Bárbara Andres

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

Cornelia Voigt-Müller, Michelle Pfaffenlehner, Günther Bernert, Hakan Çetin et autres

Real-world treatments for 5q-spinal muscular atrophy (SMA) have evolved rapidly following the sequential approval of three disease-modifying treatments (DMTs): nusinersen, onasemnogene abeparvovec and risdiplam. The aim of this study was to map the sequence and timing of SMA treatments accurately using the …

de, at, ca (code pays fourni par la source)

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens et autres

Importance: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that …

de, us, at, ca (code pays fourni par la source)

Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer et autres

In this article the JEWELFISH Study Group members were missing in the Acknowledgements.The collaborator names are corrected in the supplementary material and the complete list is given below.In Table 1, footnote symbol 'g' was incorrectly written as 'f' in the entries Non-sitters-2 …

us, it, ch, de, pl, gb (code pays fourni par la source)

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer et autres

INTRODUCTION: Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of risdiplam in previously …

us, it, ch, de, pl, gb (code pays fourni par la source)

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni et autres

BACKGROUND: The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data …

de, at, ca (code pays fourni par la source)

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni et autres

5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, …

de, at, ca (code pays fourni par la source)

Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

Anna Mayhew, D. Moat, Michael McDermott, Michelle Eagle et autres

The purpose of this study was to quantitate motor performance in 196 genetically confirmed steroid-naïve boys with Duchenne muscular dystrophy (DMD), to evaluate the test-retest reliability of measures of motor performance in young DMD boys, and to assess correlations among the different …

gb, us, it, ca, de (code pays fourni par la source)

Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression

Arnaud Monseur, Bradley P. Carlin, Bruno Boulanger, Andreea Seferian et autres

fr, be, gb (code pays fourni par la source)

The North Atlantic Treaty: Article 9 and NATO's Institutionalization

Muñoz Mosquera, Bárbara Andres

Vorteil durch frühen Therapiebeginn bei proximaler spinaler Muskelatrophie

H. Koelbel, Andrea Gangfuß, Katrin Rupprich, Bárbara Andres et autres

de (code pays fourni par la source)

VER-SUS Brasil - vivências - estágios no SUS : um dispositivo de qualificação da formação com o foco nas redes de atenção à saúde

Renata Flores Trepte, Alcindo Antônio Ferla, Bárbara Andres, Cristiane Montenegro et autres

O tema da formacao de profissionais e trabalhadores da area da saude e uma questao fundamental para a sustentacao de mudancas na politica de saude visto que ainda consiste em um dos nos criticos da saude brasileira. Compreende-se que os trabalhadores e …

br (code pays fourni par la source)

Contribuição ao estudo do imaginário social contemporâneo: retórica e imagens das biociências em periódicos de divulgação científica

Madel Therezinha Luz, César Sabino, Rafael da Silva Mattos, Alcindo Antônio Ferla et autres

Artigo analítico sobre a retórica das imagens de biociências em periódicos em bancas de jornal, que pretende contribuir para pesquisas empíricas sobre representações sociais dominantes no imaginário contemporâneo, analisando as imagens das capas da mídia impressa sobre vida, saúde e doença. As …

br (code pays fourni par la source)