يعرض 1 - 10 نتائج من 40 نتيجة بحث عن '"Retinitis Pigmentosa: genetics"', وقت الاستعلام: 1.19s تنقيح النتائج
  1. 1
    De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

    المؤلفون: Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg

    المصدر: Brain, 145, 1, pp. 208-223
    Brain
    Brain, 145(1), 208-223. Oxford University Press
    Brain, vol. 145, no. 1, pp. 208-223
    Brain, 145, 208-223

    مصطلحات موضوعية: Myoclonus, Ataxia, Retinitis, Progressive myoclonus epilepsy, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder, DHDDS, Biology, Settore MED/04, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, Neurodevelopmental disorder, Dolichol, Dolichols, Retinitis pigmentosa, medicine, Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, PROTEIN GLYCOSYLATION, MUTATION, NOGO-B RECEPTOR, CIS-PRENYLTRANSFERASE, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurodegenerative Diseases, LOCALIZATION, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], OLIGOSACCHARIDES, INSIGHTS, chemistry, Neuronal ceroid lipofuscinosis, Original Article, Neurology (clinical), medicine.symptom, LIQUID-CHROMATOGRAPHY, Retinitis Pigmentosa, GENETIC-DEFECTS

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
    https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d

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  2. 2
    رسالة جامعية
    Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

    المؤلفون: Frida, Jonsson

    المساهمون: Umeå universitet. Institutionen för medicinsk biovetenskap, Umeå universitet. Institutionen för klinisk vetenskap

    مصطلحات موضوعية: Cornea, Retina, Gene, Mutation detection, Inherited diseases, Carbonic anhydrase IV -- genetics, Carrier proteins -- genetics, Genes, recessive, Heterozygote, Mutation -- genetics, Retinitis pigmentosa -- genetics, ATP-binding cassette transporters -- genetics, Eye proteins -- genetics, Genetic predisposition to disease, Leber congenital amaurosis -- genetics, Macular degeneration -- congenital, Membrane proteins -- genetics, Nerve tissue proteins -- genetics, Autoantigens -- genetics, Corneal dystrophies, hereditary -- diagnosis, Corneal dystrophies, hereditary -- genetics, Epithelium, corneal -- pathology, Genetic association studies, Non-fibrillar collagens -- genetics

    URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-130538

    Degree: Diss. (sammanfattning) Umeå : Umeå universitet, 2017

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  3. 3
    رسالة جامعية
    Selective wavelength pupillometry to evaluate outer and inner retinal photoreception

    المؤلفون: Kawasaki, Aki

    مصطلحات موضوعية: Light, Pupil -- radiation effects, Pupil -- physiology, Reflex, pupillary -- radiation effects, Reflex, pupillary -- physiology, Retinal photoreceptor cell outer segment -- metabolism, Retinal photoreceptor cell outer segment -- radiation effects, Diagnostic techniques, ophthalmological -- instrumentation, Photoreceptor cells, vertebrate -- physiology, Retinitis pigmentosa -- genetics, Retinitis pigmentosa -- physiopathology, Pupil light reflex, Melanopsin, Photoreceptor, Intrinsically photosensitive retinal ganglion cell

    URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-79628

    Degree: Diss. (sammanfattning) Umeå : Umeå universitet, 2013

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  4. 4
    Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength

    المؤلفون: John C. Marioni, Jernej Ule, Arthur R. Bartolozzi, David Perera, Mar Gonzàlez-Porta, Vihandha O. Wickramasinghe, Martina Hallegger, Ashok R. Venkitaraman, Christopher R. Sibley

    المساهمون: Marioni, John [0000-0001-9092-0852], Apollo - University of Cambridge Repository

    المصدر: Genome Biology
    Wickramasinghe, V O, Gonzàlez-Porta, M, Perera, D, Bartolozzi, A R, Sibley, C R, Hallegger, M, Ule, J, Marioni, J C & Venkitaraman, A R 2015, ' Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength ', Genome Biology, vol. 16, pp. 201 . https://doi.org/10.1186/s13059-015-0749-3

