Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy

Autor: Moreira, Ana Lucila, Mendonça, Rodrigo Holanda, Polido, Graziela Jorge, Oliveira, Marcos Castello Barbosa, Silva, André Macedo Serafim, Zanoteli, Edmar

Publikováno v: In Ultrasound in Medicine & Biology July 2023 49(7):1569-1574

Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations

Autor: Mendonça, Rodrigo Holanda, Machado, Ligia Maria Sotero, Heise, Carlos Otto, Polido, Graziela Jorge, Matsui, Ciro, Jr, Silva, André Macedo Serafim, Reed, Umbertina Conti, Zanoteli, Edmar

Publikováno v: In Neuromuscular Disorders June 2021 31(6):498-504

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Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital

Autor: STUDART-NETO, Adalberto, GUEDES, Bruno Fukelmann, TUMA, Raphael de Luca e, CAMELO FILHO, Antonio Edvan, KUBOTA, Gabriel Taricani, IEPSEN, Bruno Diógenes, MOREIRA, Gabriela Pantaleão, RODRIGUES, Júlia Chartouni, FERRARI, Maíra Medeiros Honorato, CARRA, Rafael Bernhart, SPERA, Raphael Ribeiro, OKU, Mariana Hiromi Manoel, TERRIM, Sara, LOPES, Cesar Castello Branco, PASSOS NETO, Carlos Eduardo Borges, FIORENTINO, Matheus Dalben, DE SOUZA, Julia Carvalhinho Carlos, BAIMA, José Pedro Soares, DA SILVA, Tomás Fraga Ferreira, MORENO, Cristiane Araujo Martins, SILVA, Andre Macedo Serafim, HEISE, Carlos Otto, MENDONÇA, Rodrigo Holanda, FORTINI, Ida, SMID, Jerusa, ADONI, Tarso, GONÇALVES, Marcia Rubia Rodrigues, PEREIRA, Samira Luisa Apóstolos, PINTO, Lecio Figueira, GOMES, Helio Rodrigues, ZANOTELI, Edmar, BRUCKI, Sonia Maria Dozzi, CONFORTO, Adriana Bastos, CASTRO, Luiz Henrique Martins, NITRINI, Ricardo

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 8, Pages: 494-500, Published: 03 AUG 2020
Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 03 AUG 2020

Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse out

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8a9bf1365d991b81e13af6acebf3d3c0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000800494&lng=en&tlng=en

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Autor: Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S., Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G., Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

Publikováno v: Sampedro Castañeda, M, Zanoteli, E, Scalco, R S, Scaramuzzi, V, Marques Caldas, V, Conti Reed, U, da Silva, A M S, O'Callaghan, B, Phadke, R, Bugiardini, E, Sud, R, McCall, S, Hanna, M G, Poulsen, H, Männikkö, R & Matthews, E 2018, ' A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms ', Brain : a journal of neurology, vol. 141, no. 12, pp. 3308-3318 . https://doi.org/10.1093/brain/awy283
Brain

Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that a de novo mutation in ATP1A2, encoding a Na+/K+-ATPase subunit, gives rise to an inward cation l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1045f7de97d65743533ff8d26a02c2c9
https://pure.au.dk/ws/files/138771007/awy283.pdf