Molecular genetics of amyloid neuropathy in Europe

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

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Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines.

Therapeutics and clinical risk management·2020

Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial.

European journal of neurology·2020

Amniotic fluid embolism: Then and now.

Obstetric medicine·2016

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EBioMedicine·2016

Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials.

Journal of the neurological sciences·2014

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Lancet (London, England)·2026

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

Network analysis of the genetic relationships between twenty psychiatric and substance use disorders.

World psychiatry : official journal of the World Psychiatric Association (WPA)·2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.

Molecular genetics & genomic medicine·2026

Heterogeneity of azithromycin resistance markers in Neisseria gonorrhoeae and challenges in implementing molecular assays for routine surveillance.

New microbes and new infections·2026

Large-Scale Neuroimaging and Genetic Analyses of the Human Thalamus in Loneliness.

Biological psychiatry global open science·2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Biochemistry and biophysics reports·2026

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

Global medical genetics·2026

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