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The rehabilitation in the management of Transthyretin Familial Amyloid Polyneuropathy

Authors: Agnès Morier, Alyssa De Sousa, Colombe Lemoine, Cecile Cauquil, Marie Théaudin, David Adams and Hervé Chanut

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P66

Content type: Poster presentation Published on: 2 November 2015

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Specific ocular changes in TTR Met30-FAP after liver transplantation

Authors: Natalia Ferreira, David Dias, Carmen Vilas-Boas, Isabel Fonseca and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P64

Content type: Poster presentation Published on: 2 November 2015

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Retinal and choroidal vascular abnormalities in TTR-FAP

Authors: Antoine Rousseau, Emmanuel Barreau, Céline Terrada, Lydie Bonin, Pierre-Raphaêl Rothschild, Marie Théaudin, David Adams and Marc Labetoulle

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P61

Content type: Poster presentation Published on: 2 November 2015

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Axon reflex-mediated vasodilation is reduced in proportion to disease severity in familial amyloid polyneuropathy

Authors: Thierry Kuntzer, Irène Calero-Romero, Bernard Waeber and Francois Feihl

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P57

Content type: Poster presentation Published on: 2 November 2015

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Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein

Authors: Priscila Ferreira, Carolina Andrade, Ricardo Santanna, Natalia Varejão, Salvado Ventura, Fernando Palhano, Marcia Cruz and Debora Foguel

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P55

Content type: Poster presentation Published on: 2 November 2015

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Spotting senile systemic amyloidosis: why we miss it

Authors: Marianna Fontana, Cristina C Quarta, Janet Gilbertson, Thirusha Lane, Carol J Whelan, Julian D Gillmore, Philip N Hawkins and James C Moon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P51

Content type: Poster presentation Published on: 2 November 2015

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Usefulness of 99mTc-HMDP scintigraphy for the etiologic diagnosis and prognosis of cardiac amyloidosis

Authors: Arnault Galat, Jean Rosso, Aziz Guellich, Axel Van Der Gucht, Jean-Luc Dubois-Randé, Violaine Plante-Bordeneuve, Emmanuel Itti and Thibaud Damy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P49

Content type: Poster presentation Published on: 2 November 2015

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Quantitative comparison between amyloid deposition detected by 99mTc-diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin related cardiac amyloidosis

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Claudia Stancanelli, Luca Gentile, Sergio Baldari, Scipione Carerj and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P47

Content type: Poster presentation Published on: 2 November 2015

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Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: a potentially dangerous association that can be non-invasively identified

Authors: Simone Longhi, Agnese Milandri, Christian Gagliardi, Massimiliano Lorenzini, Francesco Saia, Ornella Leone, Pier Luigi Guidalotti and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P45

Content type: Poster presentation Published on: 2 November 2015

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Comparison of MIBG and Diphosphonate scintigraphy in cardiac involvement of aTTR-FAP

Authors: Renata Chequer, Ludivine Eliahou, Hamza Regaieg, Vincent Algalarrondo, Sylvie Dinanian, Dominique Le Guludec, Michel S Slama and Francois Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P43

Content type: Poster presentation Published on: 2 November 2015

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Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP

Authors: Hamza Regaieg, Renata De Paola Chequer, Rana Ben Azzouna, Vincent Algalarrondo, Besma Mahida, Michel Slama, Dominique Le Guludec and François Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P41

Content type: Poster presentation Published on: 2 November 2015

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Characterization of conformation-specific, human-derived monoclonal antibodies against TTR aggregates with potential for diagnostic and therapeutic use

Authors: Aubin Michalon, Benoit Combaluzier, Evita Varela, Andreas Hagenbuch, Ole Suhr, Maria Saraiva and Jan Grimm

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P39

Content type: Poster presentation Published on: 2 November 2015

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What to do when the neuropathy worsens after successful heart and liver transplantation in a Glu89Lys Transthyretin Amyloidosis?

