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    Wyświetlanie 1-47 z 47
    Tytuł:
    Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany.
    Autorzy:
    Senn KC; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany.
    Thiele S; Department of Neurology, Friedrich Baur Institute, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Kummer K; Department of Neurology, University Medical Center Goettingen, 37075, Göttingen, Germany.
    Walter MC; Department of Neurology, Friedrich Baur Institute, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Nagels KH; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 25; Vol. 18 (1), pp. 337. Date of Electronic Publication: 2023 Oct 25.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Myositis, Inclusion Body*/epidemiology
    Humans ; Aged ; Cross-Sectional Studies ; Germany ; Cost of Illness ; Health Care Costs
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Inclusion body myositis-health-related quality of life and care situation during phases of the "patience journey" in Germany: results from a qualitative study.
    Autorzy:
    Senn KC; University of Bayreuth, Chair of Healthcare Management and Health Services Research, Parsifalstrasse 25, 95445, Bayreuth, Germany. .
    Thiele S; Department of Neurology, Friedrich Baur Institute, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Gumbert L; University of Bayreuth, Chair of Healthcare Management and Health Services Research, Parsifalstrasse 25, 95445, Bayreuth, Germany.; SMA Europe, Im Moos 4, 79112, Freiburg, Germany.
    Krause S; Department of Neurology, Friedrich Baur Institute, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Walter MC; Department of Neurology, Friedrich Baur Institute, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Nagels KH; University of Bayreuth, Chair of Healthcare Management and Health Services Research, Parsifalstrasse 25, 95445, Bayreuth, Germany.
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    Źródło:
    Health and quality of life outcomes [Health Qual Life Outcomes] 2023 Oct 10; Vol. 21 (1), pp. 111. Date of Electronic Publication: 2023 Oct 10.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Quality of Life*/psychology
    Myositis, Inclusion Body*/therapy
    Myositis, Inclusion Body*/diagnosis
    Male ; Humans ; Female ; Qualitative Research ; Social Support ; Adaptation, Psychological
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Patient-Reported Health-Related Quality of Life, Anxiety and Depression in Patients with Inclusion Body Myositis: A Register-Based Cross-Sectional Study in Germany.
    Autorzy:
    Senn KC; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445 Bayreuth, Germany.
    Thiele S; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336 Munich, Germany.
    Kummer K; Department of Neurology, University Medical Center Goettingen, 37075 Goettingen, Germany.
    Walter MC; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Ziemssenstrasse 1, 80336 Munich, Germany.
    Nagels KH; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445 Bayreuth, Germany.
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    Źródło:
    Journal of clinical medicine [J Clin Med] 2023 Jul 31; Vol. 12 (15). Date of Electronic Publication: 2023 Jul 31.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Nuclear Small Dystrophin Isoforms during Muscle Differentiation.
    Autorzy:
    Donandt T; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Todorow V; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Hintze S; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Graupner A; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Schoser B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Walter MC; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
    Meinke P; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, 81377 Munich, Germany.
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    Źródło:
    Life (Basel, Switzerland) [Life (Basel)] 2023 Jun 11; Vol. 13 (6). Date of Electronic Publication: 2023 Jun 11.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.
    Autorzy:
    Leibrock B; University of Saarland, Saarbruecken, Germany.
    Landfeldt E; IQVIA, Stockholm, Sweden.
    Hussong J; Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.
    Huelle T; University of Saarland, Saarbruecken, Germany.
    Mattheus H; Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.
    Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Zemlin M; Department of General Pediatrics and Neonatology, Saarland University Hospital, Homburg, Germany.
    Moehler E; Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.
    Dillman U; Department of Neurology, Saarland University, Homburg/Saar, Germany.
    Abner S; IQVIA, London, UK.
    Flotats-Bastardas M; Department of Neuropaediatrics, Saarland University Hospital, Homburg, Germany. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 21; Vol. 18 (1), pp. 32. Date of Electronic Publication: 2023 Feb 21.
    Typ publikacji:
    Observational Study; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Atrophy, Spinal*
    Humans ; Cross-Sectional Studies ; Patient Care ; Germany ; Registries
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany.
    Autorzy:
    Hiebeler M; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.
    Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.
    Reilich P; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.
    Bernert G; Department of Pediatrics, Klinik Favoriten, Vienna, Austria.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1, 80336, Munich, Germany. maggie.walter@lrz.uni-muenchen.de.
