the causality of TIA1 mutations in ALS.
    Autorzy:
    van der Spek RA; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    van Rheenen W; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    Pulit SL; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    Kenna KP; b Department of Neurology , University of Massachusetts Medical School , Worcester , MA , USA.
    Ticozzi N; c Department of Neurology and Laboratory of Neuroscience , IRCCS Istituto Auxologico Italiano , Milan , Italy.; d Department of Pathophysiology and Transplantation , 'Dino Ferrari' Center-Università degli Studi di Milano , Milan , Italy.
    Kooyman M; e SURFsara , Amsterdam , The Netherlands.
    Mclaughlin RL; f Population Genetics Laboratory , Smurfit Institute of Genetics, Trinity College Dublin , Dublin , Republic of Ireland.
    Moisse M; g Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND) , KU Leuven - University of Leuven , Leuven , Belgium.; h Laboratory of Neurobiology , VIB, Center for Brain & Disease Research , Leuven , Belgium.; i Department of Neurology , University Hospitals Leuven , Leuven , Belgium.
    van Eijk KR; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    van Vugt JJFA; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    Iacoangeli A; j Department of Biostatistics and Health Informatics , Institute of Psychiatry, Psychology and Neuroscience, King's College London , London , UK.
    Andersen P; k Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden.
    Nazli Basak A; l Suna and Inan Kırac Foundatıon Neurodegeneration Research Laboratory , Bogazici University , Istanbul , Turkey.
    Blair I; m Department of Biomedical Sciences, Faculty of Medicine and Health Sciences , Macquarie University , Sydney , New South Wales , Australia.
    de Carvalho M; n Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.; o Department of Neurosciences , Hospital de Santa Maria-CHLN , Lisbon , Portugal.
    Chio A; p 'Rita Levi Montalcini' Department of Neuroscience , ALS Centre, University of Torino , Turin , Italy.; q Department of Neuroscience , Azienda Ospedaliera Città della Salute e della Scienza , Turin , Italy.
    Corcia P; r Centre SLA , CHRU de Tours , Tours , France.; s Federation des Centres SLA Tours and Limoges , LITORALS , Tours , France.
    Couratier P; r Centre SLA , CHRU de Tours , Tours , France.; s Federation des Centres SLA Tours and Limoges , LITORALS , Tours , France.
    Drory VE; t Department of Neurology Tel-Aviv Sourasky Medical Centre , Israel.
    Glass JD; u Department Neurology , Emory University School of Medicine , Atlanta , GA , USA.; v Emory ALS Center , Emory University School of Medicine , Atlanta , GA , USA.
    Hardiman O; f Population Genetics Laboratory , Smurfit Institute of Genetics, Trinity College Dublin , Dublin , Republic of Ireland.; w Department of Neurology , Beaumont Hospital , Dublin , Republic of Ireland.
    Mora JS; x ALS Unit , Hospital San Rafael , Madrid , Spain.
    Morrison KE; y Faculty of Medicine , University of Southampton , Southampton , UK.
    Mitne-Neto M; z Human Genome Research Center , Bioscience Institute, University of São Paulo , SP , Brazil.
    Robberecht W; g Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND) , KU Leuven - University of Leuven , Leuven , Belgium.; h Laboratory of Neurobiology , VIB, Center for Brain & Disease Research , Leuven , Belgium.; i Department of Neurology , University Hospitals Leuven , Leuven , Belgium.
    Shaw PJ; aa Sheffield Institute for Translational Neuroscience (SITraN) , University of Sheffield , Sheffield , UK.
    Panadés MP; ab Neurology Department , Hospital Universitari de Bellvitge , Barcelona , Spain.
    van Damme P; g Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND) , KU Leuven - University of Leuven , Leuven , Belgium.; h Laboratory of Neurobiology , VIB, Center for Brain & Disease Research , Leuven , Belgium.; i Department of Neurology , University Hospitals Leuven , Leuven , Belgium.
    Silani V; c Department of Neurology and Laboratory of Neuroscience , IRCCS Istituto Auxologico Italiano , Milan , Italy.; d Department of Pathophysiology and Transplantation , 'Dino Ferrari' Center-Università degli Studi di Milano , Milan , Italy.
    Gotkine M; ac Department of Neurology , The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center , Israel.
    Weber M; ad Neuromuscular Diseases Unit/ALS Clinic , Kantonsspital St. Gallen , St. Gallen , Switzerland.
    van Es MA; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    Landers JE; b Department of Neurology , University of Massachusetts Medical School , Worcester , MA , USA.
