المؤلفون: McCormack, P, Woods, S, Aartsma-Rus, A, Hagger, L, Herczegfalvi, A, Heslop, E, Irwin, J, Kirschner, J, Moeschen, P, Muntoni, F, Ouillade, MC, Rahbek, J, Rehmann-Sutter, C, Rouault, F, Sejersen, T, Vroom, E, Straub, V, Bushby, K, Ferlini, A

المصدر: PLoS currents. 5

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:223330068

المؤلفون: Aartsma-Rus, A, Furlong, P, Vroom, E, van Ommen, GJ, Niks, E, Straathof, C, Verschuuren, J, Hagger, L, Heslop, E, Karcagi, V, Kirschner, J, Ouillade, MC, Rahbeck, J, Rehmann-Sutter, C, Rouault, F, Sejersen, T, Woods, S

المصدر: NEUROMUSCULAR DISORDERS. 21(7):527-528

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123091109

المؤلفون: Abiusi E; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy, Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Bertini ES; Research Unit of Neuromuscular Disease, Bambino Gesu’ Children's Hospital, IRCCS, Roma, Italy, Tiziano FD; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy; Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Abiusi E; Section of Genomic Medicine, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, Roma, Italy, Baranello G; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK, Bertini E; Italy, Research Unit of Neuromuscular Disease, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy, Boemer F; Biochemical Genetics Lab, Department of Human Genetics, University Hospital, University of Liège, 4000 Liège, Belgium, Burghes A; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA, Codina-Solà M; Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium, Costa-Roger M; Department of Neurology & Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands, Dangouloff T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland, Groen E; Department of Neurology, Medical University of Warsaw, Warsaw, Poland, Gos M; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany, Jędrzejowska M; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands, Kirschner J; Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany, Lemmink HH; AFM Téléthon, Évry, France; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy, Müller-Felber W; Pediatric Neuromuscular Unit (NEIDF Reference Center at FILNEMUS & Euro-NMD), Child Neurology Department, Raymond Poincaré Hospital (UVSQ), APHP Université Paris Saclay, Garches France, Ouillade MC; Fundacja SMA, Warsaw, Poland; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy, Quijano-Roy S; Univ Rouen Normandie, Inserm U1245, Normandie Univ and CHU Rouen, Department of Genetics and Nord/Est/Ile de France Neuromuscular Reference Center, F-76000 Rouen, France, Rucinski K; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Saugier-Veber P; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany, Tiziano FD; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Wirth B; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany

مؤلفون مشاركون: SMN2 Study group

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 114-122. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Congress

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Atrophy, Spinal*/diagnosis , Muscular Atrophy, Spinal*/genetics , Survival of Motor Neuron 2 Protein*/genetics, Humans ; Biomarkers/analysis ; Consensus Development Conferences as Topic ; Gene Dosage ; Prognosis

المؤلفون: Gusset N; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; SMA Schweiz, Alpenstrasse 76, CH - 3627 Heimberg, Switzerland. Electronic address: nicole.gusset@sma-europe.eu., Stalens C; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France., Stumpe E; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; Deutsche Gesellschaft für Muskelkranke, Im Moos 4, 79112 Freiburg, Germany., Klouvi L; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France., Mejat A; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France., Ouillade MC; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France., de Lemus M; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; FundAME, Calle Antonio Miró Valverde, 5°G, 28055 Madrid, Spain.

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 419-430. Date of Electronic Publication: 2021 Feb 04.

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

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Patient Preference*, Muscular Atrophy, Spinal/*psychology, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Europe ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Muscular Atrophy, Spinal/therapy ; Quality of Life ; Severity of Illness Index ; Surveys and Questionnaires ; Young Adult