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    Źródło:
    Scientific reports [Sci Rep] 2023 Jan 05; Vol. 13 (1), pp. 179. Date of Electronic Publication: 2023 Jan 05.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Dystrophy, Duchenne*/diagnosis
    Muscular Dystrophy, Duchenne*/drug therapy
    Muscular Dystrophy, Duchenne*/epidemiology
    Humans ; Child, Preschool ; Austria/epidemiology ; Adrenal Cortex Hormones/therapeutic use ; Genetic Testing/methods ; Germany/epidemiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
    Autorzy:
    Pechmann A; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Mathildenstr. 1, Freiburg, Germany. .
    Behrens M; Faculty of Medicine, Institute of Medical Biometry and Statistics, Medical Center - University of Freiburg, Freiburg, Germany.
    Dörnbrack K; Clinical Trials Unit, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
    Tassoni A; Clinical Trials Unit, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
    Wenzel F; Clinical Trials Unit, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.
    Stein S; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Mathildenstr. 1, Freiburg, Germany.
    Vogt S; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Mathildenstr. 1, Freiburg, Germany.
    Zöller D; Faculty of Medicine, Institute of Medical Biometry and Statistics, Medical Center - University of Freiburg, Freiburg, Germany.
    Bernert G; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.
    Hagenacker T; Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.
    Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Bertsche A; University Hospital for Children and Adolescents, Ernst-Heydemann-Straße 8, 18057, Rostock, Germany.
    Vill K; Department of Pediatric Neurology and Developmental Medicine, LMU Center for Children With Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.
    Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
    Baumgartner M; Department of Pediatrics and Adulescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.
    Cordts I; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany.
    Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Krankenhausstrasse 26-30, 4020, Linz, Austria.
    Flotats-Bastardas M; Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany.
    Friese J; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany.
    Günther R; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.
    Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.
    Horber V; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
    Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
    Illsinger S; Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
    Jahnel J; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, LKH Klagenfurt, Medical University of Graz, Graz, Austria.
    Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Köhler C; Abteilung Für Neuropädiatrie Und Sozialpädiatrie, Universitätsklinik Für Kinder- Und Jugendmedizin, St. Josef-Hospital, Ruhr-Universität Bochum, Bochum, Germany.
    Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.
    Müller M; Department of Neuropediatrics, University Children's Hospital Würzburg, Würzburg, Germany.
    von Moers A; Department of Pediatrics Und Neuropediatrics, DRK Kliniken Berlin, Berlin, Germany.
    Schwerin-Nagel A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
    Reihle C; Department for Pediatric Neurology, Center for Child and Adolescent Medicine Olgahospital, Psychosomatic and Pain Medicine, Child Pain Center Baden-Württemberg, Klinikum Stuttgart, Stuttgart, Germany.
    Schlachter K; Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria.
    Schreiber G; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
    Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
    Smitka M; Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
    Steiner E; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University/Hospital, Linz, Austria.
    Trollmann R; Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.
    Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
    Weiß C; Department of Pediatric Neurology and Center for Chronically Sick Children, Charité - University Medicine Berlin, Augustenburger Platz 1, Berlin, Germany.
    Wiegand G; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.
    Wilichowski E; Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Robert-Koch-Straße 40, 37075, Göttingen, Germany.
    Ziegler A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
    Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Mathildenstr. 1, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
    Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Mathildenstr. 1, Freiburg, Germany.
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    Corporate Authors:
    SMArtCARE study group
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 23; Vol. 17 (1), pp. 384. Date of Electronic Publication: 2022 Oct 23.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Spinal Muscular Atrophies of Childhood*/drug therapy
    Muscular Atrophy, Spinal*
    Child ; Humans ; Prospective Studies ; Registries ; Disease Progression ; Upper Extremity
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy.
    Autorzy:
    Donandt T; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Hintze S; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Krause S; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Wolf E; Chair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Schoser B; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Walter MC; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
    Meinke P; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
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    Źródło:
    Life (Basel, Switzerland) [Life (Basel)] 2022 Oct 21; Vol. 12 (10). Date of Electronic Publication: 2022 Oct 21.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review.
    Autorzy:
    Senn KC; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany. .
    Gumbert L; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany.; SMA Europe, Im Moos 4, 79112, Freiburg, Germany.