Authors: Thierry Kuntzer and Francois Ochsner

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P37

Content type: Poster presentation Published on: 2 November 2015

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Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

Authors: Hacer Durmus, Zeliha Matur, Murat Mert Atmaca, Mehves Poda, Arman Cakar, Piraye Serdaroglu-Oflazer, Feza Deymeer and Yesim Parman

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P33

Content type: Poster presentation Published on: 2 November 2015

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Neurophysiological pitfalls in TTR-FAP Val30Met

Authors: Isabel Conceição, Cristiana Silva, Mariana Costa and José Castro

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P31

Content type: Poster presentation Published on: 2 November 2015

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Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease

Authors: Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gallego-Lezaun, Ignacio Ferullo, Tomas Ripoll-Vera, Mercedes Uson-Martín and Hernan Andreu-Serra

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P29

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Psychopathological dimensions in familial amyloid polyneuropathy patients

Authors: Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O27

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Teachings from the French database of TTR familial amyloidotic polyneuropathy (TTR-FAP): large genetic and phenotypic heterogeneity, usefulness of TTR gene testing.

Authors: David Adams, Cecile Cauquil, Clovis Adam, Celie Labeyrie, Guillemette Beaudonnet, Anne Mantel and Marie Theaudin

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P27

Content type: Poster presentation Published on: 2 November 2015

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Familial Amyloid Polyneuropathy treatment with Tafamidis – evaluation of one- and two-year treatment in Porto, Portugal

Authors: Teresa Coelho, Ana Martins da Silva, Cristina Alves, Márcio Cardoso, Cecília Monteiro, Isabel Fonseca, Carla Rodrigues and Vanessa Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O25

Content type: Oral presentation Published on: 2 November 2015

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Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient.

Authors: Marta Lipowska, Dorota Rowczenio, Janet Gilbertson, Philip N Hawkins, Agnieszka Ptasinska-Perkowska and Hanna Drac

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P25

Content type: Poster presentation Published on: 2 November 2015

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Diflunisal therapy for cardiac ATTR amyloidosis: a longitudinal, prospective, single centre study

Authors: Candida C Quarta, Sevda Ozer, Carol J Whelan, Marianna Fontana, Dorota M Rowczenio, Janet A Gilbertson, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O23

Content type: Oral presentation Published on: 2 November 2015

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Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium

Authors: Isabelle Lousada, Raymond L Comenzo, Heather Landau, Spencer Guthrie and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P22

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Heart transplantation in hereditary ATTR amyloidosis

Authors: M Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I22

Content type: Invited speaker presentation Published on: 2 November 2015

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Phase 2, open-label extension (OLE) study of revusiran, an investigational RNAi therapeutic for the treatment of patients with transthyretin cardiac amyloidosis

Authors: Julian D Gillmore, Rodney H Falk, Mathew S Maurer, Mazen Hanna, Verena Karsten, John Vest, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O21

Content type: Oral presentation Published on: 2 November 2015

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FAP in India: a first genetically proven case

Authors: Daniel Pan, Jérôme Bouligand, Anne Guiochon-Mantel and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P20

Content type: Poster presentation Published on: 2 November 2015

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Guidelines for genetic counselling in ATTR amyloidosis

Authors: Jorge Sequeiros

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I20

Content type: Invited speaker presentation Published on: 2 November 2015

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Ocular manifestations of transthyretin-related familial amyloid polyneuropathy

Authors: Antoine Rousseau, Emmanuel Barreau, Julia Meney, Zoia Mincheva, Cécile Cauquil, Marie Théaudin, Marc Labetoulle and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O19

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Does the course of Val122Ile differ from SSA, or is selection bias a factor?

Authors: Hallie Geller, Tara Mirto and Rodney Falk

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P18

Content type: Poster presentation Published on: 2 November 2015

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Cardiologic Phenotypes and Natural History of FAC

Authors: Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I18

Content type: Invited speaker presentation Published on: 2 November 2015

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Familial amyloidotic polyneuropathy associated with the transthyretin CYS 114 gene in a Russian pair of monozygotic twins.

Authors: Igor Srokov Igor, Galina Diukova, Aleksandr Pogromov, Maria Kovalchuk and Eduard Generozov

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P16

Content type: Poster presentation Published on: 2 November 2015

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New tools to diagnose and follow FAC patients: biomarkers

Authors: Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I16

Content type: Invited speaker presentation Published on: 2 November 2015

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Quantitative MR-neurographic parameters can determine and specify nerve injury in amyloid related polyneuropathy

Authors: Jennifer Kollmer, Ernst Hund, Stefan Schönland, Ute Hegenbart, Christoph Kimmich, Arnt Kristen, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O14

Content type: Oral presentation Published on: 2 November 2015

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Emerging CNS involvement in FAP-TTR long survival patients

