Hereditary Transthyretin Amyloidosis Misdiagnosed as Demyelinating Neuropathy: A Report of Three Cases

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 ◽

Naresh Bumma ◽

Diego Delgado ◽

Andrew Keller ◽

Sami Khella ◽

...

Keyword(s):

Genetic Testing ◽

Testing Program ◽

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 ◽

Andrey Kirov ◽

Teodora Chamova ◽

...

Keyword(s):

Genetic Structure ◽

Population Genetic Structure ◽

Population Genetic ◽

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 ◽

...

Keyword(s):

High Risk ◽

Genomic Screening ◽

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):

V30m Mutation ◽

Nerve Ultrasonography ◽

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 ◽

Author(s):

Adriano-Valerio Schettini ◽

Laura Llado ◽

Julie K Heimbach ◽

Jose Gonzalez Costello ◽

Marie Tranäng ◽

...

Keyword(s):

Liver Transplantation ◽

Early Diagnosis ◽

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 ◽

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 ◽

Biopsy Diagnosis ◽

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 ◽

Amyloid Polyneuropathy ◽

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 ◽

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):