    مصطلحات موضوعية: RNA, Messenger/genetics, Spliceosome, Bioinformatics, Alternative Splicing/genetics, Retinitis Pigmentosa/genetics, 05 Environmental Sciences, RNA-binding protein, Biology, Introns/genetics, Exon, Minor spliceosome, Exons/genetics, Humans, RNA, Messenger, Spliceosomes/genetics, Ribonucleoproteins/genetics, Genetics, 08 Information And Computing Sciences, Genome, Research, Alternative splicing, Intron, RNA-Binding Proteins, Exons, Transcriptome/genetics, 06 Biological Sciences, RNA-Binding Proteins/genetics, Introns, Cell biology, Alternative Splicing, Polypyrimidine tract, Ribonucleoproteins, RNA splicing, Mutation, Spliceosomes, RNA Splice Sites, Transcriptome, Retinitis Pigmentosa

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94962150233bc59d5c164cb80669e670

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  5. 5
    Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms: New insights in homozygous GRN mutations

    المؤلفون: Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

    المساهمون: HUIN, Vincent, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospital (HUG), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Medical Office [Geneva, Switzerland], Service de pathologie [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neuropathologie [CHU Pitié Salpêtrière], Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A)

    المصدر: Brain-A Journal of Neurology
    Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

    مصطلحات موضوعية: MESH: Epilepsy / genetics, TDP-43, MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging, MESH: TDP-43 Proteinopathies / physiopathology, MESH: RNA Splicing / genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Child, MESH: Cerebellar Ataxia / genetics, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Cerebellar ataxia, MESH: Heterozygote, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Middle Aged, Neuronal ceroid lipofuscinosis, MESH: Neuronal Ceroid-Lipofuscinoses / physiopathology, MESH: Parkinsonian Disorders / genetics, frontotemporal lobar degeneration, MESH: Cognitive Dysfunction / genetics, MESH: Young Adult, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Parkinsonian Disorders / diagnostic imaging, MESH: TDP-43 Proteinopathies / genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Neuronal Ceroid-Lipofuscinoses / genetics, GRN, Frontotemporal dementia, MESH: Homozygote, MESH: Progranulins / metabolism, MESH: Rare Diseases, Progranulin, MESH: Mutation, MESH: Frontotemporal Dementia / genetics, MESH: Age of Onset, MESH: Parkinsonian Disorders / physiopathology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Frontotemporal Dementia / diagnostic imaging, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Retinitis Pigmentosa / genetics, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Adolescent, MESH: Humans, MESH: Progranulins / genetics, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: TDP-43 Proteinopathies / diagnostic imaging, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Frontotemporal Dementia / physiopathology, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1398::6ccf31a88f1bb53f37d07fa49a3a3ccc
    https://www.hal.inserm.fr/inserm-03014481v2/document

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  6. 6
    رسالة جامعية
    Genetic mapping of retinal degenerations in Northern Sweden

    المؤلفون: Köhn, Linda

    مصطلحات موضوعية: Carbonic anhydrase IV -- genetics, Carrier proteins -- genetics, Genes, recessive, Heterozygote, Mutation, Retinitis pigmentosa -- genetics, Calcium-binding proteins -- genetics, Membrane proteins -- genetics, Retinal degeneration -- genetics, Chromosome deletion, Chromosomes, human, pair 19 -- genetics, Penetrance, Bothnia dystrophy, Cone dystrophy, Linkage analysis, PITPNM3, PRPF31, RLBP1

    URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-27004

    Degree: Diss. (sammanfattning) Umeå : Umeå universitet, 2009

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  7. 7
    Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms: New insights in homozygous GRN mutations

    المؤلفون: Antoinette Gelot, Alexis Brice, Agnès Camuzat, Benoit Rucheton, Laureen Chat, Dario Saracino, Frédérique Fluchère, Johannes Alexander Lobrinus, Fabienne Clot, Sylvie Forlani, Peter Myers, Alexandra Durr, Ludmila Jornea, Isabelle Le Ber, Vincent Huin, Foudil Lamari, Mathieu Barbier, Armand Bottani, Catherine Caillaud, Stéphane Auvin, Charles Duyckaerts