Authors: Luisa Maia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I14

Content type: Invited speaker presentation Published on: 2 November 2015

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Neurophysiological pitfalls in TTR-FAP Val30Met

Authors: Isabel Conceição, Cristiana Silva, Mariana Costa and José Castro

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O12

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Early intervention with tafamidis provides long-term benefit in delaying neurological progression in patients with transthyretin familial amyloid polyneuropathy

Authors: Marcia Waddington-Cruz, Leslie Amass, Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni and Hui Hua Li

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P12

Content type: Poster presentation Published on: 2 November 2015

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Analysis of disease progression in patients with transthyretin cardiac amyloidosis

Authors: Julian D Gilmore, Mathew S Maurer, John Vest, Verena Karsten, Christine Powell, Andrew Strahs, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O10

Content type: Oral presentation Published on: 2 November 2015

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TUDCA as an autophagic modulator of ATTR V30M Amyloidosis

Authors: Cristina Teixeira and Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P10

Content type: Poster presentation Published on: 2 November 2015

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ATTR-FAP: liver transplantation vs oral medication, how and when

Authors: Bo Goran Erikzon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I8

Content type: Invited speaker presentation Published on: 2 November 2015

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A phase 3 clinical trial with ISIS-TTRRx, a 2nd-generation antisense oligonucleotide targeting transthyretin (TTR), for the treatment of TTR amyloid cardiomyopathy

Authors: Helen Millns, Rito Bergemann, Elizabeth Ackermann, Brett Monia and Mary Ann Lukas

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P8

Content type: Poster presentation Published on: 2 November 2015

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DISCOVERY: a study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis

Authors: Olakunle Akinboboye, Karthik Ananthasubramaniam, Amir Malik, Alberta Warner, Verena Karsten, Thibaud Damy, Herman A Taylor and Mathew S Maurer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O8

Content type: Oral presentation Published on: 2 November 2015

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TTR-FAP: liver transplant vs oral medication. How and when

Authors: Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I6

Content type: Invited speaker presentation Published on: 2 November 2015

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Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area

Authors: Andrea Cortese, Giuseppe Vita, Laura Obici, Marco Sabatelli, Gian Maria Fabrizi, Angelo Schenone, Giampaolo Merlini and Davide Pareyson

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P6

Content type: Poster presentation Published on: 2 November 2015

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Familial amyloidotic polyneuropathy in Crete, Greece

Authors: Minas Tzagournissakis, Cleanthe Spanaki, Georgios Amoiridis, Demetrios Samonakis, Andreas Plaitakis and Panayiotis Mitsias

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O6

Content type: Oral presentation Published on: 2 November 2015

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When to decide to enroll a TTR-FAP patient in a Clinical Trial?

Authors: Juan Buades

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I4

Content type: Invited speaker presentation Published on: 2 November 2015

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Positive real-world effectiveness of tafamidis for delaying disease progression in transthyretin familial amyloid polyneuropathy

Authors: Michelle Stewart, Denis Keohane, Sarah Short, Jose Alvir, Moh-Lim Ong and Rajiv Mundayat

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P4

Content type: Poster presentation Published on: 2 November 2015

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The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

Authors: Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa and Carolina Lemos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O4

Content type: Oral presentation Published on: 2 November 2015

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Neuropathic phenotypes and natural history of FAP

Authors: David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I2

Content type: Invited speaker presentation Published on: 2 November 2015

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Diflunisal compassive use in transthyretin familial amyloidotic polyneuropathy (TTR-FAP): report of the first Spanish experience

Authors: Sebastián E Azorín Contesse, Christopher Cabib and Josep M Campistol

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P2

Content type: Poster presentation Published on: 2 November 2015

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Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria

Authors: Stayko Sarafov, Mariana Gospodinova, Velina Guergueltcheva Velina, Andrei Kirov, Chamova Teodora, Tihomir Todorov, Alebena Todorova and Ivailo Tournev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O2

Content type: Oral presentation Published on: 2 November 2015

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TTR-FAP: a single-center experience in Sicily, an Italian endemic area

Authors: Anna Mazzeo, Massimo Russo, Gianluca Di Bella, Fabio Minutoli, Claudia Stancenelli, Luca Gentile, Antonio Toscano and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O1

Content type: Oral presentation Published on: 2 November 2015

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