Aurore Daron

Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges

Nicolas Deltour, Seung Yeon Lee, Elizabeth M. Garry, Liza R. Gibbs et autres

Abstract Background Spinal muscular atrophy (SMA), a rare neurodegenerative disorder with an estimated prevalence of 1 in 14,300 live births and is the leading genetic cause of mortality in infants and children. Since the approval of new disease-modifying treatments (DMTs; nusinersen (Spinraza) …

es, gb, us, pt, ca, de, be, cz, se, nz, it (code pays fourni par la source)

177PLongitudinal stride-level evaluation of ambulatory function with ankle wearable technology in ambulant DMD patients below 4 years old

M. Poleur, G. Parinello, Eva Vrščaj, Cécile Bisson et autres

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

540POverview of the Belgian neuromuscular diseases registry: more than a decade of data

Marlène Jagut, N. De Meulemeester, Jonathan Baets, Diane Beysen et autres

be (code pays fourni par la source)

Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium

Charlotte Mouraux, Tamara Dangouloff, Margaux Poleur, Laurane Mackels et autres

BACKGROUND: Patients with neuromuscular diseases (NMD) have undergone considerable technological progress in terms of diagnosis and treatment over the past few years. Specifically, next-generation sequencing (NGS) has significantly expanded genetic diagnosis. Despite this, some patients remain undiagnosed and therefore without access to …

be, gb (code pays fourni par la source)

Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial

Thomas O. Crawford, Eugenio Maria Mercuri, Heike Kölbel, Nancy L. Kuntz et autres

us, gb, it, fr, be, nl, de (code pays fourni par la source)

Population-based, first-tier genomic newborn screening in the maternity ward

François Boemer, Kristine Hovhannesyan, Flávia Balbo Piazzon, Frédéric Minner et autres

The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of …

be, gb (code pays fourni par la source)

14P X-linked myotubular myopathy: 3-year follow-up of a prospective international natural history

A. Seferian, M. Annoussamy, Frédéric Fer, C. Lilien et autres

fr, gb, de, it, be, es, mq (code pays fourni par la source)

400P Longitudinal evaluation of ambulatory function with ankle wearable technology in ambulant DMD

M. Poleur, G. Parinello, Eva Vrščaj, M. Kumhera et autres

be, fr, si, cz, pl, ro, hu, Égypte, ch, gb (code pays fourni par la source)

Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium

Tamara Dangouloff, Praveen Thokala, Nicolas Deconinck, Adele D’Amico et autres

be, gb, it, nl (code pays fourni par la source)

P86 Longitudinal multi-centric study to assess the digital outcomes issued from wearable magneto-inertial devices in ambulant DMD

Eva Vrščaj, Markéta Jílková, K. Aragon-Gawinska, Cristina Anghelescu et autres

si, cz, pl, ro, us, be, hu, Égypte, ch, fr, gb (code pays fourni par la source)

Case report of cerebral cystic echinococcosis in a 5-year-old child

Denis Menschaert, Aurore Daron, Julie Frère

Cystic echinococcosis is a zoonosis caused by the larval form of the tapeworm Echinococcus granulosus. It has a worldwide distribution and represents a particularly significant economic and health burden in endemic areas. The most affected organs are the liver and the lungs. …

be (code pays fourni par la source)

Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect

Dominique Vincent-Genod, Pascal Rippert, Justine Coton, Laure Le Goff et autres

PURPOSE: Assess the ability of the Kinect to capture movement and posture of people with spinal muscular atrophy (SMA) during completion of 14 items of the Motor Function Measure, a validated functional rating scale for people with neuromuscular diseases. METHODS: Multicenter feasibility …

fr, be (code pays fourni par la source)