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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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Erratum to: Disease and patient characteristics in NP-C patients: findings from an international disease registry

Authors: Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier and Mercé Pineda

Citation: Orphanet Journal of Rare Diseases 2013 8:73

Content type: Erratum Published on: 14 May 2013

The original article was published in Orphanet Journal of Rare Diseases 2013 8:12
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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

This article is part of a Supplement: Volume 10 Supplement 1
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Patient perspective on CT Involvement: are they listening to my needs?

Authors: Ulrike Pypops

Citation: Orphanet Journal of Rare Disseases 2012 7(Suppl 2):A39

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: RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

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

Authors: Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, Leopoldo Trieste, Isotta Triulzi, Enrique Terol, Anna Bucher and Giuseppe Turchetti

Citation: Orphanet Journal of Rare Diseases 2021 16:146

Content type: Correction Published on: 22 March 2021

The original article was published in Orphanet Journal of Rare Diseases 2020 15:347
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Social profiles - a dialogue tool

Authors: Lene Jensen and Birthe Byskov Holm

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P14

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Authors: Saida Ortolano

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O20

Content type: Oral presentation Published on: 11 November 2015

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

This article is part of a Supplement: Volume 10 Supplement 1
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Correction to: A Germany-wide survey study on the patient journey of patients with hereditary angioedema

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

Authors: Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann and Christoph Ohlmeier

Citation: Orphanet Journal of Rare Diseases 2021 16:97

Content type: Correction Published on: 22 February 2021

The original article was published in Orphanet Journal of Rare Diseases 2020 15:221
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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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A "Family Project" to fight Usher, a rare disease leading to deaf-blindness

Authors: Steffen Suchert

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O10

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

Authors: Peter N Robinson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A10

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: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann

Citation: Orphanet Journal of Rare Diseases 2021 16:397

Content type: Correction Published on: 27 September 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:295
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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

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

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

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

This article is part of a Supplement: Volume 10 Supplement 1
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European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Authors: Jean-Charles Deybach, Samantha Parker, Mike Badmiton and Sverre Sandberg

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P16

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy

Authors: Esma Ziat and Anne T Bertrand

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O18

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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The nuclear lamina during human spermiogenesis

Authors: Michael Mitchell

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O22

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

Authors: Tomas Pika, Pavla Latalova, Helena Hulkova, Patrik Flodr, Vladimir Mejzlik and Vlastimil Scudla

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P24

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 Epidermolysis bullosa house in Salzburg

Authors: Gabriela Pohla-Gubo

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O12

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Correction to: Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones

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

Authors: Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule and John C. Lieske

Citation: Orphanet Journal of Rare Diseases 2021 16:91

Content type: Correction Published on: 18 February 2021

The original article was published in Orphanet Journal of Rare Diseases 2020 15:319
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Managed entry agreements

Authors: Luisa AA Muscolo, Claudia Bernardini, Paolo D Siviero, Simona Montilla and Luca Pani

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O27

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Professional clinical guidelines for rare diseases: methodology

Authors: Odile Kremp, Patrice Dosquet and Ana Rath

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A12

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Rare diseases and disabilities: improving the information available with three Orphanet projects

Authors: Myriam de Chalendar, Marie Daniel, Annie Olry and Ana Rath

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O31

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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DPD Scintigraphy for diagnosis of amyloidosis in 1191 patients– a single centre experience

Authors: David Hutt, Helen Mcphillips, Stephanie Mcknight, Julian Gillmore, Carol Whelan, Helen Lachmann, Ashutosh Wechalekar and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O16

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Perspective having a Centre of Expertise that covers more than one rare disease

Authors: John R Ostergaard

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O2

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Minimal assessment of index cases: the point of view of the neurologist

Authors: Ernst Hund

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I11

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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Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Authors: Mariana Gospodinova, Stayko Sarafov, Velina Guergueltcheva, Andrey Kirov, Teodora Chamova, Albena Todorova, Ivailo Tournev and Stefan Denchev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P59

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients

Authors: Natalia Ferreira, David Dias and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P63

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population

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

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O3

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Evidence-based information guides to rare chromosome disorders for families and professionals

Authors: Beverly Searle, Prisca Middlemiss, Sarah Wynn and Maj Hulten

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P18

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Authors: Cornelia Zeidler, Gusal Pracht, Manuela Germeshausen and Karl Welte

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P22

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Management of congenital muscular dystrophies related to defects in the LMNA gene

Authors: Susana Quijano-Roy and Adele D'Amico

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O24

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers

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):P30

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Authors: Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day and Pamela Griffiths

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O14

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019

Authors: Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson and Jacinda B. Sampson

Citation: Orphanet Journal of Rare Diseases 2022 17:260

Content type: Correction Published on: 11 July 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:79
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Identifying specific social challenges of rare diseases: current challenges and issues

Authors: Dorica Dan and Raquel Castro

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O29

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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How reference networks develop, implement, and monitor guidelines

Authors: Jan Kirschner, Sunil Rodger, Julia Vry, Kathrin Gramsch, Hanns Lochmüller and Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A14

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Patient innovation under rare diseases and chronic needs

Authors: Pedro Oliveira, Leid Zejnilovic, Helena Canhão and Eric von Hippel

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O33

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants

Authors: Sebastiaan Klaassen, Jasper Tromp, Bouke Hazenberg, Dirk-Jan Van Veldhuisen, Maarten Van Den Berg and Peter Van Der Meer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O18

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Evaluation of Centres: the French experience since 2009

Authors: S Sarnacki

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O4

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Do we need to demonstrate Amyloid in tissue?

Authors: Laurent Magy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I13

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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Management of stage 1 TTR FAP: French experience

Authors: David Adams, Marie Théaudin, Pierre Lozeron, Clovis Adam, Guillemette Beaudonnet, Céline Labeyrie, Catherine Lacroix and Cécile Cauquil

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P65

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: Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Authors: Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin and Ying Fu

Citation: Orphanet Journal of Rare Diseases 2021 16:451

Content type: Correction Published on: 27 October 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:391
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Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Authors: George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon and Monica Kumar

Citation: Orphanet Journal of Rare Diseases 2023 18:55

Content type: Correction Published on: 14 March 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:437
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Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel

Authors: Menachem Sadeh, Avi Livneh, Michael Arad and Alexander Lossos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O5

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Correction to: Growth in ataxia telangiectasia

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

Authors: Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter and Howard M. Lederman

Citation: Orphanet Journal of Rare Diseases 2021 16:248

Content type: Correction Published on: 1 June 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:123
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