Search Results - "Rahbek, Jes"

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia by Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns

“…ABSTRACT Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are…”
Get full text

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies by Wang, Ching H., Bonnemann, Carsten G., Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M., Schara, Ulrike, Schuler, Pamela M., Wahbi, Karim, Aloysius, Annie, Bash, Robert O., Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D., Connolly, Anne M., Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T., Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L., Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard

“…Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the…”
Get full text

Labour market participation and sick leave among patients diagnosed with myasthenia gravis in Denmark 1997-2011: a Danish nationwide cohort study by Frost, Asger, Svendsen, Marie Louise, Rahbek, Jes, Stapelfeldt, Christina Malmose, Nielsen, Claus Vinther, Lund, Thomas

“…To examine labour market participation and long-term sick leave following a diagnosis with myasthenia gravis (MG) compared with the general Danish population…”
Get full text

Parents’ Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey by Beernaert, Kim, Lövgren, Malin, Jeppesen, Jørgen, Werlauff, Ulla, Rahbek, Jes, Sejersen, Thomas, Kreicbergs, Ulrika

“…Objective: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and…”
Get full text

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014 by Rahbek, Jes, Steffensen, Birgit F, Bushby, Kate, de Groot, Imelda J.M

“…Highlights • Paradigm shift – seeing DMD as a childhood onset chronic disease. • Lack of knowledge outside specialized centres on the basic areas of care. • In…”
Get full text

Parents’ advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups by Hjorth, Elin, Kreicbergs, Ulrika, Sejersen, Thomas, Werlauff, Ulla, Rahbek, Jes, Lövgren, Malin

“…Being a parent of a child with spinal muscular atrophy (SMA), a disease that causes progressive muscle weakness, involves a range of challenges. The purpose of…”
Get full text

Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved by Hjorth, Elin, Kreicbergs, Ulrika, Sejersen, Thomas, Jeppesen, Jørgen, Werlauff, Ulla, Rahbek, Jes, Lövgren, Malin

“…Background and aims: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory…”
Get full text

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries by Otto, Christiane, Steffensen, Birgit F., Højberg, Ann-Lisbeth, Barkmann, Claus, Rahbek, Jes, Ravens-Sieberer, Ulrike, Mahoney, Annette, Vry, Julia, Gramsch, Kathrin, Thompson, Rachel, Rodger, Sunil, Bushby, Kate, Lochmüller, Hanns, Kirschner, Janbernd

“…Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in…”
Get full text

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences by Vry, Julia, Gramsch, Kathrin, Rodger, Sunil, Thompson, Rachel, Steffensen, Birgit F, Rahbek, Jes, Doerken, Sam, Tassoni, Adrian, Beytía, María de Los Angeles, Guergueltcheva, Velina, Chamova, Teodora, Tournev, Ivailo, Kostera-Pruszczyk, Anna, Kaminska, Anna, Lusakowska, Anna, Mrazova, Lenka, Pavlovska, Lenka, Strenkova, Jana, Vondráček, Petr, Garami, Marta, Karcagi, Veronika, Herczegfalvi, Ágnes, Bushby, Katherine, Lochmüller, Hanns, Kirschner, Janbernd

“…Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD…”
Get more information

"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease by Ambrosini, Anna, Quinlivan, Ros, Sansone, Valeria A, Meijer, Ingeborg, Schrijvers, Guus, Tibben, Aad, Padberg, George, de Wit, Maarten, Sterrenburg, Ellen, Mejat, Alexandre, Breukel, Alexandra, Rataj, Michal, Lochmüller, Hanns, Willmann, Raffaella

“…Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients' real needs…”
Get full text

Living and ageing with spinal muscular atrophy type 2: Observations among an unexplored patient population by Jeppesen, Joergen, Madsen, Anny, Marquardt, John, Rahbek, Jes

“…Objective: To study conditions of living, participation and diagnostic perceptions in a national population of adult persons with spinal muscular atrophy type…”
Get full text

How Narrative Journalistic Stories Can Communicate the Individual’s Challenges of Daily Living with Amyotrophic Lateral Sclerosis by Jeppesen, Jørgen, Rahbek, Jes, Gredal, Ole, Hansen, Helle Ploug

“…Background To complement the clinical and therapeutic knowledge about the symptoms, prognosis, and social implications of amyotrophic lateral sclerosis (ALS),…”
Get full text

184th ENMC International Workshop: pain and fatigue in neuromuscular disorders: 20-22 May 2011, Naarden, The Netherlands by de Groot, Imelda J M, Voet, Nicoline B M, van Middendorp, Henriët, Knoop, Hans J A, Rahbek, Jes, van Engelen, Baziel G M

Get full text

The European NeuroMuscular Centre (ENMC): 20 years on by van Engelen, Baziel, MD PhD, Zollinger, Daniel, PhD, Pohlschmidt, Marita, PhD, Ambrosini, Anna, MD, Rahbek, Jes

Get full text

184th ENMC international workshop: Pain and fatigue in neuromuscular disorders by de Groot, Imelda J.M, Voet, Nicoline B.M, van Middendorp, Henriët, Knoop, Hans (J) A, Rahbek, Jes, van Engelen, Baziel G.M

Get full text

Adult life with Duchenne muscular dystrophy: Observations among an emerging and unforeseen patient population by Rahbek, Jes, Werge, Birgit, Madsen, Anny, Marquardt, John, Steffensen, Birgit Fynbo, Jeppesen, Joergen

“…The knowledge of adult life with Duchenne muscular dystrophy (DMD) is sparse. The purpose of this study was to review existing information and describe body…”
Get full text

Journalistic narrative can complement health professional understanding in rehabilitation by Jeppesen, Jørgen, Gredal, Ole, Rahbek, Jes, Hansen, Helle Ploug

“…Narrative journalism was used to convey subjective patient perspectives in a study of multidisciplinary rehabilitation of six people with amyotrophic lateral…”
Get more information

Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study by Steffensen, Birgit F, Lyager, Søren, Werge, Birgit, Rahbek, Jes, Mattsson, Eva

“…The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne…”
Get full text

FRACTURE RISK IN PATIENTS WITH MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY by Vestergaard, Peter, Glerup, Henning, Steffensen, Birgit F., Rejnmark, Lars, Rahbek, Jes, Mosekilde, Leif

Get full text

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational by McCormack, Pauline, Woods, Simon, Aartsma-Rus, Annemieke, Hagger, Lynn, Herczegfalvi, Agnes, Heslop, Emma, Irwin, Joseph, Kirschner, Janbernd, Moeschen, Patrick, Muntoni, Francesco, Ouillade, Marie-Christine, Rahbek, Jes, Rehmann-Sutter, Christoph, Rouault, Francoise, Sejersen, Thomas, Vroom, Elizabeth, Straub, Volker, Bushby, Kate, Ferlini, Alessandra

“…Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and…”
Get full text