    Thiele S; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Krause S; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Nagels KH; Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jun 16; Vol. 17 (1), pp. 227. Date of Electronic Publication: 2022 Jun 16.
    Typ publikacji:
    Journal Article; Review; Systematic Review; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mental Disorders*
    Myositis, Inclusion Body*
    Humans ; Mental Health ; Qualitative Research ; Quality of Life/psychology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
    Autorzy:
    Attarian S; Reference Center for Neuromuscular Disorders and ALS, CHU La Timone, Marseille, France. .
    Young P; Department of Neurology, Medical Park Bad Feilnbach, Bad Feilnbach, Germany.
    Brannagan TH; Columbia University Medical Center, The Neurological Institute, New York, USA.
    Adams D; French Reference Center for Rare Peripheral Neuropathies, Service de Neurologie Adulte, APHP, CHU Bicêtre, Le Kremlin Bicêtre, France.
    Van Damme P; Department of Neurology, University Hospitals Leuven, KU, Leuven, Belgium.; Center for Brain & Disease Research, VIB, Leuven, Belgium.
    Thomas FP; Department of Neurology, Hackensack University Medical Center, Hackensack, USA.; Department of Neurology, Saint Louis University School of Medicine, St. Louis, USA.
    Casanovas C; Neuromuscular Unit, Neurology Department, Bellvitge University Hospital, Barcelona, Spain.; Neurometabolic Diseases Group, Bellvitge Research Institute (IDIBELL) and CIBERER, Barcelona, Spain.
    Kafaie J; Department of Neurology, Saint Louis University School of Medicine, St. Louis, USA.
    Tard C; U1171, Centre de référence des maladies neuromusculaires Nord Est Ile de France, Hôpital Salengro CHU de Lille, Lille, France.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Péréon Y; Centre de Référence Maladies Neuromusculaires AOC, Filnemus, Euro-NMD, CHU Nantes, Hôtel-Dieu, Nantes, France.
    Walk D; Clinical Neuroscience Research Unit, University of Minnesota, Minneapolis, USA.
    Stino A; University of Michigan Health System, Ann Arbor, MI, USA.
    de Visser M; Department of Neurology, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
    Verhamme C; Department of Neurology, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
    Amato A; Department of Neurology, Brigham and Women's Hospital, Boston, USA.
    Carter G; St. Luke's Rehabilitation Institute, Physical Medicine and Rehabilitation, Spokane, USA.
    Magy L; CHU Dupuytren, Limoges, France.
    Statland JM; University of Kansas Medical Center, Kansas City, USA.
    Felice K; Department of Neuromuscular Medicine, Hospital for Special Care, New Britain, USA.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 16; Vol. 16 (1), pp. 433. Date of Electronic Publication: 2021 Oct 16.
    Typ publikacji:
    Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Charcot-Marie-Tooth Disease*/drug therapy
    Baclofen ; Double-Blind Method ; Humans ; Naltrexone ; Sorbitol
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
    Autorzy:
    Murphy LB; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
    Schreiber-Katz O; Department of Neurology, Hannover Medical School, Hannover, Germany.
    Rafferty K; Institute of Population Health Sciences, University of Liverpool, Liverpool, UK.
    Robertson A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
    Topf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
    Willis TA; The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
    Heidemann M; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
    Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
    Bindoff L; Department of Neurology, Neuro-SysMed, Haukeland University Hospital, University of Bergen, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
    Laurent JP; LGMD2i Research Fund, Bellevue, Washington.
    Lochmüller H; Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Ottawa, Canada.; The Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
    Mathews K; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa.
    Mitchell C; Astellas Pharma, Tokyo, Japan.
    Stevenson JH; Cure LGMD2i, University of Massachusetts Medical School, Worcester, Massachusetts.
    Vissing J; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
    Woods L; Patient Representative, Stanwood, Washington.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
    Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 May; Vol. 7 (5), pp. 757-766. Date of Electronic Publication: 2020 Apr 28.
