Temat: "Muscular dystrophy" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: [Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy].
Autorzy :: Bernert G; Sozialmedizinisches Zentrum Süd, Kaiser-Franz-Josef-Spital mit Gottfried von Preyer'schem Kinderspital, Wien, Österreich.
Hahn A; Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Gießen, Deutschland.
Köhler C; Abteilung Neuropädiatrie, Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Ruhr-Universität Bochum, Bochum, Deutschland.
Meyer S; Sektion Neuropädiatrie, Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes, Homburg, Deutschland.
Schara U; Abteilung für Neuropädiatrie, Zentrum für neuromuskuläre Erkrankungen des Kindes- und Jugendalters, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland.
Schlachter K; Abteilung Kinder- und Jugendheilkunde, Landeskrankenhaus (LKH) Bregenz, Bregenz, Österreich.
Trollmann R; Abteilung Neuropädiatrie und Sozialpädiatrisches Zentrum, Kinder- und Jugendklinik am Universitätsklinikum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland.
Walter MC; Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, München, Deutschland. .; Pokaż więcej
Transliterated Title :: Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne.
Źródło :: Der Nervenarzt [Nervenarzt] 2021 Apr; Vol. 92 (4), pp. 359-366. Date of Electronic Publication: 2020 Nov 19.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/drug therapy
Muscular Dystrophy, Duchenne*/genetics
Adolescent ; Adult ; Child ; Codon, Nonsense ; Dystrophin/genetics ; Exons ; Gait ; Humans
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Age-related changes in appendicular lean mass in males with Duchenne muscular dystrophy: A retrospective review.
Autorzy :: Summer SS; Center for Clinical and Translational Science and Training, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Wong BL; DMD Program, Department of Pediatrics and Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Rutter MM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Horn PS; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Tian C; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Rybalsky I; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Shellenbarger KC; DMD Program, Department of Pediatrics and Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Kalkwarf HJ; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 231-238. Date of Electronic Publication: 2020 Dec 07.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :: Body Composition*
Extremities/*diagnostic imaging
Muscle, Skeletal/*diagnostic imaging
Muscular Dystrophy, Duchenne/*diagnostic imaging
Absorptiometry, Photon ; Adolescent ; Age Factors ; Case-Control Studies ; Child ; Child, Preschool ; Disease Progression ; Functional Status ; Glucocorticoids/therapeutic use ; Humans ; Linear Models ; Male ; Mobility Limitation ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/physiopathology ; Organ Size ; Retrospective Studies ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Autorzy :: Haber G; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Conway KM; Department of Epidemiology, University of Iowa, Iowa City, Iowa, USA.
Paramsothy P; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Roy A; Department of Mathematics and Statistics, University of Maryland, Baltimore County, Baltimore, Maryland, USA.
Rogers H; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Ling X; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Kozauer N; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.
Street N; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, Iowa, USA.
Fox DJ; Bureau of Environmental and Occupational Epidemiology, New York State Department of Health, Albany, New York, USA.
Phan HC; Department of Pediatrics, Division of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Matthews D; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Aurora, Colorado, USA.
Ciafaloni E; Department of Neurology, University of Rochester, Rochester, New York, USA.
Oleszek J; Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Aurora, Colorado, USA.
James KA; School of Public Health, University of Colorado, Boulder, Colorado, USA.
Galindo M; Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.
Whitehead N; Research Triangle Institute International, Research Triangle Park, North Carolina, USA.
Johnson N; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, Utah, USA.
Pandya S; Department of Neurology, University of Rochester, Rochester, New York, USA.
Venkatesh S; Department of Neurology, University of South Carolina, Columbia, South Carolina, USA.
Bhattaram VA; Center for Drug Evaluation and Research, Food & Drug Administration, Silver Spring, Maryland, USA.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 181-191. Date of Electronic Publication: 2020 Nov 17.
Typ publikacji :: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :: Mobility Limitation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Muscular Dystrophy, Duchenne/*physiopathology
Adolescent ; Adrenal Cortex Hormones/therapeutic use ; Child ; Dependent Ambulation ; Disease Progression ; Exons ; Gene Duplication ; Humans ; Male ; Muscular Dystrophy, Duchenne/drug therapy ; Point Mutation ; Proportional Hazards Models ; Sequence Deletion ; Wheelchairs
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: (-)-Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy.
