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ListarEnfermedades Neuromusculares por tema "Neuropatías Amiloides Familiares"

ListarEnfermedades Neuromusculares por tema "Neuropatías Amiloides Familiares"

Ordenar por:Orden:Resultados:

  • A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Gentile, Luca; Coelho, Teresa; Dispenzieri, Angela; Conceição, Isabel; Waddington-Cruz, Márcia; Kristen, Arnt; Wixner, Jonas; Diemberger, Igor; Gonzalez-Moreno, Juan; Cariou, Eve; Maurer, Mathew S.; Planté-Bordeneuve, Violaine; Garcia-Pavia, Pablo; Tournev, Ivailo; Gonzalez-Costello, Jose; Gonzalez Duarte, Alejandra; Grogan, Martha; Mazzeo, Anna; THAOS investigators; Barroso, Fabio Adrián (BioMed Central, 2023-11-10)
    Background: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils ...
  • 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 ...

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