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Tytuł:
Resting-state fMRI functional connectome of C9orf72 mutation status.
Autorzy:
Stanziano M; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Fedeli D; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Manera U; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Ferraro S; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.; MOE Key Laboratory for Neuroinformation, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China.
Medina Carrion JP; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Palermo S; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Sciortino P; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
Cogoni M; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
Agosta F; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.
Basaia S; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Filippi M; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Grisoli M; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Valentini MC; Neuroradiology Unit, CTO Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
De Mattei F; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Calvo A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Bruzzone MG; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Chiò A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy.
Nigri A; Neuroradiology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Moglia C; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 686-697. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/diagnostic imaging
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
Connectome*
Humans ; Magnetic Resonance Imaging ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Proteins/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.
Autorzy:
Figueiredo AS; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal.
Loureiro JR; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
Macedo-Ribeiro S; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
Silveira I; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
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Źródło:
Cells [Cells] 2023 Mar 07; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 07.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Repeat Expansion*/genetics
Neuromuscular Diseases*/genetics
Humans ; Mutation ; Proteins/genetics ; RNA/genetics ; Nucleotides
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Autorzy:
Bennett CL; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.
Dastidar S; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.; Center for Molecular Neurosciences, Kasturba Medical College, Manipal, 576104, India.
Arnold FJ; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.
McKinstry SU; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.
Stockford C; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.
Freibaum BD; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Sopher BL; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA, 98195, USA.
Wu M; Department of Pharmacology, University of California, San Diego, La Jolla, CA, 92093, USA.
Seidner G; Department of Pharmacology, University of California, San Diego, La Jolla, CA, 92093, USA.
Joiner W; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA, 98195, USA.
Taylor JP; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, 20815, USA.
West RJH; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK. .; Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK. .
La Spada AR; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. .; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA. .; Department of Neurobiology and Behavior, University of California Irvine School of Biosciences, Irvine, CA, 92697, USA. .; UCI Center for Neurotherapeutics, University of California Irvine, Irvine, CA, 92697, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Oct 17; Vol. 11 (1), pp. 164. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/metabolism
Frontotemporal Dementia*/genetics
Humans ; Animals ; Dipeptides/genetics ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; Arginine/genetics ; Arginine/metabolism ; HEK293 Cells ; Motor Neurons/metabolism ; Drosophila/metabolism ; RNA/metabolism ; DNA Repeat Expansion/genetics ; DNA Helicases/genetics ; RNA Helicases/genetics ; Multifunctional Enzymes/genetics
SCR Disease Name:
Amyotrophic lateral sclerosis 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Advances in the Structure of GGGGCC Repeat RNA Sequence and Its Interaction with Small Molecules and Protein Partners.
Autorzy:
Liu X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Zhao X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
He J; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Wang S; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Shen X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Liu Q; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Wang S; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.; Beijing NMR Center, Peking University, Beijing 100087, China.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2023 Aug 01; Vol. 28 (15). Date of Electronic Publication: 2023 Aug 01.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Amyotrophic Lateral Sclerosis*/metabolism
Frontotemporal Dementia*/genetics
Humans ; Base Sequence ; DNA Repeat Expansion ; RNA/genetics ; RNA/chemistry ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The effects of molecular crowding and CpG hypermethylation on DNA G-quadruplexes formed by the C9orf72 nucleotide repeat expansion.
Autorzy:
Ozcan KA; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.
Ghaffari LT; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.
Haeusler AR; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA. .; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, 900 Walnut Street, JHN suite 410, Philadelphia, PA, 19107, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Dec 01; Vol. 11 (1), pp. 23213. Date of Electronic Publication: 2021 Dec 01.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
DNA Repeat Expansion*
G-Quadruplexes*
C9orf72 Protein/*genetics
Amyotrophic Lateral Sclerosis/genetics ; Frontotemporal Dementia/genetics ; Humans ; Molecular Dynamics Simulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.
Autorzy:
Lualdi M; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Shafique A; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Pedrini E; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Pieroni L; Proteomics and Metabolomic Laboratory, Experimental Neuroscience Department, S. Lucia Foundation IRCCS, I-00168 Rome, Italy.
Greco V; Department of Basic Biotechnological Sciences, Intensivological and Perioperative Clinics, Università Cattolica del Sacro Cuore, I-00168 Rome, Italy.; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, I-00168 Rome, Italy.