    المساهمون: UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Technocentre Renault [Guyancourt], RENAULT, Génétique médicale, Hôpitaux Universitaires de Genève (HUG), University of Geneva [Switzerland], Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Université de Bordeaux (UB), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Polytech'Paris-UPMC, Université Pierre et Marie Curie - Paris 6 (UPMC), Laboratoire de Neuropathologie Raymond Escourolle, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospital (HUG), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Medical Office [Geneva, Switzerland], Service de pathologie [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neuropathologie [CHU Pitié Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié - Salpêtrière, Paris, France, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]

    المصدر: Brain, Vol. 143, No 1 (2020) pp. 303-319
    Brain-A Journal of Neurology
    Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
    Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

    مصطلحات موضوعية: Male, MESH: Epilepsy / genetics, MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging, MESH: TDP-43 Proteinopathies / physiopathology, MESH: RNA Splicing / genetics, ddc:616.07, 0302 clinical medicine, MESH: Child, MESH: Cerebellar Ataxia / genetics, ddc:576.5, Age of Onset, Child, ComputingMilieux_MISCELLANEOUS, Mutation, MESH: Middle Aged, 3. Good health, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Neuronal ceroid lipofuscinosis, MESH: Parkinsonian Disorders / genetics, MESH: Cognitive Dysfunction / genetics, MESH: Young Adult, Frontotemporal Dementia, GRN, Retinitis Pigmentosa, MESH: Progranulins / metabolism, MESH: Rare Diseases, MESH: Frontotemporal Dementia / genetics, Cerebellar Ataxia, MESH: Age of Onset, RNA Splicing, 03 medical and health sciences, Parkinsonian Disorders, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Retinitis pigmentosa, Humans, Cognitive Dysfunction, MESH: Adolescent, MESH: Humans, Epilepsy, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: TDP-43 Proteinopathies / diagnostic imaging, 030104 developmental biology, FOS: Biological sciences, Neurology (clinical), MESH: Frontotemporal Dementia / physiopathology, MESH: Female, 030217 neurology & neurosurgery, 0301 basic medicine, TDP-43, medicine.disease_cause, Progranulins, MESH: Heterozygote, Genetics, Homozygote, Frontotemporal lobar degeneration, Middle Aged, MESH: Neuronal Ceroid-Lipofuscinoses / physiopathology, frontotemporal lobar degeneration, Neurons and Cognition (q-bio.NC), MESH: Parkinsonian Disorders / diagnostic imaging, MESH: TDP-43 Proteinopathies / genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, medicine.symptom, MESH: Neuronal Ceroid-Lipofuscinoses / genetics, Frontotemporal dementia, MESH: Homozygote, Adult, Progranulin, Heterozygote, MESH: Mutation, Adolescent, MESH: Parkinsonian Disorders / physiopathology, Biology, MESH: Frontotemporal Dementia / diagnostic imaging, Young Adult, Rare Diseases, Neuronal Ceroid-Lipofuscinoses, MESH: Retinitis Pigmentosa / genetics, medicine, Dementia, Quantitative Biology - Genomics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Genomics (q-bio.GN), Cerebellar ataxia, MESH: Progranulins / genetics, Biomolecules (q-bio.BM), MESH: Male, Quantitative Biology - Biomolecules, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Quantitative Biology - Neurons and Cognition, TDP-43 Proteinopathies, Age of onset, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2606313088e1f00ce84d434e32646b88
    https://pubmed.ncbi.nlm.nih.gov/33844830

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  8. 8
    Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

    المؤلفون: Fanny Depasse, Elfride De Baere, Bart P. Leroy, Charlotte Claes, Ingele Casteels, Erik Fransén, Caroline Van Cauwenbergh, Dimitri Roels, Thomy de Ravel, Frauke Coppieters, Julie De Zaeytijd, Sarah De Jaegere, Sophie Walraedt, Guy Van Camp, Helena Flipts

