Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

Autor: de Albuquerque, Ana Letícia Amorim, Chadanowicz, Júlia Kersting, Bevilacqua, Isabela Possebon, Staub, Ana Lucia Portella, Winckler, Pablo Brea, da Silva, Patricia Zambone, Fagondes, Simone Chaves, Ferrari, Renata Salatti, Trojahn, Claudia Denise de Oliveira, Sacharuk, Viviane Zechlinski, Kowalski, Thayne Woycinck, Donis, Karina Carvalho, Becker, Michele Michelin, Saute, Jonas Alex Morales

Publikováno v: In Jornal de Pediatria July 2024

Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy.

Autor: Albuquerque, Ana Letícia Amorim de, Chadanowicz, Júlia Kersting, Giudicelli, Giovanna Câmara, Staub, Ana Lucia Portella, Weber, Arthur Carpeggiani, Silva, Jordana Miranda De Souza, Becker, Michele Michelin, Kowalski, Thayne Woycinck, Siebert, Marina, Saute, Jonas Alex Morales

Publikováno v: Brain Communications; 2024, Vol. 6 Issue 2, p1-13, 13p

Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy.

Autor: de Albuquerque ALA; Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre 90035-003, Brazil.; Clinical Neurogenetics research group, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Chadanowicz JK; Clinical Neurogenetics research group, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Giudicelli GC; Bioinformatics core, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil.; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre 91501-970, Brazil., Staub ALP; Clinical Neurogenetics research group, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Weber AC; Clinical Neurogenetics research group, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Silva JMS; Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre 90035-003, Brazil., Becker MM; Child Neurology Unit, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Kowalski TW; Bioinformatics core, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil.; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre 91501-970, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil., Siebert M; Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-007, Brazil.; Graduate Program in Gastroenterology and Hepatology, Federal University of Rio Grande do Sul, Porto Alegre 90035-003, Brazil., Saute JAM; Graduate Program in Medicine, Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre 90035-003, Brazil.; Clinical Neurogenetics research group, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-007, Brazil.; Department of Internal Medicine, Federal University of Rio Grande do Sul, Porto Alegre 90035-003, Brazil.

Publikováno v: Brain communications [Brain Commun] 2024 Feb 28; Vol. 6 (2), pp. fcae062. Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).