Autorzy :: McDonald CM; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Ramirez-Sanchez I; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA.; Escuela Superior de Medicina, Seccion de Posgrado e Investigacion, del Instituto Politécnico Nacional, Mexico City, Mexico.
Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
Joyce N; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Aguilar C; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Nicorici A; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Dayan J; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Goude E; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Abresch RT; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Villarreal F; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA.
Ceballos G; Escuela Superior de Medicina, Seccion de Posgrado e Investigacion, del Instituto Politécnico Nacional, Mexico City, Mexico.
Perkins G; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA.
Dugar S; Epirium Bio, Inc (formerly Cardero Therapeutics, Inc), San Diego, California, USA.
Schreiner G; Epirium Bio, Inc (formerly Cardero Therapeutics, Inc), San Diego, California, USA.
Henricson EK; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 239-249. Date of Electronic Publication: 2020 Dec 16.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Catechin/*therapeutic use
Muscle, Skeletal/*metabolism
Muscular Dystrophy, Duchenne/*drug therapy
Adult ; Biopsy ; Blotting, Western ; Creatine Kinase/metabolism ; Dysferlin/metabolism ; Exercise Test ; Follistatin/metabolism ; Heart Rate ; Humans ; Lactic Acid/blood ; MEF2 Transcription Factors/metabolism ; Male ; Microscopy, Electron ; Middle Aged ; Mitochondria/ultrastructure ; Mitochondrial Proteins/metabolism ; Mitochondrial Size ; Muscle Proteins/metabolism ; Muscle Strength ; Muscle, Skeletal/physiopathology ; Muscle, Skeletal/ultrastructure ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/physiopathology ; MyoD Protein/metabolism ; Myogenic Regulatory Factor 5/metabolism ; Myogenin/metabolism ; Myostatin/metabolism ; Organelle Biogenesis ; Oxygen Consumption ; Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha/metabolism ; Regeneration ; Utrophin/metabolism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Passive stiffness of fibrotic skeletal muscle in mdx mice relates to collagen architecture.
Autorzy :: Brashear SE; Department of Neurobiology, Physiology, and Behavior, University of California Davis.
Wohlgemuth RP; Department of Neurobiology, Physiology, and Behavior, University of California Davis.
Gonzalez G; Department of Neurobiology, Physiology, and Behavior, University of California Davis.
Smith LR; Department of Neurobiology, Physiology, and Behavior, University of California Davis.; Department of Physical Medicine and Rehabilitation, University of California Davis.; Pokaż więcej
Źródło :: The Journal of physiology [J Physiol] 2021 Feb; Vol. 599 (3), pp. 943-962. Date of Electronic Publication: 2020 Dec 18.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :: Muscular Dystrophy, Animal*
Muscular Dystrophy, Duchenne*
Animals ; Collagen ; Fibrosis ; Mice ; Mice, Inbred C57BL ; Mice, Inbred mdx ; Muscle Contraction ; Muscle, Skeletal/pathology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: [Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report].
Autorzy :: Tian ZY; Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.
Ma W; Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.
Zhao ZY; Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.
Li M; Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.; Pokaż więcej
Źródło :: Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology [Hua Xi Kou Qiang Yi Xue Za Zhi] 2021 Apr 01; Vol. 39 (2), pp. 230-232.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Basal Cell Nevus Syndrome*/diagnosis
Muscular Dystrophy, Duchenne*
Child ; Humans ; Mutation
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
Autorzy :: de Feraudy Y; Paris-Saclay University, UVSQ, Inserm, END-ICAP, Versailles, France.; Neuromuscular Reference Center, Pediatric Department, Raymond Poincaré Hospital, Garches, France.
Ben Yaou R; Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.; Center of Research in Myology, Sorbonne University, Inserm UMRS 974, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
Wahbi K; Cardiology Department, APHP, Cochin Hospital, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Stalens C; Biostatistic, Medical Affairs Direction, AFM-Théléthon, Evry, France.
Stantzou A; Paris-Saclay University, UVSQ, Inserm, END-ICAP, Versailles, France.
