Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis (Q28076550)

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4 March 2020

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1 October 2020

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26734953%20AND%20SRC:MED&resulttype=core&format=json

familial amyloid neuropathy

4 March 2020

main subject

4 references

24 March 2019

22 April 2019

25 April 2019

1 October 2020

1 reference

1 October 2020

transthyretin amyloidosis

1 reference

1

1 reference

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Ole B. Suhr

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4 March 2020

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Juan Buades

3

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4 March 2020

David Adams

4

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4 March 2020

Teresa Coelho

6

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4 March 2020

Theodore Kyriakides

7

2 references

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4 March 2020

Jan B Kuks

2

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4 March 2020

European Network for TTR-FAP (ATTReuNET)

8

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1 February 2016

5 references

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1 October 2020

Current Opinion in Neurology

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22 April 2019

25 April 2019

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1 October 2020

29 Suppl 1

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S27-35

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Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

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copyright license

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ScienceSource

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cites work

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Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative?

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Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

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Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy

29 September 2017

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Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.

29 September 2017

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29 September 2017

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Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers

29 September 2017

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Regional difference and similarity of familial amyloidosis with polyneuropathy in France

29 September 2017

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29 September 2017

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29 September 2017

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Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

29 September 2017

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TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

29 September 2017

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Diagnosis and typing of systemic amyloidosis: The role of abdominal fat pad fine needle aspiration biopsy

29 September 2017

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Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

29 September 2017

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Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I.

29 September 2017

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Transthyretin mutations in hyperthyroxinemia and amyloid diseases

29 September 2017

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A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy

29 September 2017

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Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

29 September 2017

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Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions

29 September 2017

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Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools

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27 November 2018

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27 November 2018

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27 November 2018

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27 November 2018

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Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.

27 November 2018

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Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy.

27 November 2018

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27 November 2018

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27 November 2018

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The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology

27 November 2018

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Recommendations for the predictive genetic test in Huntington's disease

27 November 2018

1 reference

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27 November 2018

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Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent

27 November 2018

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Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.

27 November 2018

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27 November 2018

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27 November 2018

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10.1097/WCO.0000000000000290

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26734953%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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4 March 2020

PubMed publication ID

26734953

2 references