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ListarEnfermedades Neuromusculares por tema "Amyloid Neuropathies, Familial"

ListarEnfermedades Neuromusculares por tema "Amyloid Neuropathies, Familial"

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  • Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy 
    Coelho, Teresa; Marques, Wilson; Dasgupta, Noel R.; Chao, Chi-Chao; Parman, Yesim; Cavalcante França Jr, Marcondes; Guo, Yuh-Cherng; Wixner, Jonas; Ro, Long-Sun; Calandra, Cristian R.; Kowacs, Pedro A.; Berk, John L.; Obici, Laura; Barroso, Fabio Adrián; Weiler, Markus; Conceição, Isabel; Jung, Shiangtung W.; Buchele, Gustavo; Brambatti, Michela; NEURO-TTRansform Investigators (American Medical Association, 2023-09-28)
    Importance: Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. Objective: To evaluate eplontersen, an investigational ligand-conjugated antisense oligonucleotide, ...
  • Familial Amyloid Polyneuropathy: Impact of Biopsies and Mutations on Diagnostic Considerations (P3.4-033) 
    Gibbons, Christopher; González-Duarte, Alejandra; Barroso, Fabio Adrián; Campagnolo, Marta; Rajan, Sharika; Freeman, Roy (AAN, 2019-05-07)
    Objective: To characterize the symptoms, signs and skin biopsy neuropathological findings in a cohort of individuals with TTR Mutations. Background: Familial amyloid polyneuropathy is due to one of many mutations in the ...
  • Parasympathetic denervation of the heart: an early sign of symptomatic TTR-FAP 
    Barroso, Fabio Adrián; Badeigts, Agustina; Orellana, Lucas Gabriel; Lautre, Andrea Rosana; Lorefice, Fernando (Taylor & Francis, 2019-07-25)
    Autonomic nerves may become involved in Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP), and autonomic dysfunction is considered a red flag for TTR-FAP Although autonomic symptoms are easy to recognize for clinicians, ...

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