المؤلفون: Horgan D; European Alliance for Personalised Medicine, Brussels, Belgium., Metspalu A; Estonian Genome Center of the University of Tartu, Tartu, Estonia., Ouillade MC; French Muscular Dystrophy Association (AFM), Evry, France., Athanasiou D; World Duchenne Organization, Veenendaal, The Netherlands., Pasi J; Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Adjali O; Universite de Nantes, Nantes, France., Harrison P; University College Cork, Cork, Ireland., Hermans C; Université Catholique de Louvain, Louvain, Belgium., Codacci-Pisanelli G; Università La Sapienza, Rome, Italy., Koeva J; Bulgarian Alliance for Personalised and Precision Medicine, Sofia, Bulgaria., Szucs T; University of Basel, Basel, Switzerland., Cursaru V; Myeloma Euronet Romania, Bucharest, Romania., Belina I; KUZ - Coalition of Association in Healthcare, Zagreb, Croatia., Bernini C; European Alliance for Personalised Medicine, Brussels, Belgium., Zhuang S; F.Hoffmann - La Roche AG, Basel, Switzerland., McMahon S; Irish Patients Association, Dublin, Ireland., Toncheva D; Bulgarian Society for Genetics and Human Genomics, Sofia, Bulgaria., Thum T; Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany.

المصدر: Biomedicine hub [Biomed Hub] 2020 Dec 03; Vol. 5 (3), pp. 130-152. Date of Electronic Publication: 2020 Dec 03 (Print Publication: 2020).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101692630 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-6870 (Electronic) Linking ISSN: 22966870 NLM ISO Abbreviation: Biomed Hub Subsets: PubMed not MEDLINE

عنوان ترانسليتريتد: Le patient-expert - Un nouvel acteur clé du système de santé.

المؤلفون: Friconneau M; Groupe Myasthénie, AFM-Téléthon, Évry, France., Archer A; Groupe Myasthénie, AFM-Téléthon, Évry, France., Malaterre J; Groupe Duchenne Becker, AFM-Téléthon, Évry, France., Salama F; Groupe Duchenne Becker, AFM-Téléthon, Évry, France., Ouillade MC; Groupe SMA, AFM-Téléthon, Évry, France.

المصدر: Medecine sciences : M/S [Med Sci (Paris)] 2020 Dec; Vol. 36 Hors série n° 2, pp. 62-64. Date of Electronic Publication: 2021 Jan 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381 (Electronic) Linking ISSN: 07670974 NLM ISO Abbreviation: Med Sci (Paris) Subsets: MEDLINE

مواضيع طبية MeSH: Delivery of Health Care*/organization & administration , Delivery of Health Care*/standards , Delivery of Health Care*/trends , Expert Testimony* , Patient Participation*, Clinical Competence ; France ; Humans ; Patient Advocacy/education ; Patient Advocacy/psychology ; Patient Advocacy/standards ; Patient-Centered Care/organization & administration ; Patient-Centered Care/standards ; Patient-Centered Care/trends ; Self Concept

المؤلفون: Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University ofFreiburg, Faculty of Medicine, Freiburg, Germany., Evans D; Data Science - Personalized HealthCare, F. Hoffmann-La Roche, Basel, Switzerland., Farwell W; Biogen, Cambridge, MA, USA., Finkel R; Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, USA., Goemans N; Department of Pediatrics and Child Neurology, University Hospitals Leuven, Leuven, Belgium., de Lemus M; Fundación Atrofia Muscular Espinal, FundAME, Madrid, Spain.; SMA Europe, Chipping Campden, UK., Matyushenko V; Children withSpinal Muscular Atropy, Charitable Foundation, Kharkiv, Ukraine.; SMA Europe, Chipping Campden, UK., Muntoni F; University College LondonGreat Ormond Institute of Child Health, London, UK; and NIHR Great Ormond Street Hospital Biomedical Research Centre, London UK., Ouillade MC; AFM-Telethon, Evry, Ile-de-France, France.; SMA Europe, Chipping Campden, UK., Schwersenz I; Deutsche Gesellschaft für Muskelkranke e.V., Freiburg, Germany.; SMA Europe, Chipping Campden, UK., Wilson P; Health Connect Partners, Brussels, Belgium.

المصدر: Journal of neuromuscular diseases [J Neuromuscul Dis] 2018; Vol. 5 (2), pp. 131-133.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Print ISSN: 2214-3599 (Print) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Biomedical Research* , Information Dissemination* , Registries*, Rare Diseases/*therapy , Spinal Muscular Atrophies of Childhood/*therapy, Community Participation ; Family ; Humans ; Outcome Assessment, Health Care