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Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F, Luzuriaga GDCJ, da Fonseca GWP, Correia EB, Carvalho AAS, Macedo AVS, Coelho-Filho OR, Scheinberg P, Antunes MO, Schwartzmann PV, Mangini S, Marques W, Simões MV. Fernandes F, et al. Among authors: marques w. Orphanet J Rare Dis. 2024 Jul 20;19(1):273. doi: 10.1186/s13023-024-03281-z. Orphanet J Rare Dis. 2024. PMID: 39033298 Free PMC article.
Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.
Lobo CC, Wertheimer GSO, Schmitt GS, Matos PCAAP, Rezende TJR, Silva JM, Borba FC, Lima FD, Martinez ARM, Barsottini OGP, Pedroso JL, Marques W Jr, França MC Jr. Lobo CC, et al. Among authors: marques w jr. Mov Disord Clin Pract. 2024 Jan;11(1):45-52. doi: 10.1002/mdc3.13930. Epub 2023 Nov 29. Mov Disord Clin Pract. 2024. PMID: 38291837
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: marques w jr. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 Free PMC article. Review.
Leprous neuropathy.
Marques W. Marques W. Curr Opin Neurol. 2024 Oct 1;37(5):487-492. doi: 10.1097/WCO.0000000000001304. Epub 2024 Jul 25. Curr Opin Neurol. 2024. PMID: 39051539 Review.
Nigrostriatal dysfunction in RFC1-related disorder/CANVAS.
Azevedo MPC, Lobo CC, Schmitt GS, Matos PCAAP, Barsottini OGP, Pedroso JL, Marques W Jr, Souza JP, Amorim BJ, França MC Jr. Azevedo MPC, et al. Among authors: marques w jr. Parkinsonism Relat Disord. 2023 Oct;115:105854. doi: 10.1016/j.parkreldis.2023.105854. Epub 2023 Sep 12. Parkinsonism Relat Disord. 2023. PMID: 37729670
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Männikkö R, Pitceathly RDS, Sobreira CFDR, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Marques W. Frezatti RSS, et al. Among authors: marques w. Brain Commun. 2024 Nov 14;6(6):fcae342. doi: 10.1093/braincomms/fcae342. eCollection 2024. Brain Commun. 2024. PMID: 39544699 Free PMC article.
193 results