Laugel V; Neuromuscular Reference Center, Pediatric Department, Hautepierre Hospital, Strasbourg, France.
Desguerre I; Neuromuscular Reference Center, Pediatric Department, Necker-Enfants Malades Hospital, Paris, France.
Servais L; Department of Pediatrics, Neuromuscular Disease Reference Center, Division of Child Neurology, Faculty of Medicine, University of Liège, Liège, Belgium.; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.
Leturcq F; Laboratory for Biochemistry and Molecular Genetics, Cochin Hospital, Paris, France.
Amthor H; Paris-Saclay University, UVSQ, Inserm, END-ICAP, Versailles, France.; Neuromuscular Reference Center, Pediatric Department, Raymond Poincaré Hospital, Garches, France.; Pokaż więcej
Corporate Authors :: FILNEMUS Network
Źródło :: Annals of neurology [Ann Neurol] 2021 Feb; Vol. 89 (2), pp. 280-292. Date of Electronic Publication: 2020 Nov 24.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Dystrophin/*metabolism
Muscle, Skeletal/*metabolism
Muscular Dystrophy, Duchenne/*metabolism
Muscular Dystrophy, Duchenne/*physiopathology
Adolescent ; Adrenal Cortex Hormones/therapeutic use ; Adult ; Age of Onset ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Blotting, Western ; Child ; Cohort Studies ; Disease Progression ; Dystrophin/genetics ; Humans ; Male ; Mobility Limitation ; Mortality ; Muscular Dystrophy, Duchenne/therapy ; Noninvasive Ventilation/statistics & numerical data ; Oxadiazoles/therapeutic use ; Phenotype ; Proportional Hazards Models ; Retrospective Studies ; Severity of Illness Index ; Spinal Fusion/statistics & numerical data ; Stroke Volume ; Tracheostomy/statistics & numerical data ; Vital Capacity ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: Walking activity in a large cohort of boys with Duchenne muscular dystrophy.
Autorzy :: Lott DJ; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.
Taivassalo T; Department of Physiology and Functional Genomics, University of Florida, Gainesville, Florida, USA.
Senesac CR; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.
Willcocks RJ; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.
Harrington AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Zilke K; Oregon Health & Science University, Shriners Hospitals for Children, Portland, Oregon, USA.
Cunkle H; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.
Powers C; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.
Finanger EL; Department of Pediatrics, Oregon Health and Science University, Portland, Oregon, USA.
Rooney WD; Advanced Imaging Research Center, Oregon Health and Science University, Portland, Oregon, USA.
Tennekoon GI; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Vandenborne K; Department of Physical Therapy, University of Florida, College of Public Health & Health Professions, Gainesville, Florida, USA.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 192-198. Date of Electronic Publication: 2020 Nov 27.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :: Exercise*
Walking*
Muscular Dystrophy, Duchenne/*physiopathology
Accelerometry ; Activities of Daily Living ; Case-Control Studies ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Functional Status ; Glucocorticoids/therapeutic use ; Humans ; Male ; Mobility Limitation ; Muscular Dystrophy, Duchenne/drug therapy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies.
Autorzy :: Sheikh O; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, Canada.
Yokota T; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta , Edmonton, Canada.; Pokaż więcej
Źródło :: Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2021 Feb; Vol. 30 (2), pp. 167-176. Date of Electronic Publication: 2021 Jan 06.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Genetic Therapy*/adverse effects
Cell-Penetrating Peptides/*therapeutic use
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*therapy
Oligonucleotides/*therapeutic use
Animals ; Cell-Penetrating Peptides/adverse effects ; Codon, Terminator ; Drug Development ; Drugs, Investigational/adverse effects ; Drugs, Investigational/therapeutic use ; Exons ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Humans ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Mutation ; Oligonucleotides/adverse effects ; Steroids/adverse effects ; Steroids/therapeutic use ; Treatment Outcome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: A Great Athlete with Muscular Weakness.
Autorzy :: Bourguiba R; Department of Internal Medicine, Assistance Publique-Hôpitaux de Paris, Hopital Tenon, Paris, France. Electronic address: .
