Pedro Mancías
Office of Multidisciplinary Activities(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Neurological diseases and metabolism, Diversity and Career in Medicine
Most-Cited Works
- → Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies(1998)491 cited
- → Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations(2004)418 cited
- → Reanalysis of Clinical Exome Sequencing Data(2019)291 cited
- → Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation(2001)279 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited
- → Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR 1 ‐ and SOD 1 ‐linked ALS(2016)222 cited
- → The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families(2016)118 cited
- → Laminin α2 muscular dystrophy(1998)118 cited
- → Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy(1996)114 cited
- → SIMPLEmutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation(2005)83 cited