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Wyszukujesz frazę ""Myotonic Dystrophy"" wg kryterium: Temat


Tytuł :
Sleep disorders in myotonic dystrophies.
Autorzy :
Subramony SH; Department of Neurology, University of Florida College of Medicine, McKnight Brain Institute, Gainesville, Florida.
Wymer JP; Department of Neurology, University of Florida College of Medicine, McKnight Brain Institute, Gainesville, Florida.
Pinto BS; Department of Molecular Genetics & Microbiology, Center for NeuroGenetics, UF Genetics Institute, University of Florida College of Medicine, Gainesville, Florida.
Wang ET; Department of Molecular Genetics & Microbiology, Center for NeuroGenetics, UF Genetics Institute, University of Florida College of Medicine, Gainesville, Florida.
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Źródło :
Muscle & nerve [Muscle Nerve] 2020 Sep; Vol. 62 (3), pp. 309-320. Date of Electronic Publication: 2020 Apr 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Fatigue/*complications
Myotonic Dystrophy/*complications
Sleep Wake Disorders/*complications
Fatigue/physiopathology ; Humans ; Myotonic Dystrophy/physiopathology ; Sleep Wake Disorders/physiopathology
Czasopismo naukowe
Tytuł :
Improved grip myotonia in a patient with myotonic dystrophy type 1 following electroacupuncture therapy: A CARE-compliant case report.
Autorzy :
Yoon SH; Chung-Yeon Central Institute.; Chung-Yeon Korean Medicine Hospital, Seo-gu, Gwangju.
Baek JH; Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine.
Leem J; Chung-Yeon Central Institute.; Research and Development Institute, CY Pharma Co., Gangnam-gu, Seoul, Republic of Korea.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Sep 11; Vol. 99 (37), pp. e21845.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Electroacupuncture/*methods
Myotonic Dystrophy/*therapy
Adult ; Female ; Hand Strength/physiology ; Humans ; Myotonic Dystrophy/physiopathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
A Young Patient Presenting with Atrioventricular Block Diagnosed as Myotonic Dystrophy.
Autorzy :
Onoda H; The Second Department of Internal Medicine, University of Toyama, Japan.; Division of Cardiology, Niigata Prefectural Central Hospital, Japan.
Imamura T; The Second Department of Internal Medicine, University of Toyama, Japan.
Ushijima R; The Second Department of Internal Medicine, University of Toyama, Japan.
Sobajima M; The Second Department of Internal Medicine, University of Toyama, Japan.
Kinugawa K; The Second Department of Internal Medicine, University of Toyama, Japan.
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Źródło :
Internal medicine (Tokyo, Japan) [Intern Med] 2020 Jun 15; Vol. 59 (12), pp. 1531-1533. Date of Electronic Publication: 2020 Mar 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Myotonic Dystrophy/*diagnosis
Adult ; Atrioventricular Block/diagnosis ; Diagnosis, Differential ; Electrocardiography ; Female ; Humans ; Myotonic Dystrophy/physiopathology ; Syncope
Czasopismo naukowe
Tytuł :
Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study.
Autorzy :
Eriksson BM; Regional Pediatric Rehabilitation Center, Silvia Children's Hospital, Queen, Gothenburg.
Ekström AB; Regional Pediatric Rehabilitation Center, Silvia Children's Hospital, Queen, Gothenburg.
Peny-Dahlstrand M; Regional Pediatric Rehabilitation Center, Silvia Children's Hospital, Queen, Gothenburg.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
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Źródło :
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Jun; Vol. 62 (6), pp. 723-728. Date of Electronic Publication: 2019 Nov 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Activities of Daily Living*
Motor Activity/*physiology
Motor Skills/*physiology
Myotonic Dystrophy/*physiopathology
Myotonic Dystrophy/*psychology
Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Male ; Myotonic Dystrophy/etiology ; Young Adult
Czasopismo naukowe
Tytuł :
Non-routine cardiac tests still have no defined role in assessment of myotonic dystrophy type 2.
Autorzy :
Peric S; Department for Neuromuscular Disorders, Neurology Clinic, School of Medicine, Clinical Centre of Serbia, University of Belgrade, 6, Dr Subotic Street, 11000, Belgrade, Serbia. .
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Źródło :
Acta neurologica Belgica [Acta Neurol Belg] 2020 Aug; Vol. 120 (4), pp. 967-968. Date of Electronic Publication: 2019 Jun 21.
