Auflistung Enfermedades Neuromusculares nach Autor "Gupta, Pritam"

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Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey

Gonzalez-Moreno, Juan; Dispenzieri, Angela; Grogan, Martha; Coelho, Teresa; Tournev, Ivailo; Waddington Cruz, Marcia; Wixner, Jonas; Diemberger, Igor; Garcia-Pavia, Pablo; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie; THAOS investigators; Barroso, Fabio Adrián (Springer, 2023-12-20)

Introduction: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods: This study describes the mixed phenotype ...
Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Gentile, Luca; Diemberger, Igor; Plante-Bordeneuve, Violaine; Mazzeo, Anna; Dori, Amir; Luigetti, Marco; Di Paolantonio, Andrea; Dispenzieri, Angela; Grogan, Martha; Waddington Cruz, Marcia; Adams, David; Inamo, Jocelyn; Kristen, Arnt V.; Cirami, Calogero Lino; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie; Barroso, Fabio Adrián (Public Library of Science, 2024-01-19)

Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although ...

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