Nick Beauchamp

Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S

Michael Makris, M.J. Leach, Nick Beauchamp et al. · Blood · 2000 · 134 citations

Medicine, Genetics, Molecular Genetics +17

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Stephanie Shepheard, Matthew Parker, Johnathan Cooper‐Knock et al. · Journal of Neurology Neurosurgery & Psychiatry · 2021 · 115 citations · Full text

Life Sciences, Genetics, Neurology +14

Novel genotype-phenotype and MRI correlations in a large cohort of patients with <i>SPG7</i> mutations

Channa Hewamadduma, Nigel Hoggard, Ronan O’Malley et al. · Neurology Genetics · 2018 · 58 citations · Full text

Life Sciences, Genetics, Neurology +17

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Riccardo Curró, Natalia Dominik, Stefano Facchini et al. · Brain · 2024 · 28 citations · Full text

Life Sciences, Biostatistics, Aging +12

Simultaneous ALS and SCA2 associated with an intermediate-length <i>ATXN2</i> CAG-repeat expansion

Helia Ghahremani Nezhad, John Franklin, James J. P. Alix et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2020 · 25 citations · Full text

Life Sciences, Neurology, Neuroscience +17