Joanne Martindale

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Johnathan Cooper‐Knock, Christopher Hewitt, J. Robin Highley et al. · Brain · 2012 · 334 citations · Full text

Amyotrophic Lateral Sclerosis, Neurological Disorder, Intronic Expansion +13

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients

Marios Hadjivassiliou, Joanne Martindale, Priya Shanmugarajah et al. · Journal of Neurology Neurosurgery & Psychiatry · 2016 · 195 citations

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Jorge Sequeiros, Sara Seneca, Joanne Martindale · European Journal of Human Genetics · 2010 · 92 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +11

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

<i>HSP60</i> IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

Channa Hewamadduma, Janine Kirby, Christopher J. Kershaw et al. · Neurology · 2008 · 21 citations

Rare Diseases, Mendelian Disorder, Broad Clinical Variability +14