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Wyszukujesz frazę ""Baas, F."" wg kryterium: Autor


Tytuł :
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Autorzy :
Tao F; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Beecham GW; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Rebelo AP; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Svaren J; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Blanton SH; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Moran JJ; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Lopez-Anido C; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Morrow JM; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
Abreu L; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Rizzo D; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
Kirk CA; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
Wu X; Department of Neurology, University of Iowa, Iowa City, IA.
Feely S; Department of Neurology, University of Iowa, Iowa City, IA.
Verhamme C; Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands.
Saporta MA; Department of Neurology, University of Miami, Miami, FL.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY.
Day JW; Department of Neurology, Stanford University, Palo Alto, CA.
Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
Li J; Department of Neurology, Wayne State University School of Medicine, Detroit, MI.
Yum SW; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Taroni F; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Pareyson D; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Reilly MM; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
Shy ME; Department of Neurology, University of Iowa, Iowa City, IA.
Züchner S; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
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Corporate Authors :
Inherited Neuropathy Consortium
Źródło :
Annals of neurology [Ann Neurol] 2019 Mar; Vol. 85 (3), pp. 316-330.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Foot/*physiopathology
GTPase-Activating Proteins/*genetics
Genes, Modifier/*genetics
Muscle Weakness/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Cell Line, Tumor ; Charcot-Marie-Tooth Disease/physiopathology ; Child ; Child, Preschool ; Female ; Gene Expression Regulation ; Gene Knockdown Techniques ; Gene Regulatory Networks ; Humans ; In Vitro Techniques ; Male ; Middle Aged ; Muscle Weakness/physiopathology ; Myelin Proteins/genetics ; Neurilemmoma/genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Rats ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
Complement C3 on microglial clusters in multiple sclerosis occur in chronic but not acute disease: Implication for disease pathogenesis.
Autorzy :
Michailidou I; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, Amsterdam, 1105, The Netherlands.
Naessens DM; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, Amsterdam, 1105, The Netherlands.
Hametner S; Department of Neuroimmunology, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, Vienna, 1090, Austria.
Guldenaar W; Department of Anatomy and Neurosciences, VU University Medical Center, De Boelelaan 1118, Amsterdam, 1081, The Netherlands.
Kooi EJ; Department of Anatomy and Neurosciences, VU University Medical Center, De Boelelaan 1118, Amsterdam, 1081, The Netherlands.
Geurts JJ; Department of Anatomy and Neurosciences, VU University Medical Center, De Boelelaan 1118, Amsterdam, 1081, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, Amsterdam, 1105, The Netherlands.
Lassmann H; Department of Neuroimmunology, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, Vienna, 1090, Austria.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, Amsterdam, 1105, The Netherlands.
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Źródło :
Glia [Glia] 2017 Feb; Vol. 65 (2), pp. 264-277. Date of Electronic Publication: 2016 Oct 25.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8806785 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1136 (Electronic) Linking ISSN: 08941491 NLM ISO Abbreviation: Glia Subsets: MEDLINE
MeSH Terms :
Complement C3/*metabolism
Microglia/*metabolism
Multiple Sclerosis/*pathology
Acute Disease ; Adult ; Aged ; Aged, 80 and over ; Animals ; Autopsy ; Calcium-Binding Proteins ; Chronic Disease ; Complement C3/genetics ; Cytokines/metabolism ; DNA-Binding Proteins/metabolism ; Disease Models, Animal ; Female ; Head Injuries, Closed/pathology ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Microfilament Proteins ; Middle Aged ; Myelin Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Neurons/pathology ; Stroke/pathology
Czasopismo naukowe
Tytuł :
Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.
Autorzy :
Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Kenter S; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Nannenberg EA; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Bleeker FE; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
van Minkelen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
van den Ouweland AM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Wesseling P; Department of Pathology, Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
Flucke U; Department of Pathology, Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2016 Apr; Vol. 55 (4), pp. 350-4. Date of Electronic Publication: 2016 Jan 22.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE
MeSH Terms :
Chromosomal Proteins, Non-Histone/*genetics
DNA-Binding Proteins/*genetics
Kidney Neoplasms/*genetics
Neurilemmoma/*genetics
Transcription Factors/*genetics
Carcinoma, Renal Cell/genetics ; Chromosomes, Human, Pair 22 ; Gene Expression Profiling ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; SMARCB1 Protein
Czasopismo naukowe
Tytuł :
Complement C1q-C3-associated synaptic changes in multiple sclerosis hippocampus.
