Orla Hardiman
A5030609927- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Prion Diseases and Protein Misfolding
- Neurological disorders and treatments
- Functional Brain Connectivity Studies
- Muscle Physiology and Disorders
- Advanced Neuroimaging Techniques and Applications
- Cerebral Palsy and Movement Disorders
- Cancer-related gene regulation
- Multiple Sclerosis Research Studies
- Palliative Care and End-of-Life Issues
- Intracerebral and Subarachnoid Hemorrhage Research
- Dementia and Cognitive Impairment Research
- Cholinesterase and Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Healthcare Decision-Making and Restraints
- EEG and Brain-Computer Interfaces
- Genomics and Rare Diseases
- Ion channel regulation and function
- Genetic Associations and Epidemiology
- Family and Disability Support Research
Trinity College Dublin
2016-2025
Beaumont Hospital
2016-2025
Royal College of Surgeons in Ireland
2006-2025
Botsford Hospital
1989-2024
Beaumont Hospital, Dearborn
1989-2024
Inserm
2024
St. James's Hospital
2013-2024
Centre National de la Recherche Scientifique
2024
National Human Genome Research Institute
2024
University of Oxford
2024
Background: The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak. Objectives: To provide evidence‐based or expert recommendations ALS based on a literature search consensus an panel. Methods: All available medical reference systems were searched, original papers, meta‐analyses, review book chapters guidelines reviewed. final was performed in February 2011. Recommendations reached by consensus. Recommendations: Patients with symptoms suggestive...
<h3>Background</h3> Geographical differences in the incidence of amyotrophic lateral sclerosis (ALS) have been reported literature but comparisons across previous studies are limited by different methods case ascertainment and relatively small size studied populations. To address these issues, authors undertook a pooled analysis European population based ALS registries. <h3>Methods</h3> All new incident cases subjects aged 18 years old older were identified prospectively six registries three...
<h3>Background</h3> Despite considerable interest, the population-based frequency, clinical characteristics and natural history of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not known. <h3>Methodology</h3> The authors undertook a prospective study function 160 incident Irish ALS patients 110 matched controls. Home-based visits were conducted to collect demographic neuropsychological data. Patients classified using recently published consensus criteria by domain-based...
© 2020 The Authors. Published by Elsevier B.V. on behalf of International Federation Clinical Neurophysiology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Mutation in the CHMP2B gene has been implicated frontotemporal dementia. The authors screened patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) two non-SOD1 ALS. Neuropathology Q206H case showed lower motor neuron predominant disease ubiquitylated inclusions neurons. Antibodies to p62 (sequestosome 1) novel oligodendroglial cortex.
Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem an important step toward integrating WGS into precision medicine. We developed a software tool called ExpansionHunter that, using PCR-free data, can genotype at the locus interest, even if expanded repeat larger than read length. applied our algorithm data...