Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Autor: Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

Abstract We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases were from countries where ATTR-PN is

Externí odkaz: https://doaj.org/article/e31822a8e501426f9a2e61823bc91fb3

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Autor: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington

Publikováno v: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851

The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in lat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74c
http://doc.rero.ch/record/297949/files/dde309.pdf

The natural history of MPS I: global perspectives from the MPS I Registry

Autor: John S. Taylor, Pamela Arn, Roberto Giugliani, Michael Beck, Joseph Muenzer, Torayuki Okuyama, Shari Fallet

Publikováno v: Genetics in Medicine

Purpose: In this study, we aimed to describe the natural history of mucopolysaccharidosis I. Methods: Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c882bcf58f648f736261543767d9a28c
https://doi.org/10.1038/gim.2014.25

Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review

Autor: Michelle Stewart, Marc F. Botteman, John A. Carter, Leslie Amass, Hartmut Schmidt, Avijeet S. Chopra, Márcia Waddington Cruz, Markay Hopps, Shari Fallet

Publikováno v: Amyloid. 24:111-112

Transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) is an irreversible, fatal, and rare autosomal dominant genetic disease characterized by progressive polyneuropathy due to amyloi...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c060e5e0f95eb6c6d3302f7c23685018
https://doi.org/10.1080/13506129.2017.1292903

Global Prevalence Estimates of Transthyretin Familial Amyloid Polyneuropathy (ATTR-FAP): A Systematic Review and Projections

Autor: Marc F. Botteman, Hartmut Schmidt, Michelle Stewart, John A. Carter, Leslie Amass, Márcia Waddington-Cruz, Shari Fallet, Avijeet S. Chopra, Markay Hopps

Publikováno v: Value in Health. 19:A601

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9070720e9c511523e09fc7bac4264039
https://doi.org/10.1016/j.jval.2016.09.1466