Typ publikacji :
Letter; Comment
MeSH Terms :
Leukoencephalopathies*
Myotonic Dystrophy*
Stroke*
Cathepsin A ; Electrocardiography ; Humans
Opinia redakcyjna
Tytuł :
Resection and repair of a Cas9 double-strand break at CTG trinucleotide repeats induces local and extensive chromosomal deletions.
Autorzy :
Mosbach V; Institut Pasteur, CNRS, UMR3525, Paris, France.
Viterbo D; Institut Pasteur, CNRS, UMR3525, Paris, France.
Descorps-Declère S; Institut Pasteur, CNRS, UMR3525, Paris, France.; Institut Pasteur, Center of Bioinformatics, Biostatistics and Integrative Biology (C3BI), Paris, France.
Poggi L; Institut Pasteur, CNRS, UMR3525, Paris, France.; Sorbonne Universités, Collège doctoral, Paris, France.
Vaysse-Zinkhöfer W; Institut Pasteur, CNRS, UMR3525, Paris, France.; Sorbonne Universités, Collège doctoral, Paris, France.
Richard GF; Institut Pasteur, CNRS, UMR3525, Paris, France.
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Źródło :
PLoS genetics [PLoS Genet] 2020 Jul 16; Vol. 16 (7), pp. e1008924. Date of Electronic Publication: 2020 Jul 16 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Breaks, Double-Stranded*
Recombination, Genetic*
Myotonic Dystrophy/*genetics
Trinucleotide Repeats/*genetics
CRISPR-Associated Protein 9/genetics ; CRISPR-Cas Systems ; Chromosome Deletion ; Chromosomes, Fungal/genetics ; DNA End-Joining Repair/genetics ; DNA Ligase ATP/genetics ; DNA Repair/genetics ; DNA-Binding Proteins/genetics ; Endonucleases/genetics ; Gene Conversion/genetics ; Genome, Human/genetics ; Humans ; Myotonic Dystrophy/pathology ; Rad52 DNA Repair and Recombination Protein/genetics ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae Proteins/genetics ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł :
Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks.
Autorzy :
Kamali T
Hagerman KA
Day JW
Sampson J
Lim KO
Mueller BA
Wozniak J
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Źródło :
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference [Annu Int Conf IEEE Eng Med Biol Soc] 2020 Jul; Vol. 2020, pp. 1714-1717.
Typ publikacji :
Journal Article
MeSH Terms :
Myotonic Dystrophy*/diagnostic imaging
Adult ; Delayed Diagnosis ; Humans ; Magnetic Resonance Imaging ; Neural Networks, Computer ; Quality of Life
Czasopismo naukowe
Tytuł :
Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1.
Autorzy :
Knak KL; From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark. .
Sheikh AM; From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark.
Andersen H; From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark.
Witting N; From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark.
Vissing J; From the Department of Neurology (K.L.K., A.M.S., N.W., J.V.), Rigshospitalet, Copenhagen; and Department of Neurology (H.A.), Aarhus University Hospital, Denmark.
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Źródło :
Neurology [Neurology] 2020 Jun 16; Vol. 94 (24), pp. e2508-e2520. Date of Electronic Publication: 2020 May 26.
Typ publikacji :
Journal Article
MeSH Terms :
Myotonic Dystrophy/*physiopathology
Adult ; Aged ; Cohort Studies ; Exercise Test ; Female ; Hand Strength ; Humans ; Lower Extremity/physiopathology ; Male ; Middle Aged ; Mobility Limitation ; Muscle Strength ; Muscle Strength Dynamometer ; Myotonic Dystrophy/therapy ; Observer Variation ; Postural Balance ; Reproducibility of Results ; Treatment Outcome ; Walk Test
Czasopismo naukowe
Tytuł :
Understanding factors hampering activities of daily living performance in childhood-onset myotonic dystrophy phenotypes.
Autorzy :
Gagnon C; Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Québec, Canada.; Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de Médecine et des Sciences de la Santé, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Gallais B; Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Québec, Canada.; Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de Médecine et des Sciences de la Santé, Université de Sherbrooke, Sherbrooke, Québec, Canada.; ÉCOBES - Recherche et transfert, Cégep de Jonquière, Jonquière, Québec, Canada.