    Typ publikacji:
    Journal Article; Observational Study; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Registries*
    Muscular Dystrophies, Limb-Girdle/*genetics
    Pentosyltransferases/*genetics
    Walker-Warburg Syndrome/*genetics
    Adolescent ; Adult ; Age of Onset ; Aged ; Child ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Phenotype ; Walker-Warburg Syndrome/physiopathology ; Young Adult
    SCR Disease Name:
    Muscular Dystrophy, Limb-Girdle, Type 2I
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
    Autorzy:
    König K; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Tassoni A; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
    Müller-Reible C; Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
    Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. .; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jun 24; Vol. 14 (1), pp. 152. Date of Electronic Publication: 2019 Jun 24.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Dystrophy, Duchenne/*epidemiology
    Neuromuscular Diseases/*epidemiology
    Female ; Germany/epidemiology ; Humans ; Incidence ; Male ; Rare Diseases/epidemiology ; Retrospective Studies
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.
    Autorzy:
    Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    König K; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Bernert G; Gottfried von Preyer Children Hospital, Vienna, Austria.
    Schachtrup K; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Schara U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
    Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Schwersenz I; Deutsche Gesellschaft für Muskelkranke e. V., Freiburg, Germany.
    Stein S; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Physiotherapy, Albert-Ludwigs University of Freiburg, Medical Center, Freiburg, Germany.
    Tassoni A; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Vogt S; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Physiotherapy, Albert-Ludwigs University of Freiburg, Medical Center, Freiburg, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital Ottawa Children's, Canada and Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
    Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. .
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jan 21; Vol. 14 (1), pp. 18. Date of Electronic Publication: 2019 Jan 21.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Atrophy, Spinal*
    Austria ; Germany ; Humans ; Multicenter Studies as Topic ; Orphan Drug Production ; Prospective Studies ; Quality of Life ; Rare Diseases ; Registries ; Switzerland
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.
    Autorzy:
    Jasnic-Savovic J; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Krause S; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Ziemssenstr. 1a, 80336, Munich, Germany.
    Savic S; Institute of Forensic Medicine, School of Medicine, University of Belgrade, Deligradska 31a, Belgrade, 11000, Serbia.
    Kojic A; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Kovcic V; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Boskovic S; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Nestorovic A; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Rakicevic L; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Schreiber-Katz O; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Ziemssenstr. 1a, 80336, Munich, Germany.
    Vogel JG; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Ziemssenstr. 1a, 80336, Munich, Germany.
    Schoser BG; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Ziemssenstr. 1a, 80336, Munich, Germany.
    Walter MC; Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Ziemssenstr. 1a, 80336, Munich, Germany.
    Valle G; CRIBI, University of Padova, Via Ugo Bassi 58b, 35121, Padua, Italy.
    Radojkovic D; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.
    Faulkner G; CRIBI, University of Padova, Via Ugo Bassi 58b, 35121, Padua, Italy.
    Kojic S; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia. .
    Pokaż więcej
    Źródło:
    Histochemistry and cell biology [Histochem Cell Biol] 2016 Nov; Vol. 146 (5), pp. 569-584. Date of Electronic Publication: 2016 Jul 08.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Muscle Proteins/*genetics
    Muscle Proteins/*metabolism
    Muscle, Skeletal/*metabolism
    Myocardium/*metabolism
    Nuclear Proteins/*genetics
    Nuclear Proteins/*metabolism
    Repressor Proteins/*genetics
    Repressor Proteins/*metabolism
    Amino Acid Sequence ; Cells, Cultured ; Humans ; Muscle Proteins/analysis ; Muscle Proteins/chemistry ; Muscle, Skeletal/pathology ; Myocardium/pathology ; Nuclear Proteins/analysis ; Nuclear Proteins/chemistry ; Protein Isoforms/analysis ; Protein Isoforms/chemistry ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Repressor Proteins/analysis ; Repressor Proteins/chemistry ; Sequence Alignment
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.
    Autorzy:
    Fröhlich T; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Kemter E; Chair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Flenkenthaler F; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Klymiuk N; Chair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Otte KA; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Blutke A; Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, LMU Munich, Veterinärstr. 13, D-80539 Munich, Germany.
    Krause S; Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Ziemssenstr. 1, D-80336 Munich, Germany.
    Walter MC; Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Ziemssenstr. 1, D-80336 Munich, Germany.
    Wanke R; Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, LMU Munich, Veterinärstr. 13, D-80539 Munich, Germany.