Castagnola M; Proteomics and Metabolomic Laboratory, Experimental Neuroscience Department, S. Lucia Foundation IRCCS, I-00168 Rome, Italy.
Cucina G; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Corrado L; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Di Pierro A; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
De Marchi F; Department of Translational Medicine, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.; Department of Neurology and ALS Centre, 'Maggiore della Carità' Hospital, I-28100 Novara, Italy.
Camillo L; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Colombrita C; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, I-20149 Milan, Italy.
D'Anca M; Neurodegenerative Disease Unit, Fondazione Ca' Granda IRCCS, Policlinico Hospital, I-20122 Milan, Italy.
Alberio T; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Fasano M; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 27; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 27.
Typ publikacji:
Clinical Trial; Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/metabolism
Amyotrophic Lateral Sclerosis*/pathology
C9orf72 Protein*/genetics
C9orf72 Protein*/metabolism
DNA Repeat Expansion*
Fibroblasts*/metabolism
Fibroblasts*/pathology
Proteome*/genetics
Proteome*/metabolism
Skin*/metabolism
Skin*/pathology
Signal Transduction/*genetics
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
Autorzy:
Rajan-Babu IS; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada. .; Department of Medical and Molecular Genetics, King's College London, Strand, London, WC2R 2LS, UK. .
Peng JJ; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
Chiu R; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.
Li C; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.; Bioinformatics Graduate Program, University of British Columbia, Vancouver, BC, V6T1Z4, Canada.
Mohajeri A; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
Dolzhenko E; Illumina Inc., San Diego, CA, 92121, USA.
Eberle MA; Illumina Inc., San Diego, CA, 92121, USA.
Birol I; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.
Friedman JM; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
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Corporate Authors:
IMAGINE Study
CAUSES Study
Źródło:
Genome medicine [Genome Med] 2021 Aug 09; Vol. 13 (1), pp. 126. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Repeat Expansion*
Genome-Wide Association Study*/methods
High-Throughput Nucleotide Sequencing*
Microsatellite Repeats*
Whole Genome Sequencing*
Algorithms ; Alleles ; Clinical Decision-Making ; Computational Biology/methods ; Databases, Genetic ; Decision Trees ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Loci ; Humans ; Machine Learning ; Molecular Diagnostic Techniques ; Mutation ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Extreme Enlargement of the Inverted Repeat Region in the Plastid Genomes of Diatoms from the Genus Climaconeis .
Autorzy:
Gastineau R; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.
Davidovich NA; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.; Karadag Scientific Station-Natural Reserve of the Russian Academy of Sciences, p/o Kurortnoe, Feodosiya, 98188 Crimea, Russia.
Davidovich OI; Karadag Scientific Station-Natural Reserve of the Russian Academy of Sciences, p/o Kurortnoe, Feodosiya, 98188 Crimea, Russia.
Lemieux C; Département de Biochimie, de Microbiologie et de Bio-Informatique, Institut de Biologie Intégrative et des Systèmes, Université Laval, Québec, QC G1V 0A6, Canada.
Turmel M; Département de Biochimie, de Microbiologie et de Bio-Informatique, Institut de Biologie Intégrative et des Systèmes, Université Laval, Québec, QC G1V 0A6, Canada.
Wróbel RJ; Engineering of Catalytic and Sorbent Materials Department, Faculty of Chemical Technology and Engineering, West Pomeranian University of Technology Szczecin, Pułaskiego 10, 70-322 Szczecin, Poland.
Witkowski A; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 02; Vol. 22 (13). Date of Electronic Publication: 2021 Jul 02.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Repeat Expansion*
Genome, Plastid*
Inverted Repeat Sequences*
Diatoms/*genetics
Diatoms/ultrastructure
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Supramolecular Polymorphism of (G 4 C 2 ) n Repeats Associated with ALS and FTD.
Autorzy:
Potrč M; Faculty of Natural Sciences and Mathematics, University of Maribor, Koroška 160, 2000 Maribor, Slovenia.; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Sebastián N; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Škarabot M; Department of Condensed Matter Physics, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Drevenšek-Olenik I; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.; Faculty of Mathematics and Physics, University of Ljubljana, Jadranska 19, 1000 Ljubljana, Slovenia.
