Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1 H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.

Autor: Saffari, Afshin¹ (AUTHOR) stefan.koelker@med.uni-heidelberg.de, Niesert, Moritz² (AUTHOR) georg.hoffmann@med.uni-heidelberg.de, Cannet, Claire³ (AUTHOR), Blaschek, Astrid⁴ (AUTHOR) astrid.blaschek@med.uni-muenchen.de, Hahn, Andreas⁵ (AUTHOR) andreas.hahn@paediat.med.uni-giessen.de, Johannsen, Jessika⁶ (AUTHOR) j.johannsen@uke.de, Kockaya, Musa⁷ (AUTHOR) dr.kockaya@web.de, Kölbel, Heike⁸ (AUTHOR) heike.koelbel@uk-essen.de, Hoffmann, Georg F.² (AUTHOR), Claus, Peter^9,10,11 (AUTHOR), Kölker, Stefan¹ (AUTHOR) friedrich.trefz@metabolic-consulting.de, Müller-Felber, Wolfgang⁴ (AUTHOR) wolfgang.mueller-felber@med.uni-muenchen.de, Roos, Andreas⁸ (AUTHOR) andreas.roos@uk-essen.de, Schara-Schmidt, Ulrike⁸ (AUTHOR) ulrike.schara-schmidt@uk-essen.de, Trefz, Friedrich K.¹ (AUTHOR) juergen.okun@med.uni-heidelberg.de, Vill, Katharina⁴ (AUTHOR) katharina.vill@med.uni-muenchen.de, Wick, Wolfgang¹² (AUTHOR) wolfgang.wick@med.uni-heidelberg.de, Weiler, Markus¹² (AUTHOR) markus.weiler@med.uni-heidelberg.de, Okun, Jürgen G.¹ (AUTHOR), Ziegler, Andreas^1,13 (AUTHOR) andreas.ziegler@med.uni-heidelberg.de

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12123. 19p.

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Autor: Michele Michelin Becker, Flávia Nardes, Tamara Dangouloff, Laurent Servais, Alexandra Prufer de Queiroz Campos Araujo, Juliana Gurgel-Giannetti

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 10, Pp 001-009 (2024)

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many

Externí odkaz: https://doaj.org/article/579c5df870ed412bacbd30390a2a1a21

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Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol

Autor: Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca

Publikováno v: Einstein (São Paulo), Vol 22 (2024)

ABSTRACT Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and max

Externí odkaz: https://doaj.org/article/9f074f89d2284970894261c1f052f3f3

Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1–3

Autor: Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Hui Jiao, Maoti Wei, Xiushan Ge, Fang Song, Yujin Qu

Publikováno v: Frontiers in Neurology, Vol 15 (2024)

Externí odkaz: https://doaj.org/article/c29c24054d1445d3bb2f72bbd6cc5729