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Źródło :
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Jun; Vol. 62 (6), pp. 665. Date of Electronic Publication: 2019 Dec 16.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Myotonic Dystrophy*/genetics
Activities of Daily Living ; Child ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.
Autorzy :
Misra C; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Bangru S; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Lin F; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Lam K; Department of Physics, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Koenig SN; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Lubbers ER; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Hedhli J; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Murphy NP; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Parker DJ; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Dobrucki LW; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Cooper TA; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Tajkhorshid E; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Department of Physics, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Mohler PJ; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Kalsotra A; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Carl R. Woese Institute for Genomic Biology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA. Electronic address: .
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Źródło :
Developmental cell [Dev Cell] 2020 Mar 23; Vol. 52 (6), pp. 748-763.e6. Date of Electronic Publication: 2020 Feb 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Action Potentials*
Heart Rate*
RNA Splicing*
Myotonic Dystrophy/*genetics
RNA Splicing Factors/*genetics
Repressor Proteins/*genetics
Adult ; Animals ; Cells, Cultured ; Female ; Humans ; Male ; Mice, Inbred C57BL ; Mice, Inbred ICR ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Middle Aged ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/physiology ; Myotonic Dystrophy/metabolism ; Myotonic Dystrophy/physiopathology ; Potassium Channels, Voltage-Gated/genetics ; Potassium Channels, Voltage-Gated/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA Splicing Factors/metabolism ; Repressor Proteins/metabolism ; Voltage-Gated Sodium Channels/genetics ; Voltage-Gated Sodium Channels/metabolism
Czasopismo naukowe
Tytuł :
Editorial commentary: Myotonic Dystrophy: The "right weapons" to fight the long battle against sudden cardiac death.
Autorzy :
Russo V; Chair of Cardiology, Department of Traslational Medical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy; Electrophysiology and Cardiac Pacing Unit, Department of Cardiology, Monaldi Hospital, Naples, Italy. Electronic address: .
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Źródło :
Trends in cardiovascular medicine [Trends Cardiovasc Med] 2020 May; Vol. 30 (4), pp. 239-240. Date of Electronic Publication: 2019 Jul 10.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Myotonic Dystrophy*
Death, Sudden, Cardiac ; Electrocardiography ; Humans
Opinia redakcyjna
Tytuł :
Activities of daily living in myotonic dystrophy type 1.
Autorzy :
Landfeldt E; Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden.
Nikolenko N; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.
Jimenez-Moreno C; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Cumming S; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Monckton DG; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Faber CG; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.
Merkies ISJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Neurology, Curaçao Medical Centre, Willemstad, Curaçao.
Gorman G; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle, UK.
Turner C; National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.; Queen Square Department of Neuromuscular Disease, University College London, London, UK.
Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Centre-University of Freiburg, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
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Źródło :
Acta neurologica Scandinavica [Acta Neurol Scand] 2020 May; Vol. 141 (5), pp. 380-387. Date of Electronic Publication: 2020 Jan 21.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Activities of Daily Living*
Disability Evaluation*
Myotonic Dystrophy*/complications
Myotonic Dystrophy*/physiopathology
Adult ; Cross-Sectional Studies ; Disabled Persons ; Female ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Cardiovascular manifestations of myotonic dystrophy.
Autorzy :
Wahbi K; APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie Neuromusculaire, Nord Est, Ile de France, Paris-Descartes, Sorbonne Paris Cité University, Cochin Hospital, 27 Rue du Faubourg Saint Jacques, 75679 Paris Cedex 14 Paris, France. Electronic address: .
Furling D; Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
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Źródło :
Trends in cardiovascular medicine [Trends Cardiovasc Med] 2020 May; Vol. 30 (4), pp. 232-238. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cardiac Pacing, Artificial*/adverse effects
Cardiac Pacing, Artificial*/mortality
Electric Countershock*/adverse effects
Electric Countershock*/instrumentation
Electric Countershock*/mortality
Arrhythmias, Cardiac/*therapy
Death, Sudden, Cardiac/*prevention & control
Myotonic Dystrophy/*epidemiology
Animals ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/mortality ; Arrhythmias, Cardiac/physiopathology ; Death, Sudden, Cardiac/epidemiology ; Defibrillators, Implantable ; Genetic Predisposition to Disease ; Humans ; Myotonic Dystrophy/genetics ; Myotonic Dystrophy/mortality ; Myotonic Dystrophy/physiopathology ; Pacemaker, Artificial ; Prevalence ; Risk Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
Autorzy :
Sznajder ŁJ; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA. .