    Al-Chalabi A; ae Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London , UK.
    van den Berg LH; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
    Veldink JH; a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
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    Corporate Authors:
    PROJECT MINE ALS SEQUENCING CONSORTIUM
    Źródło:
    Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2018 Feb; Vol. 19 (1-2), pp. 1-3. Date of Electronic Publication: 2017 Dec 13.
    Typ publikacji:
    Editorial
    MeSH Terms:
    Genetic Predisposition to Disease*
    Amyotrophic Lateral Sclerosis/*genetics
    Mutation/*genetics
    T-Cell Intracellular Antigen-1/*genetics
    Genetic Testing/methods ; Humans
    Opinia redakcyjna
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.
    Autorzy:
    van Blitterswijk M; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
    Wang ET
    Friedman BA
    Keagle PJ
    Lowe P
    Leclerc AL
    van den Berg LH
    Housman DE
    Veldink JH
    Landers JE
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2013; Vol. 8 (4), pp. e60788. Date of Electronic Publication: 2013 Apr 08.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Sequence Analysis, RNA*
    Amyotrophic Lateral Sclerosis/*genetics
    RNA-Binding Protein FUS/*genetics
    Exons/genetics ; HEK293 Cells ; Humans ; Introns/genetics ; RNA, Small Interfering/genetics ; RNA-Binding Protein FUS/deficiency
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
    Autorzy:
    Wu CH; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
    Fallini C
    Ticozzi N
    Keagle PJ
    Sapp PC
    Piotrowska K
    Lowe P
    Koppers M
    McKenna-Yasek D
    Baron DM
    Kost JE
    Gonzalez-Perez P
    Fox AD
    Adams J
    Taroni F
    Tiloca C
    Leclerc AL
    Chafe SC
    Mangroo D
    Moore MJ
    Zitzewitz JA
    Xu ZS
    van den Berg LH
    Glass JD
    Siciliano G
    Cirulli ET
    Goldstein DB
    Salachas F
    Meininger V
    Rossoll W
    Ratti A
    Gellera C
    Bosco DA
    Bassell GJ
    Silani V
    Drory VE
    Brown RH Jr
    Landers JE
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    Źródło:
    Nature [Nature] 2012 Aug 23; Vol. 488 (7412), pp. 499-503.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Amyotrophic Lateral Sclerosis/*genetics
    Amyotrophic Lateral Sclerosis/*pathology
    Genetic Predisposition to Disease/*genetics
    Mutant Proteins/*metabolism
    Mutation/*genetics
    Profilins/*genetics
    Profilins/*metabolism
    Actins/metabolism ; Amino Acid Sequence ; Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/metabolism ; Animals ; Axons/metabolism ; Axons/pathology ; Cells, Cultured ; Exome/genetics ; Female ; Growth Cones/metabolism ; High-Throughput Nucleotide Sequencing ; Humans ; Jews/genetics ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Motor Neurons/cytology ; Motor Neurons/metabolism ; Mutant Proteins/genetics ; Pedigree ; Protein Conformation ; Ubiquitination ; White People/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
    Autorzy:
    Ramos EM; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
    Keagle P
    Gillis T
    Lowe P
    Mysore JS
    Leclerc AL
    Ratti A
    Ticozzi N
    Gellera C
    Gusella JF
    Silani V
    Alonso I
    Brown RH Jr
    MacDonald ME
    Landers JE
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    Źródło:
    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2012 May; Vol. 13 (3), pp. 265-9. Date of Electronic Publication: 2012 Mar 13.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Trinucleotide Repeat Expansion*
    Amyotrophic Lateral Sclerosis/*genetics
    Huntington Disease/*genetics
    Nerve Tissue Proteins/*genetics
    Adult ; Aged ; Aged, 80 and over ; Alleles ; Amyotrophic Lateral Sclerosis/metabolism ; Humans ; Huntingtin Protein ; Middle Aged ; Peptides/metabolism ; Prevalence ; Risk Factors ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
    Autorzy:
    Diekstra FP; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
    Saris CG
    van Rheenen W
    Franke L
    Jansen RC
    van Es MA
    van Vught PW
    Blauw HM
    Groen EJ
    Horvath S
    Estrada K
    Rivadeneira F
    Hofman A
    Uitterlinden AG
    Robberecht W
    Andersen PM
    Melki J
    Meininger V
    Hardiman O
    Landers JE
    Brown RH Jr
    Shatunov A
    Shaw CE
    Leigh PN
    Al-Chalabi A
    Ophoff RA
    van den Berg LH
    Veldink JH
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2012; Vol. 7 (4), pp. e35333. Date of Electronic Publication: 2012 Apr 11.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Gene Expression Profiling*
    Genome-Wide Association Study*
    Amyotrophic Lateral Sclerosis/*genetics
    Cholestanetriol 26-Monooxygenase/*genetics
    Quantitative Trait Loci/*genetics
    Genetic Predisposition to Disease ; Genotype ; HapMap Project ; Humans ; Linkage Disequilibrium ; Motor Neurons/pathology ; Pedigree ; Polymorphism, Single Nucleotide ; Xanthomatosis, Cerebrotendinous/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.
