Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster-Reference-Cited by-同舟云学术

Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster

Published:2020-07-07 Issue:4 Volume:27 Page:254-258
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Cisneros-Barroso Eugenia¹²,González-Moreno Juan¹²,Rodríguez Adrian¹²,Ripoll-Vera Tomas²³,Álvarez Jorge²³,Usón Mercedes²⁴,Figuerola Antonio²⁴,Descals Cristina²⁴,Montalá Carles²⁴,Ferrer-Nadal Maria Asunción²⁵,Losada Ines¹²

Affiliation:

1. Internal Medicine Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain

2. Research Health Institute of the Balearic Islands (IdISBa), Son Llàtzer University Hospital, Palma de Mallorca, Spain

3. Cardiology Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain

4. Neurology/Neurophysiology Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain

5. Nephrology Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1789580

Reference40 articles.

1. Guideline of transthyretin-related hereditary amyloidosis for clinicians

2. Pathogenesis of transthyretin amyloidosis

3. Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain)

4. Recent advances in transthyretin amyloidosis therapy

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1. Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation;Neurological Sciences;2024-09-14

2. A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study;Orphanet Journal of Rare Diseases;2024-09-06

3. Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability;Journal of Neurology;2024-06-22

4. Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca;Orphanet Journal of Rare Diseases;2023-08-31

5. Clinical model for Hereditary Transthyretin Amyloidosis age of onset prediction;Frontiers in Neurology;2023-07-17