    Wolf E; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.; Chair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Arnold GJ; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
    Pokaż więcej
    Źródło:
    Scientific reports [Sci Rep] 2016 Sep 16; Vol. 6, pp. 33362. Date of Electronic Publication: 2016 Sep 16.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscle, Skeletal/*metabolism
    Muscle, Skeletal/*pathology
    Muscular Dystrophy, Animal/*metabolism
    Muscular Dystrophy, Animal/*pathology
    Proteome/*metabolism
    Aging/pathology ; Animals ; Disease Models, Animal ; Dystrophin/deficiency ; Dystrophin/metabolism ; Immunohistochemistry ; Mitochondrial Proteins/metabolism ; Muscle Fibers, Fast-Twitch ; Muscle Fibers, Slow-Twitch ; Muscle Proteins/metabolism ; Myosin Heavy Chains/metabolism ; Sus scrofa
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Disease burden of spinal muscular atrophy in Germany.
    Autorzy:
    Klug C; Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444, Bayreuth, Germany.
    Schreiber-Katz O; Department of Neurology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.
    Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Schorling E; Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444, Bayreuth, Germany.
    Zowe J; Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444, Bayreuth, Germany.
    Reilich P; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany. maggie.walter@lrz.uni-muenchen.de.
    Nagels KH; Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444, Bayreuth, Germany.
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 May 04; Vol. 11 (1), pp. 58. Date of Electronic Publication: 2016 May 04.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Muscular Atrophy, Spinal/*economics
    Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cost of Illness ; Cross-Sectional Studies ; Female ; Germany ; Health Care Costs/statistics & numerical data ; Humans ; Infant ; Male ; Middle Aged ; Quality of Life ; Surveys and Questionnaires ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
    Autorzy:
    Larsen M; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
    Rost S; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
    El Hajj N; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
    Ferbert A; Department of Neurology, Klinikum Kassel, Kassel, Germany.
    Deschauer M; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle, Germany.
    Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich, Germany.
    Schoser B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich, Germany.
    Tacik P; Department of Neurology, Hannover Medical School, Hannover, Germany.
    Kress W; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
    Müller CR; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
    Pokaż więcej
    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jun; Vol. 23 (6), pp. 808-16. Date of Electronic Publication: 2014 Nov 05.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Codon, Nonsense*
    Genes, Modifier*
    Mutation, Missense*
    Phenotype*
    Chromosomal Proteins, Non-Histone/*genetics
    Muscular Dystrophy, Facioscapulohumeral/*genetics
    Adult ; Child ; DNA Methylation ; Female ; Humans ; Male ; Middle Aged ; Muscular Dystrophy, Facioscapulohumeral/diagnosis ; Tandem Repeat Sequences
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.
    Autorzy:
    Schreiber-Katz O
    Klug C
    Thiele S
    Schorling E
    Zowe J
    Reilich P
    Nagels KH
    Walter MC
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Dec 18; Vol. 9, pp. 210. Date of Electronic Publication: 2014 Dec 18.
    Typ publikacji:
    Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Cost of Illness*
    Health Care Costs*
    Muscular Dystrophy, Duchenne/*economics
    Muscular Dystrophy, Duchenne/*epidemiology
    Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Germany/epidemiology ; Humans ; Infant ; Male ; Muscular Dystrophy, Duchenne/therapy ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
    Autorzy:
    Schreiber O; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstrasse 1, D-80336 Munich, Germany. maggie.walter@lrz.uni-muenchen.de.
    Schneiderat P
    Kress W
    Rautenstrauss B
    Senderek J
    Schoser B
    Walter MC
    Pokaż więcej
    Źródło:
    BMC medical genetics [BMC Med Genet] 2013 Sep 16; Vol. 14, pp. 92. Date of Electronic Publication: 2013 Sep 16.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Charcot-Marie-Tooth Disease/*genetics
    Muscular Dystrophy, Facioscapulohumeral/*genetics
    Charcot-Marie-Tooth Disease/pathology ; Electromyography ; Gene Deletion ; Gene Duplication ; Genetic Loci ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Myelin Proteins/genetics ; Pedigree ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
    Autorzy:
    Stevens E; Dubowitz Neuromuscular Centre, UCL Institute of Child Health/Great Ormond Street Hospital for Children, London, United Kingdom.