Spindler L; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.; Faculty of Mechanical Engineering, University of Maribor, Smetanova 17, 2000 Maribor, Slovenia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 26; Vol. 22 (9). Date of Electronic Publication: 2021 Apr 26.
Typ publikacji:
Journal Article
MeSH Terms:
G-Quadruplexes*
DNA/*chemistry
DNA Repeat Expansion/*genetics
Amyotrophic Lateral Sclerosis/genetics ; Circular Dichroism ; Cytosine ; DNA/genetics ; DNA Repeat Expansion/physiology ; Frontotemporal Dementia/genetics ; Guanine ; Humans ; Magnetic Resonance Spectroscopy ; Models, Molecular ; Nucleic Acid Conformation ; Polymorphism, Genetic/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.
Autorzy:
Wallace AD; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Sasani TA; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Swanier J; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Gates BL; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Greenland J; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Pedersen BS; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Varley KE; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Quinlan AR; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
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Źródło:
PloS one [PLoS One] 2021 Apr 08; Vol. 16 (4), pp. e0241253. Date of Electronic Publication: 2021 Apr 08 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
CRISPR-Cas Systems*
DNA Repeat Expansion*
Genome, Human*
High-Throughput Nucleotide Sequencing*
Microsatellite Repeats*
Nanopores*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
Autorzy:
La Rosa P; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Petrillo S; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Bertini ES; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Piemonte F; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
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Źródło:
Biomolecules [Biomolecules] 2020 May 01; Vol. 10 (5). Date of Electronic Publication: 2020 May 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
DNA Repeat Expansion*
Oxidative Stress*
NF-E2-Related Factor 2/*metabolism
Neurodegenerative Diseases/*metabolism
Animals ; Humans ; NF-E2-Related Factor 2/genetics ; Neurodegenerative Diseases/genetics ; Signal Transduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD.
Autorzy:
He F; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA. .
Flores BN; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Krans A; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Frazer M; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.; Neuroscience Graduate Program, University of California at Los Angeles, Los Angeles, CA, USA.
Natla S; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Niraula S; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA.
Adefioye O; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA.
Barmada SJ; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Todd PK; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .; Veterans Affairs Medical Center, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Aug 04; Vol. 8 (1), pp. 122. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
DNA Repeat Expansion*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
Frontotemporal Dementia/*genetics
Protein Biosynthesis/*genetics
Reading Frames/*genetics
Animals ; Dipeptides ; Disease Models, Animal ; Drosophila ; Rats ; Rats, Long-Evans
SCR Disease Name:
Frontotemporal Dementia With Motor Neuron Disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
Autorzy:
Liu Z; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.
Guo X; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.; Department of Neurology, The Second Affiliated Hospital of Zunyi Medical University, Intersection of Xinlong Avenue and Xinpu Avenue, Honghuagang District, Zunyi, Guizhou, China.
Guo H; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.
Luo J; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China. .
Xiao F; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Nov; Vol. 43 (11), pp. 6505-6510. Date of Electronic Publication: 2022 Aug 16.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
Neurodegenerative Diseases*/genetics
Humans ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Fibroblasts/metabolism ; Muscles/metabolism ; Muscles/pathology ; Mutation/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel probes for label-free detection of neurodegenerative GGGGCC repeats associated with amyotrophic lateral sclerosis.
Autorzy:
Taki M; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Rohilla KJ; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Barton M; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Funneman M; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Benzabeh N; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Naphade S; The Buck Institute for Research on Aging, 8001 Redwood Blvd, Novato, CA, 94945, USA.
Ellerby LM; The Buck Institute for Research on Aging, 8001 Redwood Blvd, Novato, CA, 94945, USA.
Gagnon KT; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Shamsi MH; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA. .
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Źródło:
Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2019 Oct; Vol. 411 (26), pp. 6995-7003. Date of Electronic Publication: 2019 Aug 21.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Repeat Expansion*
Amyotrophic Lateral Sclerosis/*genetics
Oligonucleotide Probes/*genetics
Base Sequence ; Biosensing Techniques/methods ; Dielectric Spectroscopy/methods ; Humans ; Huntington Disease/genetics ; RNA/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease.