    Autorzy:
    Wain LV; Department of Health Sciences, University of Leicester, Leicester, United Kingdom.
    Pedroso I
    Landers JE
    Breen G
    Shaw CE
    Leigh PN
    Brown RH
    Tobin MD
    Al-Chalabi A
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2009 Dec 04; Vol. 4 (12), pp. e8175. Date of Electronic Publication: 2009 Dec 04.
    Typ publikacji:
    Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Predisposition to Disease*
    Genome-Wide Association Study*
    Amyotrophic Lateral Sclerosis/*genetics
    DNA Copy Number Variations/*genetics
    Genetic Loci/*genetics
    Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Chromosomes, Human, Pair 11/genetics ; Cluster Analysis ; Female ; Gene Frequency/genetics ; Humans ; Male ; Middle Aged ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
    Autorzy:
    van Es MA; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
    Veldink JH
    Saris CG
    Blauw HM
    van Vught PW
    Birve A
    Lemmens R
    Schelhaas HJ
    Groen EJ
    Huisman MH
    van der Kooi AJ
    de Visser M
    Dahlberg C
    Estrada K
    Rivadeneira F
    Hofman A
    Zwarts MJ
    van Doormaal PT
    Rujescu D
    Strengman E
    Giegling I
    Muglia P
    Tomik B
    Slowik A
    Uitterlinden AG
    Hendrich C
    Waibel S
    Meyer T
    Ludolph AC
    Glass JD
    Purcell S
    Cichon S
    Nöthen MM
    Wichmann HE
    Schreiber S
    Vermeulen SH
    Kiemeney LA
    Wokke JH
    Cronin S
    McLaughlin RL
    Hardiman O
    Fumoto K
    Pasterkamp RJ
    Meininger V
    Melki J
    Leigh PN
    Shaw CE
    Landers JE
    Al-Chalabi A
    Brown RH Jr
    Robberecht W
    Andersen PM
    Ophoff RA
    van den Berg LH
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2009 Oct; Vol. 41 (10), pp. 1083-7. Date of Electronic Publication: 2009 Sep 06.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Chromosomes, Human, Pair 9*
    Genome-Wide Association Study*
    Polymorphism, Single Nucleotide*
    Amyotrophic Lateral Sclerosis/*genetics
    Chromosomes, Human, Pair 19 ; Disease Susceptibility ; Genome, Human ; Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
    Autorzy:
    Kwiatkowski TJ Jr; Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA. />Bosco DA
    Leclerc AL
    Tamrazian E
    Vanderburg CR
    Russ C
    Davis A
    Gilchrist J
    Kasarskis EJ
    Munsat T
    Valdmanis P
    Rouleau GA
    Hosler BA
    Cortelli P
    de Jong PJ
    Yoshinaga Y
    Haines JL
    Pericak-Vance MA
    Yan J
    Ticozzi N
    Siddique T
    McKenna-Yasek D
    Sapp PC
    Horvitz HR
    Landers JE
    Brown RH Jr
    Pokaż więcej
    Źródło:
    Science (New York, N.Y.) [Science] 2009 Feb 27; Vol. 323 (5918), pp. 1205-8.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Mutation, Missense*
    Amyotrophic Lateral Sclerosis/*genetics
    Chromosomes, Human, Pair 16/*genetics
    RNA-Binding Protein FUS/*genetics
    RNA-Binding Protein FUS/*metabolism
    Age of Onset ; Amino Acid Substitution ; Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Brain/pathology ; Cell Line, Tumor ; Cell Nucleus/metabolism ; Cytoplasm/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Exons ; Female ; Humans ; Male ; Mice ; Motor Neurons/chemistry ; Motor Neurons/metabolism ; Motor Neurons/ultrastructure ; Mutant Proteins/chemistry ; Mutant Proteins/genetics ; Mutant Proteins/metabolism ; Neurons/metabolism ; Neurons/ultrastructure ; RNA/metabolism ; RNA-Binding Protein FUS/chemistry ; Recombinant Fusion Proteins/metabolism ; Sequence Analysis, DNA ; Spinal Cord/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-14 z 14

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