Autorzy :
Michailidou I; Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands.
Willems JG; Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands.; Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.
Kooi EJ; Department of Anatomy and Neurosciences, VU University Medical Center, Amsterdam, the Netherlands.
van Eden C; Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.
Gold SM; Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Psychiatry, Charité, Berlin, Germany.
Geurts JJ; Department of Anatomy and Neurosciences, VU University Medical Center, Amsterdam, the Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands.
Huitinga I; Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands.; Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.
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Źródło :
Annals of neurology [Ann Neurol] 2015 Jun; Vol. 77 (6), pp. 1007-26. Date of Electronic Publication: 2015 May 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: MEDLINE
MeSH Terms :
Tissue Banks*
Complement C1q/*metabolism
Complement C3/*metabolism
Hippocampus/*pathology
Multiple Sclerosis/*pathology
Synapses/*pathology
Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Cell Count ; Female ; Hippocampus/metabolism ; Humans ; Male ; Middle Aged ; Multiple Sclerosis/metabolism ; RNA, Messenger/metabolism ; Synapses/metabolism
Czasopismo naukowe
Tytuł :
RELN rare variants in myoclonus-dystonia.
Autorzy :
Groen JL; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Ritz K
Jalalzadeh H
van der Salm SM
Jongejan A
Mook OR
Haagmans MA
Zwinderman AH
Motazacker MM
Hennekam RC
Baas F
Tijssen MA
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2015 Mar; Vol. 30 (3), pp. 415-9. Date of Electronic Publication: 2015 Feb 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Family Health*
Cell Adhesion Molecules, Neuronal/*genetics
Dystonic Disorders/*genetics
Extracellular Matrix Proteins/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Serine Endopeptidases/*genetics
Adolescent ; Adult ; Aged ; Cohort Studies ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Young Adult
SCR Disease Name :
Myoclonic dystonia
Czasopismo naukowe
Tytuł :
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
Autorzy :
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Schmidt A
Schillert A
Winkler S
Albanese A
Baas F
Bentivoglio AR
Borngräber F
Brüggemann N
Defazio G
Del Sorbo F
Deuschl G
Edwards MJ
Gasser T
Gómez-Garre P
Graf J
Groen JL
Grünewald A
Hagenah J
Hemmelmann C
Jabusch HC
Kaji R
Kasten M
Kawakami H
Kostic VS
Liguori M
Mir P
Münchau A
Ricchiuti F
Schreiber S
Siegesmund K
Svetel M
Tijssen MA
Valente EM
Westenberger A
Zeuner KE
Zittel S
Altenmüller E
Ziegler A
Klein C
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2014 Jun; Vol. 29 (7), pp. 921-7. Date of Electronic Publication: 2013 Dec 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Arylsulfatases/*genetics
Dystonic Disorders/*genetics
Psychomotor Performance/*physiology
Genetic Loci ; Genetic Testing/methods ; Humans ; Risk ; Risk Factors
SCR Disease Name :
Dystonia, Focal, Task-Specific
Czasopismo naukowe
Tytuł :
Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Autorzy :
Groen JL; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Ritz K
Tanck MW
van de Warrenburg BP
van Hilten JJ
Aramideh M
Baas F
Tijssen MA
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2013 Jun; Vol. 28 (6), pp. 827-31. Date of Electronic Publication: 2013 Mar 04.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Dystonia Musculorum Deformans/*genetics
Molecular Chaperones/*genetics
Polymorphism, Single Nucleotide/*genetics
Adult ; Aged ; Cohort Studies ; Female ; Gene Frequency ; Genetic Association Studies ; Haplotypes ; Humans ; Male ; Middle Aged
SCR Disease Name :
Dystonia musculorum deformans type 1
Czasopismo naukowe

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