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Erratum To:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Amalia Sertedaki, Talia Kakourou, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian

Citation: Orphanet Journal of Rare Diseases 2011 6:6

Content type: Erratum Published on: 21 February 2011

The original article was published in Orphanet Journal of Rare Diseases 2010 5:33
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Pluripotent stem cells for pathological modelling of Hutchinson-Gilford Progeria Syndrome (HGPS) and drug discovery

Authors: Xavier Nissan

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O2

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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The Swedish rare disease information database and the Swedish information centre for rare diseases

Authors: Christina Greek-Winald, Birgitta Gustafsson and Lisbeth Högvik

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O27

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Cross-border health care represents a key issue in the field of rare diseases

Authors: Paola Facchin

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O31

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Leveraging existing opportunities for improved Orphan Drug approval in the EU

Authors: Catarina Edfjäll

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A27

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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European Reference Networks: developing a EUCERD opinion

Authors: Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A6

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Authors: Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi and Guoli Tian

Citation: Orphanet Journal of Rare Diseases 2023 18:150

Content type: Correction Published on: 15 June 2023

The original article was published in Orphanet Journal of Rare Diseases 2023 18:102
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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Authors: Lijia Huang, Jodi Warman-Chardon, Melissa T. Carter, Kathie L. Friend, Tracy E. Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman and Kym M. Boycott

Citation: Orphanet Journal of Rare Diseases 2022 17:143

Content type: Correction Published on: 29 March 2022

The original article was published in Orphanet Journal of Rare Diseases 2012 7:67
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Authors: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto and Alessandro P. Burlina

Citation: Orphanet Journal of Rare Diseases 2023 18:44

Content type: Correction Published on: 3 March 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:443
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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

This article is part of a Supplement: Volume 10 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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European Network of Rare Disease Help Lines (ENRDHLs) – caller profile analysis 2013

Authors: Georgi Iskrov and François Houÿez

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O13

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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The impact of a small parental network: how 11q improved research, knowledge, contacts and support

Authors: Annet van Betuw

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O8

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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European Project for Rare Diseases National Plans Development (EUROPLAN)

Authors: Domenica Taruscio and Luciano Vittozzi

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P2

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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3D culture system of muscle precursor cell to reveal mechanosensing defects in nuclear envelope related disorders

Authors: Catherine Coirault

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O4

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Cross-border healthcare? The Polish experience

Authors: Jolanta Sykut-Cegielska

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O29

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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The political empowerment of rare disease patient advocates both at EU and national level

Authors: Terkel Andersen

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A33

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Correction to: Sharing is caring: a call for a new era of rare disease research and development

Authors: Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh and Paul Howard

Citation: Orphanet Journal of Rare Diseases 2023 18:15

Content type: Correction Published on: 23 January 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:389
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Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD)

Authors: Chiara Lanzuolo

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O10

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Emergency guidelines and emergency cards

Authors: Véronique Faucounneau and Ana Rath

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O15

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Genetic testing in Europe: transborder testing is a necessity

Authors: Mariana Jovanovic, Els Dequeker, Lieve Desmet, Michael Morris, Jean-Jacques Cassiman and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P4

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Hypothalamic involvement in premature aging laminopathies

Authors: Claudia Cavadas

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O6

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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The democratic problem in the knowledge society of today: Rare Disorders Denmark’s documentation strategy

Authors: Ane Lind, Lene Jensen and Birthe B Holm

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A35

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe

Authors: Marta Czerniawska and Fred Modell

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P10

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Chromatin dynamics and in vitro biomarkers in laminopathies: an overview

Authors: Giovanna Lattanzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O12

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Reimbursement of orphan drugs: the Pompe and Fabry case in the Netherlands

Authors: Rinke van den Brink

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O17

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Health care cost-containment measures in the context of the economic crisis: impact analysis

Authors: François Houÿez, Ludovic Tessier and Dimitrios Synodinos

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O21

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Cystic Fibrosis in Europe - remote measurement of outcome

Authors: Anil Mehta, Gita Mehta and Milan Macek

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P6

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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New therapeutic approaches to HGPS based on progerin inhibition

Authors: Camilla Pellegrini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O8

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

Authors: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani and Franco Antoniazzi

Citation: Orphanet Journal of Rare Diseases 2022 17:169

Content type: Correction Published on: 19 April 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:83
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Developing a cure for Black Bone Disease

Authors: Nicolas T Sireau

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A37

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info)

Authors: Julia Giehl, Holm Graessner and Olaf Riess

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A41

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials

Authors: Joanne Auld, Michael Rose and Reza Seyedsadjadi

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P12

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Correction to: Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)

Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore

Citation: Orphanet Journal of Rare Diseases 2021 16:320

Content type: Correction Published on: 19 July 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:62
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Correction to: Comprehensive genetic characteristics of dystrophinopathies in China

An amendment to this paper has been published and can be accessed via the original article.

Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao

Citation: Orphanet Journal of Rare Diseases 2021 16:252

Content type: Correction Published on: 2 June 2021

The original article was published in Orphanet Journal of Rare Diseases 2018 13:109
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Altered cytokine profiles in laminopathic patients

Authors: Pia Bernasconi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O14

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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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

This article is part of a Supplement: Volume 10 Supplement 1
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Findacure – the Fundamental Diseases Partnership

Authors: Anthony K Hall and Nicolas T Sireau

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O23

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines

Authors: Pauline McCormack

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P8

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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