Autorzy:
Kehl A; Laboklin, Bad Kissingen, Germany.
Cizinauskas S; Small Animal Hospital Aisti, Vantaa, Finnland.
Langbein-Detsch I; Laboklin, Bad Kissingen, Germany.
Mueller E; Laboklin, Bad Kissingen, Germany.
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Źródło:
Animal genetics [Anim Genet] 2019 Aug; Vol. 50 (4), pp. 413-414. Date of Electronic Publication: 2019 Jun 06.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
DNA Repeat Expansion*
Carrier Proteins/*genetics
Dog Diseases/*genetics
Lafora Disease/*veterinary
Animals ; Dogs ; Female ; Finland ; Lafora Disease/genetics ; Ubiquitin-Protein Ligases/genetics ; Whole Genome Sequencing/veterinary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Synaptic proteomics reveal distinct molecular signatures of cognitive change and C9ORF72 repeat expansion in the human ALS cortex.
Autorzy:
Laszlo ZI; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.
Hindley N; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.
Sanchez Avila A; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.; The Euan Macdonald Centre, Edinburgh, UK.
Kline RA; The Euan Macdonald Centre, Edinburgh, UK.; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Eaton SL; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Lamont DJ; FingerPrints Proteomics Facility, Discovery Centre, School of Life Sciences, University of Dundee, Dundee, Scotland, UK.
Smith C; The Euan Macdonald Centre, Edinburgh, UK.; Academic Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, Scotland, UK.
Spires-Jones TL; The Euan Macdonald Centre, Edinburgh, UK.; Centre for Discovery Brain Sciences and UK Dementia Research Institute at the University of Edinburgh, Edinburgh, UK.
Wishart TM; The Euan Macdonald Centre, Edinburgh, UK.; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Henstridge CM; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK. .; The Euan Macdonald Centre, Edinburgh, UK. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Oct 29; Vol. 10 (1), pp. 156. Date of Electronic Publication: 2022 Oct 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/pathology
Frontotemporal Dementia*/genetics
Humans ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; DNA Repeat Expansion/genetics ; Proteomics ; Proteome/genetics ; Cognition
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.
Autorzy:
Katisko K; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.
Huber N; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Kokkola T; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.
Hartikainen P; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland.
Krüger J; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.
Heikkinen AL; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.; Finnish Institute of Occupational Health, Work Ability and Working Careers, Helsinki, Finland.
Paananen V; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.
Leinonen V; Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland.; Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland, 70211, Kuopio, Finland.
Korhonen VE; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.; Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland.; Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland, 70211, Kuopio, Finland.
Helisalmi S; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Herukka SK; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland.
Cantoni V; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Gadola Y; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Archetti S; ASST Spedali Civili, Brescia, Italy.
Remes AM; Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, Oulu, Finland.
Haapasalo A; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Borroni B; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili, Brescia, Italy.
Solje E; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland. .; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland. .
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Źródło:
Alzheimer's research & therapy [Alzheimers Res Ther] 2022 Oct 11; Vol. 14 (1), pp. 151. Date of Electronic Publication: 2022 Oct 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
C9orf72 Protein*/genetics
Frontotemporal Dementia*/pathology
Motor Neuron Disease*/genetics
Motor Neuron Disease*/metabolism
Motor Neuron Disease*/pathology
DNA Repeat Expansion ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Humans ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.
Autorzy:
Shao W; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Todd TW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Wu Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jones CY; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Tong J; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jansen-West K; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Daughrity LM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Park J; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Koike Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Kurti A; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Yue M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Castanedes-Casey M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Del Rosso G; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Dunmore JA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Zanetti Alepuz D; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Cook CN; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Fryer JD; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Scottsdale, AZ 85259, USA.
Zhang YJ; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Oct 07; Vol. 378 (6615), pp. 94-99. Date of Electronic Publication: 2022 Oct 06.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/metabolism
C9orf72 Protein*/genetics
C9orf72 Protein*/metabolism
DNA-Binding Proteins*/genetics
DNA-Binding Proteins*/metabolism
Frontotemporal Dementia*/genetics
Frontotemporal Dementia*/metabolism
Protein Serine-Threonine Kinases*/genetics
Protein Serine-Threonine Kinases*/metabolism
Animals ; DNA Repeat Expansion ; Endosomes/metabolism ; Mice ; Mutation
SCR Disease Name:
Frontotemporal Dementia With Motor Neuron Disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Defective axonal transport of endo-lysosomes and dense core vesicles in a Drosophila model of C9-ALS/FTD.
