Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study

J Howard, F Mazanderani, KF Keenan… - Health …, 2024 - Wiley Online Library
Background Motor neuron disease (MND)(also known as amyotrophic lateral sclerosis) is a
life‐limiting neurodegenerative condition. In up to 20% of people with MND, a pathogenic …

Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study

J Howard, K Forrest Keenan… - Journal of genetic …, 2024 - Wiley Online Library
Predictive genetic testing is increasingly available for individuals with a heightened risk of
motor neuron disease (MND). However, little is known about how they decide whether or not …

How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS

M Fontaine, K Horowitz, N Anoja, A Genge… - … Lateral Sclerosis and …, 2024 - Taylor & Francis
Objective: Genetic testing practices are rapidly evolving for people living with, or at-risk for,
amyotrophic lateral sclerosis (ALS), due to emerging genotype-driven therapies. This study …

Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions

A Chaouch, F Ulph, J Alder, H Hamdalla… - European Journal of …, 2024 - nature.com
Over the past several years, clinicians, patients and families in the UK have witnessed a
dramatic change in the way genetic testing is performed, with the introduction of whole …

How the prospect of a clinical trial impacts decision-making for predictive genetic testing in amyotrophic lateral sclerosis

M Fontaine, K Horowitz, N Anoja, A Genge, K Salmon - medRxiv, 2024 - medrxiv.org
Objective: Genetic testing practices are rapidly evolving for people living with, or at-risk for,
amyotrophic lateral sclerosis (ALS), due to emerging genotype-driven therapies. This study …

ENROLL-HD for MND?

E Pears, L Stokes, A McNeill - European Journal of Human Genetics, 2023 - nature.com
Motor Neuron Disease (MND) is an incurable neurodegenerative disorder. In around 20% of
cases there is an identifiable monogenic cause, with autosomal dominant inheritance in the …

[HTML][HTML] BİR MOTOR NÖRON HASTALIĞI NEDENİ KALSİYUM KANALOPATİSİ: OLGU SUNUMU

C Söylemez, N Aygündüz Yapıcı, İ Özer, İ Şengün - avesis.deu.edu.tr
BİR MOTOR NÖRON HASTALIĞI NEDENİ KALSİYUM KANALOPATİSİ: OLGU
SUNUMUGİRİŞ VE AMAÇ Motor nöron hastalığı (MNH), motor nöronların ilerleyici …

[引用][C] Poznavanje genetskih bolezni med medicinskimi sestrami

B Hebar - 2023 - repozitorij.upr.si
Nurses play an important role in the delivery of healtcare. They are expected to have
necessary skills to be properly informed, aware and knowledgeable about genetics, genetic …