Janine Kirby
Instituto de Investigaciones Biomédicas Sols-Morreale(ES)Universidad Autónoma de Madrid(ES)University of Sheffield(GB)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, Parkinson's Disease Mechanisms and Treatments, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study(2012)1,213 cited
- → Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations(2007)982 cited
- → Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis(2011)607 cited
- → C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis(2015)510 cited
- → Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72(2012)336 cited
- → Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions(2014)318 cited