José Luís Muñoz-Blanco
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Hereditary Neurological Disorders
Most-Cited Works
- → Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS(2014)368 cited
- → Long-lasting treatment effect of rituximab in MuSK myasthenia(2012)338 cited
- → NEK1 variants confer susceptibility to amyotrophic lateral sclerosis(2016)285 cited
- → CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia(2016)207 cited
- → ALS: A bucket of genes, environment, metabolism and unknown ingredients(2016)192 cited
- → Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia(2013)109 cited
- → Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide(2012)96 cited
- → Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis(2020)82 cited
- → Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism(2019)64 cited
- → Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation(2017)59 cited