    Torelli S
    Feng L
    Phadke R
    Walter MC
    Schneiderat P
    Eddaoudi A
    Sewry CA
    Muntoni F
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2013 Jul 22; Vol. 8 (7), pp. e68958. Date of Electronic Publication: 2013 Jul 22 (Print Publication: 2013).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Flow Cytometry*
    Dystroglycans/*metabolism
    Fibroblasts/*metabolism
    Muscular Dystrophies/*diagnosis
    Muscular Dystrophies/*pathology
    Child ; Glycosylation ; Humans ; Muscular Dystrophies/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    An integrated diagnosis strategy for congenital myopathies.
    Autorzy:
    Böhm J; Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
    Vasli N
    Malfatti E
    Le Gras S
    Feger C
    Jost B
    Monnier N
    Brocard J
    Karasoy H
    Gérard M
    Walter MC
    Reilich P
    Biancalana V
    Kretz C
    Messaddeq N
    Marty I
    Lunardi J
    Romero NB
    Laporte J
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2013 Jun 24; Vol. 8 (6), pp. e67527. Date of Electronic Publication: 2013 Jun 24 (Print Publication: 2013).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Diseases/*congenital
    Muscular Diseases/*diagnosis
    Adult ; Base Sequence ; Biopsy ; DNA Mutational Analysis ; Exome/genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Muscles/pathology ; Muscles/ultrastructure ; Muscular Diseases/genetics ; Mutation/genetics ; Pedigree ; Phenotype ; Sequence Analysis, DNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.
    Autorzy:
    Harafuji N; Center for Genetic Medicine Research, Children's Research Institute, Washington, DC, USA.
    Schneiderat P
    Walter MC
    Chen YW
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Apr 05; Vol. 8, pp. 55. Date of Electronic Publication: 2013 Apr 05.
    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.; Validation Study
    MeSH Terms:
    Up-Regulation*
    MicroRNAs/*genetics
    Muscular Dystrophy, Facioscapulohumeral/*genetics
    Myoblasts/*metabolism
    Cell Line, Transformed ; Chromosomes, Human, Pair 4 ; Gene Expression Profiling ; Humans ; In Situ Hybridization ; Muscle Proteins/genetics ; Muscular Dystrophy, Facioscapulohumeral/pathology ; MyoD Protein/genetics ; Myogenin/genetics ; Repressor Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
    Autorzy:
    Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, Munich 80336, Germany. maggie.walter@lrz.uni-muenchen.de
    Reilich P
    Thiele S
    Schessl J
    Schreiber H
    Reiners K
    Kress W
    Müller-Reible C
    Vorgerd M
    Urban P
    Schrank B
    Deschauer M
    Schlotter-Weigel B
    Kohnen R
    Lochmüller H
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Feb 14; Vol. 8, pp. 26. Date of Electronic Publication: 2013 Feb 14.
    Typ publikacji:
    Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Anti-Inflammatory Agents/*therapeutic use
    Muscular Dystrophies, Limb-Girdle/*drug therapy
    Pregnenediones/*therapeutic use
    Adolescent ; Adult ; Cross-Over Studies ; Double-Blind Method ; Female ; Humans ; Male ; Middle Aged ; Motor Activity ; Muscle Strength ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Placebos ; Quality of Life ; Young Adult
    SCR Disease Name:
    Dysferlinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A new web-based method for automated analysis of muscle histology.
    Autorzy:
    Pertl C; Laboratory of Molecular Myology, Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-Universität München, Germany. />Eblenkamp M
    Pertl A
    Pfeifer S
    Wintermantel E
    Lochmüller H
    Walter MC
    Krause S
    Thirion C
    Pokaż więcej
    Źródło:
    BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2013 Jan 16; Vol. 14, pp. 26. Date of Electronic Publication: 2013 Jan 16.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Image Processing, Computer-Assisted*/standards
    Internet*
    Microscopy, Fluorescence*/standards
    Immunohistochemistry/*methods
    Muscle Fibers, Skeletal/*pathology
    Muscular Dystrophy, Duchenne/*pathology
    Animals ; Automation, Laboratory ; Biomarkers/analysis ; Bisbenzimidazole ; Cell Size ; Disease Models, Animal ; Fluorescent Dyes ; Immunohistochemistry/standards ; Male ; Mice ; Mice, Inbred mdx ; Muscle Fibers, Skeletal/chemistry ; Muscular Dystrophy, Duchenne/metabolism ; Myosin Heavy Chains/analysis ; Wheat Germ Agglutinins
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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