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Hereditary transthyretin amyloidosis with polyneuropathy in the neurologic clinic: Results from 12 months of genetic screening in the western Sicily
Journal of the Neurological Sciences
◽
10.1016/j.jns.2021.118368
◽
2021
◽
Vol 429
◽
pp. 118368
Author(s):
Vincenzo Di Stefano
◽
Andrea Gagliardo
◽
Antonino Lupica
◽
Salvatore Iacono
◽
Angelo Torrente
◽
...
Keyword(s):
Genetic Screening
◽
Transthyretin Amyloidosis
◽
Western Sicily
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
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CHARACTERISTICS OF PATIENTS WITH P.V142I MUTATIONS ASSOCIATED WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS: INSIGHTS FROM A GENETIC TESTING PROGRAM
Journal of the American College of Cardiology
◽
10.1016/s0735-1097(21)02101-x
◽
2021
◽
Vol 77
(18)
◽
pp. 742
Author(s):
Keyur B. Shah
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Naresh Bumma
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Diego Delgado
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Andrew Keller
◽
Sami Khella
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Keyword(s):
Genetic Testing
◽
Transthyretin Amyloidosis
◽
Testing Program
◽
Hereditary Transthyretin Amyloidosis
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Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria
Amyloid
◽
10.1080/13506129.2021.1935230
◽
2021
◽
pp. 1-7
Author(s):
Zornitsa Pavlova
◽
Stayko Sarafov
◽
Tihomir Todorov
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Andrey Kirov
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Teodora Chamova
◽
...
Keyword(s):
Genetic Structure
◽
Population Genetic Structure
◽
Population Genetic
◽
Transthyretin Amyloidosis
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis
Molecular Genetics and Metabolism
◽
10.1016/s1096-7192(21)00614-4
◽
2021
◽
Vol 132
◽
pp. S348-S349
Author(s):
Emily Soper
◽
Sabrina A. Suckiel
◽
Giovanna Braganza
◽
Amy Kontorovich
◽
Eimear Kenny
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...
Keyword(s):
High Risk
◽
Transthyretin Amyloidosis
◽
Genomic Screening
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Hereditary Transthyretin Amyloidosis
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Nerve ultrasonography features in hereditary transthyretin amyloidosis with V30M mutation and polyneuropathy
Neurological Sciences
◽
10.1007/s10072-020-05033-w
◽
2021
◽
Author(s):
Alessandro Salvalaggio
◽
Daniele Coraci
◽
Mario Cacciavillani
◽
Luca Padua
◽
Chiara Briani
Keyword(s):
Transthyretin Amyloidosis
◽
V30m Mutation
◽
Nerve Ultrasonography
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
Symptomatic Val122del mutated hereditary transthyretin amyloidosis: Need for early diagnosis and prioritization for heart and liver transplantation
Hepatobiliary & Pancreatic Diseases International
◽
10.1016/j.hbpd.2021.05.002
◽
2021
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Author(s):
Adriano-Valerio Schettini
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Laura Llado
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Julie K Heimbach
◽
Jose Gonzalez Costello
◽
Marie Tranäng
◽
...
Keyword(s):
Liver Transplantation
◽
Early Diagnosis
◽
Transthyretin Amyloidosis
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
Treatment satisfaction for gene silencing pharmacotherapies for the treatment of hereditary transthyretin amyloidosis with polyneuropathy
Journal of the Neurological Sciences
◽
10.1016/j.jns.2021.119346
◽
2021
◽
Vol 429
◽
pp. 119346
Author(s):
Asia Sikora Kessler
◽
Duncan Brown
◽
Montserrat Llonch
◽
Aaron Yarlas
◽
Kristen Mccausland
Keyword(s):
Gene Silencing
◽
Treatment Satisfaction
◽
Transthyretin Amyloidosis
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
Non-biopsy Diagnosis of Hereditary Transthyretin Amyloidosis Presented with Cardiomyopathy and Peripheral Neuropathy in a Chinese Man in Hong Kong
International Journal of Rare Diseases & Disorders
◽
10.23937/2643-4571/1710018
◽
2020
◽
Vol 3
(1)
◽
Author(s):
Ho Mei Han
◽
Yip Pui Lun
◽
Ho Cheuk Bong
◽
Wong Felix Chi Kin
◽
Chen Sammy Pak Lam
◽
...
Keyword(s):
Hong Kong
◽
Peripheral Neuropathy
◽
Transthyretin Amyloidosis
◽
Biopsy Diagnosis
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
VI. Familial Amyloid Polyneuropathy (Hereditary Transthyretin Amyloidosis)
Nihon Naika Gakkai Zasshi
◽
10.2169/naika.108.1552
◽
2019
◽
Vol 108
(8)
◽
pp. 1552-1561
Author(s):
Yukio Ando
Keyword(s):
Familial Amyloid Polyneuropathy
◽
Transthyretin Amyloidosis
◽
Amyloid Polyneuropathy
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Hereditary Transthyretin Amyloidosis
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CRISPR Gene Editing Reduces Disease-Causing Protein in Hereditary Transthyretin Amyloidosis
Neurology Today
◽
10.1097/01.nt.0000797976.28800.9d
◽
2021
◽
Vol 21
(19)
◽
pp. 13-14
Author(s):
Thomas R. Collins
Keyword(s):
Gene Editing
◽
Transthyretin Amyloidosis
◽
Hereditary Transthyretin Amyloidosis
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Faculty Opinions recommendation of Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.733576185.793583158
◽
2021
◽
Author(s):
WH Wilson Tang
Keyword(s):
Transthyretin Amyloidosis
◽
Hereditary Transthyretin Amyloidosis
Download Full-text
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