Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Articles by Amina Chaouch
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members - European Journal of Human Genetics
Abstract Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. Increasing numbers of people with MND are requesting genetic testing, and indeed receiving a genetic diagnosis. Consequently, requests for genetic counselling and predictive testing (i.e. of unaffected family members) are similarly expected to rise, alongside pre-symptomatic clinical trials.
Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions - European Journal of Human Genetics
Introduction 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 genome sequencing (WGS) and the NHS Genomic Test Directory in 2018 [1, 2]. In addition to WGS becoming more accessible, this has increased the chances of receiving a genetic diagnosis, established the reproductive implications of germline genetic variants and, in some patients, guided management [3].
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
Background Hexanucleotide repeat expansions of C9ORF72 account for a significant proportion of autosomal dominant neurodegenerative diseases in the amyotrophic lateral sclerosis (ALS)–frontotemporal dementia spectrum. In the absence of a family history, clinical identification of such patients remains difficult.
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
http://orcid.org/0000-0003-1349-1374Laura Michelle White1, Jeremy Boardman2, James Lilleker1,3, Amina Chaouch1, Haga Kargwell1, John Ealing1, Hisham Hamdalla1 1Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Salford, UK 2Royal Preston Hospital, Preston, UK 3Centre for Musculoskeletal Research, The University of Manchester School of Biological Sciences, Manchester, UK Correspondence to Dr Hisham Hamdalla, Manchester Centre for Clinical Neurosciences, Salford Royal...
Show More
loading
Actions
Is this you?
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Get in touch with Amina
Contact Amina, search articles and posts on X, monitor coverage, and track replies from one place.
Learn more about Muck Rack