Masingue M; Reference Center for Neuromuscular Diseases Nord-Est-Ile de France, Institute of Myology, CHU Pitié Salpetrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Marc PJ; Department of Genetics, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
Lenglet T; Department of Clinical Neurophysiology, Hôpitaux Universitaires Pitié-Salpêtrière Charles Foix, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Bachmeyer C; Department of Internal Medicine, Assistance Publique-Hôpitaux de Paris, Hopital Tenon, Paris, France.; Pokaż więcej
Źródło :: The American journal of medicine [Am J Med] 2021 Feb; Vol. 134 (2), pp. e109-e110. Date of Electronic Publication: 2020 Aug 22.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Athletes*
Muscular Dystrophy, Facioscapulohumeral/*diagnosis
Genetic Predisposition to Disease ; Humans ; Male ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 11 11.

Tytuł :: CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
Autorzy :: Rieken A; From the Departments of Pathology (A.R., A.D.B., S.A.M.) and Pediatrics and Neurology (A.R., K.D.M.), Carver College of Medicine, The University of Iowa, Iowa City.
Bossler AD; From the Departments of Pathology (A.R., A.D.B., S.A.M.) and Pediatrics and Neurology (A.R., K.D.M.), Carver College of Medicine, The University of Iowa, Iowa City.
Mathews KD; From the Departments of Pathology (A.R., A.D.B., S.A.M.) and Pediatrics and Neurology (A.R., K.D.M.), Carver College of Medicine, The University of Iowa, Iowa City.
Moore SA; From the Departments of Pathology (A.R., A.D.B., S.A.M.) and Pediatrics and Neurology (A.R., K.D.M.), Carver College of Medicine, The University of Iowa, Iowa City. .; Pokaż więcej
Źródło :: Neurology [Neurology] 2021 Feb 16; Vol. 96 (7), pp. e1054-e1062. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :: Alleles*
Mutation*
Chromosomal Proteins, Non-Histone/*genetics
Muscular Dystrophy, Facioscapulohumeral/*diagnosis
DNA Methylation ; Diagnostic Tests, Routine ; Humans ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Pathology, Molecular ; Phenotype
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Duchenne muscular dystrophy: an overview to the cardiologist.
Autorzy :: de Souza F; Cardiology Section, Department of Specialized Medicine, School of Medicine and Surgery, Federal University of the State of Rio De Janeiro , Rio de Janeiro, Brazil.
Bittar Braune C; Neurology Section, Gaffrée and Guinle University Hospital , Rio de Janeiro, Brazil.
Dos Santos Nucera APC; Cardiology Section, Department of Specialized Medicine, School of Medicine and Surgery, Federal University of the State of Rio De Janeiro , Rio de Janeiro, Brazil.; Pokaż więcej
Źródło :: Expert review of cardiovascular therapy [Expert Rev Cardiovasc Ther] 2020 Dec; Vol. 18 (12), pp. 867-872. Date of Electronic Publication: 2020 Oct 12.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Cardiomyopathy, Dilated/*etiology
Muscular Dystrophy, Duchenne/*physiopathology
Cardiologists ; Child ; Child, Preschool ; Disease Progression ; Echocardiography ; Humans ; Magnetic Resonance Imaging ; Male ; Muscular Dystrophy, Duchenne/complications ; Muscular Dystrophy, Duchenne/therapy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 13 13.

Tytuł :: Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.
Autorzy :: Brusa R; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Magri F; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Bresolin N; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Corti S; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. .; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy. .; Pokaż więcej
Źródło :: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2020 Nov; Vol. 77 (21), pp. 4299-4313. Date of Electronic Publication: 2020 Apr 29.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Muscular Dystrophy, Duchenne/*genetics
RNA, Untranslated/*genetics
Animals ; Dystrophin/genetics ; Gene Expression Regulation ; Genetic Therapy ; Humans ; MicroRNAs/genetics ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy ; Prognosis ; RNA, Messenger/genetics ; Transcriptome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Autorzy :: Lassche S; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Schreuder T; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Heerschap A; Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands.
Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
Ottenheijm CA; Department of Physiology, Institute for Cardiovascular Research, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Hopman MT; Department of Physiology, Radboud University Medical Center, Nijmegen, The Netherlands.
van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2021 Jan; Vol. 63 (1), pp. 60-67. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Severity of Illness Index*
Muscle, Skeletal/*pathology
Muscular Dystrophy, Facioscapulohumeral/*pathology
Muscular Dystrophy, Facioscapulohumeral/*physiopathology
Quadriceps Muscle/*pathology
Adult ; Female ; Fibrosis/complications ; Fibrosis/physiopathology ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Muscular Dystrophy, Facioscapulohumeral/complications ; Musculoskeletal Pain/complications ; Musculoskeletal Pain/physiopathology ; Quadriceps Muscle/physiopathology ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 15 15.

Tytuł :: Muscle phenotype of a rat model of Duchenne muscular dystrophy.
Autorzy :: Iyer SR; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Xu S; Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Shah SB; Departments of Orthopaedic Surgery and Bioengineering, University of California San Diego, La Jolla, California, USA.
Lovering RM; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, USA.; Pokaż więcej
Źródło :: Muscle & nerve [Muscle Nerve] 2020 Dec; Vol. 62 (6), pp. 757-761. Date of Electronic Publication: 2020 Sep 22.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Disease Models, Animal*
Rats*
Muscle Contraction/*physiology
Muscle Strength/*physiology
Muscle, Skeletal/*physiopathology
Muscular Dystrophy, Duchenne/*physiopathology
Animals ; Animals, Genetically Modified ; Dystrophin/genetics ; Gene Knockout Techniques ; Hindlimb ; Magnetic Resonance Imaging ; Male ; Muscle Contraction/genetics ; Muscle Strength/genetics ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/diagnostic imaging ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/pathology ; Phenotype ; Quadriceps Muscle/diagnostic imaging ; Quadriceps Muscle/pathology ; Quadriceps Muscle/physiopathology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: Safety and efficacy of teriparatide treatment for severe osteoporosis in patients with Duchenne muscular dystrophy.
Autorzy :: Nasomyont N; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7012, Cincinnati, OH, 45229-3026, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Keefe C; Diabetes and Endocrinology, Helen DeVos Children's Hospital, Grand Rapids, MI, USA.
Tian C; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Hornung L; Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Khoury J; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7012, Cincinnati, OH, 45229-3026, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Tilden JC; Yale University, New Haven, CT, USA.
Hochwalt P; Department of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Jackson E; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Nephrology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rybalsky I; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Wong BL; Department of Pediatrics, University of Massachusetts Memorial Children's Medical Center, University of Massachusetts Medical School, Worcester, MA, USA.
Rutter MM; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7012, Cincinnati, OH, 45229-3026, USA. .; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. .; Pokaż więcej
Źródło :: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2020 Dec; Vol. 31 (12), pp. 2449-2459. Date of Electronic Publication: 2020 Jul 17.
Typ publikacji :: Journal Article
MeSH Terms :: Bone Density Conservation Agents*/adverse effects
Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/drug therapy
Osteoporosis*/drug therapy
Adolescent ; Adult ; Bone Density ; Humans ; Teriparatide/therapeutic use ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: The Effect of Deflazacort Treatment on the Functioning of Skeletal Muscle Mitochondria in Duchenne Muscular Dystrophy.
Autorzy :: Dubinin MV; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Talanov EY; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
Tenkov KS; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Starinets VS; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
Belosludtseva NV; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
Belosludtsev KN; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Biophotonics Center, Prokhorov General Physics Institute, Russian Academy of Sciences, Vavilov st. 38, 119991 Moscow, Russia.; Pokaż więcej
Źródło :: International journal of molecular sciences [Int J Mol Sci] 2020 Nov 19; Vol. 21 (22). Date of Electronic Publication: 2020 Nov 19.
Typ publikacji :: Journal Article
MeSH Terms :: Gene Expression Regulation/*drug effects
Mitochondria, Muscle/*drug effects
Muscle, Skeletal/*drug effects
Muscular Dystrophy, Duchenne/*drug therapy
Pregnenediones/*pharmacology
Adenine Nucleotide Translocator 2/genetics ; Adenine Nucleotide Translocator 2/metabolism ; Adenosine Triphosphate/biosynthesis ; Animals ; Calcium/metabolism ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Cyclophilin D/genetics ; Cyclophilin D/metabolism ; Electron Transport Complex III/genetics ; Electron Transport Complex III/metabolism ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred mdx ; Mitochondria, Muscle/genetics ; Mitochondria, Muscle/metabolism ; Mitochondrial Proton-Translocating ATPases/genetics ; Mitochondrial Proton-Translocating ATPases/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 18 18.