    المساهمون: Clinical sciences, Medical Genetics

    المصدر: PLoS ONE, Vol 12, Iss 1, p e0170038 (2017)
    PLoS ONE
    PloS one, 12 (1
    PLOS ONE

    مصطلحات موضوعية: MISSENSE MUTATIONS, Pigments, Male, 0301 basic medicine, PRPF31, family, Molecular biology, DNA Mutational Analysis, Psychologie appliquée, Gene Identification and Analysis, PROTEIN, lcsh:Medicine, Pathology and Laboratory Medicine, medicine.disease_cause, Sequencing techniques, 0302 clinical medicine, Belgium, Gene Frequency, Medicine and Health Sciences, Missense mutation, DNA sequencing, Mutation frequency, Frameshift Mutation, lcsh:Science, Exome sequencing, Genes, Dominant, Genetics, Mutation, Multidisciplinary, Nonsense Mutation, Genomics, Sciences bio-médicales et agricoles, Middle Aged, RP1, Physical Sciences, Cohort studies, ROD-CONE DYSTROPHY, Female, RNA Splicing Factors, Biologie, Transcriptome Analysis, Engineering sciences. Technology, Retinitis Pigmentosa, Research Article, Next-Generation Sequencing, Adult, TRI-SNRNP, Retinitis Pigmentosa/genetics, Materials Science, Nonsense mutation, RHODOPSIN GENE, Eye Proteins/genetics, Biology, Frameshift mutation, MACULAR DYSTROPHY, 03 medical and health sciences, Signs and Symptoms, Diagnostic Medicine, medicine, Humans, Genetic Predisposition to Disease, Eye Proteins, RNA Splicing Factors/genetics, Mutation Detection, Alleles, Materials by Attribute, Aged, Genetic heterogeneity, CLINICAL-FEATURES, lcsh:R, Biology and Life Sciences, Computational Biology, Genome Analysis, PROM1 MUTATION, eye diseases, Research and analysis methods, Molecular biology techniques, 030104 developmental biology, Genetic Loci, 030221 ophthalmology & optometry, lcsh:Q, Atrophy, mutation, RNA HELICASE

    وصف الملف: pdf; 1 full-text file(s): application/pdf; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3483f5dc85d6ddc874768826cb0ba5bc
    http://europepmc.org/articles/PMC5226823?pdf=render

    Find this article in full text from ProQuest
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  9. 9
    Animal modelling for inherited central vision loss

    المؤلفون: Kostic, C., Arsenijevic, Y.

    المصدر: Journal of Pathology, vol. 238, no. 2, pp. 300-310

    مصطلحات موضوعية: genetic structures, Animals, Animals, Genetically Modified, Blindness/genetics, Blindness/therapy, Disease Models, Animal, Dogs, Genetic Therapy, Humans, Mutation/genetics, Retinal Cone Photoreceptor Cells/physiology, Retinal Degeneration/genetics, Retinal Degeneration/therapy, Retinitis Pigmentosa/genetics, Retinitis Pigmentosa/therapy, Rodentia, Saimiri, Sheep, Swine

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::d070d268dbc57a3afb050c601c654420
    https://serval.unil.ch/notice/serval:BIB_55559404111F

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  10. 10
    Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

    المؤلفون: Hugosson, Therése, Friedman, James S, Ponjavic, Vesna, Abrahamson, Magnus, Swaroop, Anand, Andréasson, Sten

    المصدر: Archives of Ophthalmology. 128(6):772-778

    مصطلحات موضوعية: Autoantigens: genetics, Retinitis Pigmentosa: genetics, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

    URL الوصول: https://lup.lub.lu.se/record/1626074
    http://www.ncbi.nlm.nih.gov/pubmed/20547956?dopt=Abstract
    http://dx.doi.org/10.1001/archophthalmol.2010.98

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