Scotti MM; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Shin J; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.; Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers New Jersey Medical School and Rutgers Cancer Institute of New Jersey, Newark, NJ, 07103, USA.
Taylor K; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.; Laboratory of Gene Therapy, Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, Umultowska 89, 61-614 Poznań, Poland.
Ivankovic F; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Nutter CA; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Aslam FN; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Subramony SH; Department of Neurology, Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Ranum LPW; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA.
Swanson MS; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL, 32610, USA. .
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Źródło :
Nature communications [Nat Commun] 2020 Apr 24; Vol. 11 (1), pp. 2022. Date of Electronic Publication: 2020 Apr 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA-Binding Proteins/*genetics
Myotonic Dystrophy/*genetics
RNA-Binding Proteins/*genetics
RNA-Binding Proteins/*metabolism
Thymus Gland/*growth & development
Adult ; Aged ; Aged, 80 and over ; Animals ; DNA Repeat Expansion ; DNA-Binding Proteins/metabolism ; Female ; Humans ; Introns/genetics ; Male ; Mice ; Mice, Knockout ; Microsatellite Repeats/genetics ; Middle Aged ; Myotonic Dystrophy/blood ; Myotonic Dystrophy/immunology ; RNA Splicing/immunology ; RNA-Seq ; Thymus Gland/immunology ; Young Adult
Czasopismo naukowe
Tytuł :
Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy Is Not Unusual.
Autorzy :
Finsterer J; City Hospital Rudolfstiftung, Messerli Institute, Austria.
A Scorza F; Department of Neuroscience, Federal University of São Paulo (EPM/UNIFESP), Brasil.
C Fiorini A; Department of Phonoaudiology, Catholic University of São Paulo (PUC-SP), Federal University of São Paulo (EPM/UNIFESP), Brasil.
A Scorza C; Department of Neuroscience, Federal University of São Paulo (EPM/UNIFESP), Brasil.
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Źródło :
Internal medicine (Tokyo, Japan) [Intern Med] 2020 Mar 15; Vol. 59 (6), pp. 873. Date of Electronic Publication: 2019 Nov 18.
Typ publikacji :
Letter; Comment
MeSH Terms :
Esophageal Achalasia*
Myotonic Dystrophy*
Humans ; Muscle, Skeletal ; Muscle, Smooth ; Trinucleotide Repeats
Opinia redakcyjna
Tytuł :
Secondary Achalasia in Myotonic Dystrophy May Have a Different Pathology and Management.
Autorzy :
Sato H; Division of Gastroenterology and Hepatology, Niigata University Medical and Dental Hospital, Japan.
Mizuno KI; Division of Gastroenterology and Hepatology, Niigata University Medical and Dental Hospital, Japan.
Hashimoto S; Division of Gastroenterology and Hepatology, Niigata University Medical and Dental Hospital, Japan.
Takatsuna M; Division of Gastroenterology and Hepatology, Niigata University Medical and Dental Hospital, Japan.
Terai S; Division of Gastroenterology and Hepatology, Niigata University Medical and Dental Hospital, Japan.
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Źródło :
Internal medicine (Tokyo, Japan) [Intern Med] 2020 Mar 15; Vol. 59 (6), pp. 875. Date of Electronic Publication: 2019 Nov 18.
Typ publikacji :
Letter; Comment
MeSH Terms :
Laparoscopy*
Myotonic Dystrophy*
Esophageal Achalasia/*surgery
Fundoplication ; Humans
Opinia redakcyjna
Tytuł :
HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy.
Autorzy :
Li M; School of Life Science and Technology, The Key Laboratory of Developmental Genes and Human Disease, Southeast University, 210096 Nanjing, China; .; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.; Jiangsu Co-innovation Center of Neuroregeneration, Nantong University, 226001 Nantong, China.
Zhuang Y; School of Life Science and Technology, The Key Laboratory of Developmental Genes and Human Disease, Southeast University, 210096 Nanjing, China.
Batra R; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Thomas JD; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Li M; Department of Neurology, The General Hospital of Chinese People's Liberation Army, 100853 Beijing, China.
Nutter CA; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Scotti MM; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Carter HA; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Wang ZJ; Department of Neurology, Xuan Wu Hospital of Capital Medical University, 100053 Beijing, China.
Huang XS; Department of Neurology, The General Hospital of Chinese People's Liberation Army, 100853 Beijing, China.
