Related Experiment Video

Updated: Jun 26, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K

Double pathogenic variant in an ATTRv patient with mixed phenotype

Maria Ausilia Sciarrone1, Rosa Lillo2, Angela Romano1

  • 1UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
|May 16, 2024
PubMed
Summary

No abstract available in PubMed .

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

Related Experiment Videos

Last Updated: Jun 26, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

34.2K
The Concept of Multiple Allelism
34.2K
Viral Recombination00:57

Viral Recombination

23.4K
Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.
23.4K

Articles linked to this work by shared authors, journal, and citation graph.

Introducing High School Students to Radiation Oncology Through a Case-Based School-Work Orientation Program: The "Invisible Scalpel" Experience.

Journal of cancer education : the official journal of the American Association for Cancer Education·2026

Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.

Orphanet journal of rare diseases·2026

Timing matters: how mechanism-guided sequencing shapes the efficacy of radiotherapy-immunotherapy combinations : A systematic review.

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]·2026

Reliable quantification of renal function from frozen blood samples.

medRxiv : the preprint server for health sciences·2026

Comorbidity sequence, sex, and APOE-genotype forecast Alzheimer's disease diagnosis.

Frontiers in medicine·2026

Left atrioventricular coupling index in transthyretin amyloid cardiomyopathy: Association with mortality.

International journal of cardiology·2026

Clinical significance of gastric food residue in gastrointestinal hereditary transthyretin amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

Fewer gastrointestinal events with vutrisiran versus placebo in patients with transthyretin amyloidosis with cardiomyopathy: analysis from the phase 3 HELIOS-B study.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

Progressive leptomeningeal involvement on gadolinium-enhanced FLAIR MRI in hereditary transthyretin amyloidosis with the V30M (p.V50M) mutation.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

Guidelines for the management of hereditary ATTR amyloidosis 2026.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

Hepatic multimodal phenotyping in AL amyloidosis with cardiac involvement: the D-Amy-LIPHE study.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

Fat aspiration for amyloidosis screening of 2830 patients from 2013 to 2020: compelling sensitivity for AL and better sensitivity in females for all major subtypes.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2026

From classification to anteromedial cortical contact: an integrative review of the Japanese and international literature on trochanteric fracture reduction and fixation.

International orthopaedics·2026

Stochastic Entanglement of Deterministic Origami Tentacles For Robust Robotic Grasping.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Outcomes with use of a modular, cementless, tapered and fluted femoral prosthesis in revision hip arthroplasty with mid-term follow-up.

Hip international : the journal of clinical and experimental research on hip pathology and therapy·2026

Fstl1 determines luminal size of mouse trachea through negative regulation of BMP4 signaling.

iScience·2026

Patient-specific three-dimensional (3-D) cutting guides and custom plates in the management of tibia and femur malunion - an update.

Journal of clinical orthopaedics and trauma·2026

Tri-WOB: A Bistability-Driven Variable Stiffness Origami Structure for Soft Robotic Arms.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us