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Search results (49)

« Back to Publications

The use of genetic testing in amyotrophic lateral sclerosis (ALS): a practical approach.

Chaouch A. et al, (2026), Amyotroph Lateral Scler Frontotemporal Degener, 27, 28 - 34

Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis.

Douglas AGL., (2025), Eur J Hum Genet, 33, 1093 - 1095

Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene

Mcneill A. et al, (2025), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26, 352 - 353

Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members

Howard J. et al, (2025), European Journal of Human Genetics, 33, 7 - 13

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

Jaramillo Oquendo C. et al, (2024), Genome Medicine, 16

Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia

Douglas AGL. et al, (2024), BMJ Neurology Open, 6, e000792 - e000792

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

Wai HA. et al, (2024), Experimental & Molecular Medicine, 56, 1816 - 1825

Reduced penetrance of gene variants causing amyotrophic lateral sclerosis

Douglas AGL. and Baralle D., (2024), Journal of Medical Genetics, 61, 294 - 297

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

Jaramillo Oquendo C. et al, (2023)

Predicting the impact of rare variants on RNA splicing in CAGI6

Lord J. et al, (2023)

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Mattison KA. et al, (2023), Brain, 146, 1357 - 1372

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Burglen L. et al, (2023), eLife, 12

NovelDNM1Lvariants impair mitochondrial dynamics through divergent mechanisms

Nolden KA. et al, (2022), Life Science Alliance, 5, e202101284 - e202101284

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Blakes AJM. et al, (2022), Genome Medicine, 14

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication

Martinez-Falero BS. et al, (2022), Clinical and Experimental Dermatology, 47, 2342 - 2345

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