Tytuł :: Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.
Autorzy :: Wang Y; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China. .; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China. .; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China. .; Clinical Biobank Center, Chinese PLA General Hospital, Beijing, 100853, China. .
Chen Y; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China.; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China.; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China.; Department of Pediatrics, Chinese PLA General Hospital, Beijing, 100700, China.
Wang SM; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China.; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China.; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China.; Department of Pediatrics, Chinese PLA General Hospital, Beijing, 100700, China.
Liu X; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China.; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China.; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China.; Department of Pediatrics, Chinese PLA General Hospital, Beijing, 100700, China.
Gu YN; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China.; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China.; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China.; Department of Pediatrics, Chinese PLA General Hospital, Beijing, 100700, China.
Feng Z; Department of Clinical Genetics, BaYi Children's Hospital, Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100700, China. .; National Engineering Laboratory for Birth defects prevention and control of key technology, Beijing, 100700, China. .; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, 100700, China. .; Department of Pediatrics, Chinese PLA General Hospital, Beijing, 100700, China. .; Pokaż więcej
Źródło :: BMC medical genetics [BMC Med Genet] 2020 Nov 11; Vol. 21 (1), pp. 222. Date of Electronic Publication: 2020 Nov 11.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Inheritance Patterns*
Mosaicism*
Mutation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Adult ; Base Sequence ; Child ; Female ; Genetic Testing ; Hemizygote ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Introns ; Male ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/pathology ; Pregnancy ; Prenatal Diagnosis ; Siblings
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 19 19.

Tytuł :: When Ejection Fraction Is Not Enough: The Search for Early Signs of Cardiomyopathy in Duchenne Muscular Dystrophy.
Autorzy :: Renella P; Department of Cardiology, CHOC Children's Hospital, Orange, CA and University of California Irvine School of Medicine, Irvine, CA.
Lai WW; Department of Cardiology, CHOC Children's Hospital, Orange, CA and University of California Irvine School of Medicine, Irvine, CA.; Pokaż więcej
Źródło :: Circulation. Cardiovascular imaging [Circ Cardiovasc Imaging] 2020 Nov; Vol. 13 (11), pp. e012003. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji :: Editorial; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :: Cardiomyopathies*/diagnostic imaging
Cardiomyopathies*/etiology
Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/diagnosis
Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Stroke Volume
: Raport

Szczegóły

Skocz do pozycji: 20 20.

Tytuł :: Impact of Mechanical Ventilation Methods on the Life Perception of Subjects With Duchenne Muscular Dystrophy: French Cross-Sectional Survey.
Autorzy :: Boussaïd G; Direction des Actions Médicales, AFM-Téléthon, Evry, France. .; Université Paris-Saclay, Versailles, France.
Stalens C; Direction des Actions Médicales, AFM-Téléthon, Evry, France.
Devaux C; Direction des Actions Médicales, AFM-Téléthon, Evry, France.
Segovia-Kueny S; Direction des Actions Médicales, AFM-Téléthon, Evry, France.
Lofaso F; Direction des Actions Médicales, AFM-Téléthon, Evry, France.; Université Paris-Saclay, Versailles, France.; Service d'Explorations Fonctionnelles Respiratoires, Hôpital Raymond Poincaré, Garches, France.
Reveillere C; Direction des Actions Médicales, AFM-Téléthon, Evry, France.; Qualité de vie et santé psychologique, Université de Tours, Tours, France.; Pokaż więcej
Źródło :: Respiratory care [Respir Care] 2020 Nov; Vol. 65 (11), pp. 1712-1720. Date of Electronic Publication: 2020 Aug 18.
Typ publikacji :: Journal Article
MeSH Terms :: Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/therapy
Respiration, Artificial*
Respiratory Insufficiency*/etiology
Respiratory Insufficiency*/therapy
Cross-Sectional Studies ; France ; Humans ; Perception ; Prospective Studies ; Quality of Life
: Czasopismo naukowe

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