Pu CQ; Department of Neurology, The General Hospital of Chinese People's Liberation Army, 100853 Beijing, China.
Swanson MS; Department of Molecular Genetics and Microbiology, Genetics Institute and the Center for NeuroGenetics, University of Florida, College of Medicine, Gainesville, FL 32610.
Xie W; School of Life Science and Technology, The Key Laboratory of Developmental Genes and Human Disease, Southeast University, 210096 Nanjing, China; .; Jiangsu Co-innovation Center of Neuroregeneration, Nantong University, 226001 Nantong, China.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Mar 10; Vol. 117 (10), pp. 5472-5477. Date of Electronic Publication: 2020 Feb 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
Heterogeneous Nuclear Ribonucleoprotein A1/*genetics
Heterogeneous Nuclear Ribonucleoprotein A1/*metabolism
Myotonic Dystrophy/*genetics
Animals ; CELF1 Protein/genetics ; DNA-Binding Proteins/metabolism ; Disease Models, Animal ; Fetus ; Humans ; Mice ; Mice, Transgenic ; Myotonic Dystrophy/metabolism ; Myotonic Dystrophy/pathology ; RNA-Binding Proteins/metabolism
Czasopismo naukowe
Tytuł :
CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis.
Autorzy :
Puy V; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.; Laboratoire de Développement des Gonades, UMRE008 Stabilité Génétique Cellules Souches et Radiations, Université de Paris, Université Paris-Saclay, CEA, Fontenay-aux-Roses, France.
Mayeur A; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.
Levy A; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.
Hesters L; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.
Raad J; Department of Reproductive Medicine and Fertility Preservation, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.
Monnot S; Institut Imagine et Service de Génétique Moléculaire, Université de Paris, Hôpital Necker Enfants Malades, Paris, France.
Steffann J; Institut Imagine et Service de Génétique Moléculaire, Université de Paris, Hôpital Necker Enfants Malades, Paris, France.
Frydman N; Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.; Laboratoire de Développement des Gonades, UMRE008 Stabilité Génétique Cellules Souches et Radiations, Université de Paris, Université Paris-Saclay, CEA, Fontenay-aux-Roses, France.
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Mar 01; Vol. 105 (3).
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Sperm Motility*
Trinucleotide Repeat Expansion*
Myotonic Dystrophy/*genetics
Myotonin-Protein Kinase/*genetics
Preimplantation Diagnosis/*methods
Spermatozoa/*chemistry
Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Myotonic Dystrophy/physiopathology ; Ovarian Reserve ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Retrospective Studies ; Semen Analysis
Czasopismo naukowe
Tytuł :
Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Autorzy :
Flower M; Department of Neurodegenerative Disease and Dementia Research Institute, UCL, UK.
Lomeikaite V; Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK.
Holmans P; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK.
Jones L; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK.
Tabrizi SJ; Department of Neurodegenerative Disease and Dementia Research Institute, UCL, UK.
Monckton DG; Institute of Molecular, Cell and Systems Biology, University of Glasgow, UK.
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Źródło :
Brain : a journal of neurology [Brain] 2020 Apr 01; Vol. 143 (4), pp. e26.
Typ publikacji :
Letter; Comment
MeSH Terms :
Friedreich Ataxia*
Machado-Joseph Disease*
Myotonic Dystrophy*
Humans ; MutS Homolog 3 Protein ; Phenotype ; Trinucleotide Repeats
Opinia redakcyjna
Tytuł :
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Autorzy :
Yau WY; Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.
Raposo M; Faculty of Sciences and Technology, University of Azores, Ponta Delgada, Portugal.; Institute for Molecular and Cell Biology, Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
Bettencourt C; The Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Vasconcelos J; Department of Neurology, Hospital of Divino Espírito Santo, Ponta Delgada, Portugal.
Parkinson MH; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
Wood NW; Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Lima M; Faculty of Sciences and Technology, University of Azores, Ponta Delgada, Portugal.; Institute for Molecular and Cell Biology, Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
Houlden H; Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
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Źródło :
Brain : a journal of neurology [Brain] 2020 Apr 01; Vol. 143 (4), pp. e25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Friedreich Ataxia*
Machado-Joseph Disease*
Myotonic Dystrophy*
Humans ; MutS Homolog 3 Protein ; Phenotype ; Trinucleotide Repeats
Czasopismo naukowe

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