Concepedia

Enrico Bugiardini

EB

52

Publications

1.8K

Citations

24

H-Index

2007

Active since

Affiliations

University College London(Current)

National Hospital for Neurology and Neurosurgery

University of Milan

IRCCS Policlinico San Donato

Great Ormond Street Hospital

Enrico Bugiardini is an author at University College London specializing in medicine, genetics, and physiology.

Top concepts

MedicineGeneticsHealthPhysiologyNeurologyPathologyNeuropathologyNeuromuscular DisordersNeuromuscular PathologyNeuroscience

Publications per year

2007–2025

52

Publications

52

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

GSK3β mediates muscle pathology in myotonic dystrophy

Karlie Jones, Christina Wei, Polina Iakova et al. · Journal of Clinical Investigation · 2012 · 127 citations

Muscle Function, Molecular Regulation, Neuromusculoskeletal Disorder +22

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang et al. · Brain · 2017 · 90 citations · Full text

Neurological Disorder, Genetics, Genetic Epidemiology +21

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Katherine Schon, Rita Horváth, Wei Wei et al. · BMJ · 2021 · 83 citations · Full text

Autonomic innervation in multiple system atrophy and pure autonomic failure

Vincenzo Donadio, Pietro Cortelli, Mikael Elam et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 74 citations · Full text

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