نتائج البحث - "Pepers BA"

المؤلفون: Bouwman LF; Department of Human Genetics, LUMC, Leiden, the Netherlands. Electronic address: l.f.bouwman@lumc.nl., Joosen MEM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Buijsen RAM; Department of Human Genetics, LUMC, Leiden, the Netherlands., van der Graaf LM; Department of Human Genetics, LUMC, Leiden, the Netherlands., Pepers BA; Department of Human Genetics, LUMC, Leiden, the Netherlands., Voesenek BJB; Department of Human Genetics, LUMC, Leiden, the Netherlands., Brosens E; Erasmus MC Sophia Children's Hospital, Department of Clinical Genetics, Rotterdam, the Netherlands., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Roon-Mom WMC; Department of Human Genetics, LUMC, Leiden, the Netherlands.

المصدر: Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103462. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Spinocerebellar Ataxias*/pathology , Spinocerebellar Ataxias*/genetics, Humans ; Cell Line ; Male ; Cell Differentiation ; Female ; Adult

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دورية أكاديمية

Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.

المؤلفون: Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Hu M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Sáez-González M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Notopoulou S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., Mina E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Koning W; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Gardiner SL; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van der Graaf LM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Daoutsali E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Mei H; Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van Dis V; Department of Pathology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Pathology, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands., Frimat JP; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Petrakis S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Aug; Vol. 38 (8), pp. 1428-1442. Date of Electronic Publication: 2023 Jun 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Spinocerebellar Ataxias*/metabolism, Mice ; Animals ; Ataxins/metabolism ; Protein Aggregates ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Nuclear Proteins/genetics ; Mice, Transgenic ; Purkinje Cells/metabolism ; Purkinje Cells/pathology ; Fibroblasts/metabolism

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دورية أكاديمية

Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients.

المؤلفون: Daoutsali E; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Stamatakis S; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van der Graaf LM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Terwindt GM; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands., Parfitt DA; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.

المصدر: Frontiers in aging neuroscience [Front Aging Neurosci] 2023 Jan 17; Vol. 14, pp. 1048584. Date of Electronic Publication: 2023 Jan 17 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101525824 Publication Model: eCollection Cited Medium: Print ISSN: 1663-4365 (Print) Linking ISSN: 16634365 NLM ISO Abbreviation: Front Aging Neurosci Subsets: PubMed not MEDLINE

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دورية أكاديمية

Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy.

المؤلفون: Daoutsali E; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hailu TT; Amylon Therapeutics, Leiden, the Netherlands., Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., van der Graaf LM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Verbeek MM; Departments of Neurology and Laboratory Medicine, Radboud Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands., Curtis D; Amylon Therapeutics, Leiden, the Netherlands.; Atalanta Therapeutics, Boston, Massachusetts, USA., de Vlaam T; Amylon Therapeutics, Leiden, the Netherlands., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

المصدر: Nucleic acid therapeutics [Nucleic Acid Ther] 2021 Oct; Vol. 31 (5), pp. 351-363. Date of Electronic Publication: 2021 May 31.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101562758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2159-3345 (Electronic) Linking ISSN: 21593337 NLM ISO Abbreviation: Nucleic Acid Ther Subsets: MEDLINE

مواضيع طبية MeSH: Amyloid beta-Protein Precursor*/genetics , Amyloid beta-Protein Precursor*/metabolism , Cerebral Amyloid Angiopathy*/genetics , Cerebral Amyloid Angiopathy*/therapy, Amyloid beta-Peptides/genetics ; Animals ; Brain/metabolism ; Humans ; Mice ; Oligonucleotides, Antisense/genetics

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دورية أكاديمية

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.

المؤلفون: Fulgencio-Covián A; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Álvarez M; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain., Pepers BA; Department of Human Genetics, LUMC, Leiden, the Netherlands., López-Márquez A; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., Pérez B; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain., van Roon-Mom WMC; Department of Human Genetics, LUMC, Leiden, the Netherlands., Desviat LR; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address: lruiz@cbm.csic.es., Richard E; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address: erichard@cbm.csic.es.

المصدر: Stem cell research [Stem Cell Res] 2020 Dec; Vol. 49, pp. 102055. Date of Electronic Publication: 2020 Oct 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Propionic Acidemia*/genetics, CRISPR-Cas Systems/genetics ; Humans ; Methylmalonyl-CoA Decarboxylase/genetics ; Mutation/genetics ; Technology

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