Autorzy:
Sung H; Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Lloyd TE; Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
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Źródło:
Traffic (Copenhagen, Denmark) [Traffic] 2022 Sep; Vol. 23 (9), pp. 430-441. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Frontotemporal Dementia*/metabolism
Animals ; Axonal Transport ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; DNA Repeat Expansion ; Dense Core Vesicles ; Drosophila/metabolism ; Lysosomes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy.
Autorzy:
King A; Department Of Clinical Neuropathology, King's College Hospital, Denmark Hill, London, UK.; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Lee YK; Department of Neurology, Eastbourne District General Hospital, King's Drive, East Sussex, UK.
Jones S; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Troakes C; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
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Źródło:
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2022 Aug; Vol. 42 (4), pp. 302-308. Date of Electronic Publication: 2022 Jun 23.
Typ publikacji:
Case Reports
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
Multiple System Atrophy*/genetics
Parkinsonian Disorders*/genetics
C9orf72 Protein/genetics ; DNA Repeat Expansion ; Humans ; Male ; Mutation
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro.
Autorzy:
Alvarenga MP; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil. alvarenga_.
Siciliani LC; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Carvalho RS; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Ganimi MC; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Penna PS; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Aug; Vol. 43 (8), pp. 4997-5005. Date of Electronic Publication: 2022 Apr 25.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Peripheral Nervous System Diseases*
Spinocerebellar Ataxias*/complications
Spinocerebellar Ataxias*/diagnostic imaging
Spinocerebellar Ataxias*/epidemiology
Atrophy ; Brazil/epidemiology ; DNA Repeat Expansion ; Humans
SCR Disease Name:
Spinocerebellar Ataxia 10
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Amyotrophic lateral sclerosis and cerebellum.
Autorzy:
Kabiljo R; Department of Biostatistics and Health Informatics, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, Denmark Hill, London, SE5 8AF, UK. .
Iacoangeli A; Department of Biostatistics and Health Informatics, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, Denmark Hill, London, SE5 8AF, UK.
Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.
Rosenzweig I; Department of Neuroimaging, Sleep and Brain Plasticity Centre, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London, UK.
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Źródło:
Scientific reports [Sci Rep] 2022 Jul 22; Vol. 12 (1), pp. 12586. Date of Electronic Publication: 2022 Jul 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
C9orf72 Protein/genetics ; Cerebellum/pathology ; DNA Repeat Expansion ; Genome-Wide Association Study ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hyperexcitability in young iPSC-derived C9ORF72 mutant motor neurons is associated with increased intracellular calcium release.
Autorzy:
Burley S; Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK.; School of Biology, University of St Andrews, North Haugh, St Andrews, UK.
Beccano-Kelly DA; Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK.; UK Dementia Research Institute, University of Cardiff, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK.
Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Llana OC; Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK.; Bristol Medical School, Translational Health Sciences, University of Bristol, Dorothy Hodgkin Building, Whitson Street, Bristol, BS1 3NY, UK.
Wade-Martins R; Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK. .
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Źródło:
Scientific reports [Sci Rep] 2022 May 05; Vol. 12 (1), pp. 7378. Date of Electronic Publication: 2022 May 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Induced Pluripotent Stem Cells*
C9orf72 Protein/genetics ; Calcium ; DNA Repeat Expansion ; Humans ; Motor Neurons
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes.
Autorzy:
Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milano, Italy.
Peverelli S; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.
D'Adda E; U.O.C. of Neurology - Stroke Unit, ASST Crema, Crema, Italy.
Colombrita C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.
Gennuso M; U.O.C. of Neurology - Stroke Unit, ASST Crema, Crema, Italy.
Prelle A; U.O.C. of Neurology - Stroke Unit, ASST Ovest milanese, Legnano, Italy.
Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milano, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milano, Italy.
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2022 May; Vol. 23 (3-4), pp. 292-298. Date of Electronic Publication: 2021 Aug 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Frontotemporal Dementia*/genetics
Parkinson Disease*/genetics
C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Epigenesis, Genetic/genetics ; Humans ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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