Enrico Bugiardini - Concepedia

Author

Enrico Bugiardini

Also Known As

Abdullhameed May Ali, Bernard Brais, Bugiardini, E, E Bugiardini, E. Bugiardini, ENRICO BUGIARDINI, Enrico Bugiardini, Enrico Bugiardini (500749), Michael C Fahey, Michael C. Fahey

115

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

University College London National Hospital for Neurology and Neurosurgery University of Milan IRCCS Policlinico San Donato Great Ormond Street Hospital

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	17	814
2	Health Sciences	7	7	288
3	Social Sciences	2	2	51
4	Natural Sciences	1	1	11
5	Public Health	1	1	90

Enrico Bugiardini

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Andrea Cortese, Yi Zhu, Adriana Rebelo, Nature Genetics Biallelic MutationsSomatic VariantGenetic DisorderGeneticsDiabetes	2020	170
GSK3β mediates muscle pathology in myotonic dystrophy Karlie Jones, Christina Wei, Polina Iakova, Journal of Clinical Investigation Muscle FunctionMolecular RegulationNeuromusculoskeletal DisorderSkeletal Muscle WeaknessCellular Physiology	2012	127
Clinical and genetic characterization of leukoencephalopathies in adults David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Brain Neurological DisorderGeneticsGenetic EpidemiologyWhole ExomePathology	2017	90
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Katherine Schon, Rita Horváth, Wei Wei, BMJ	2021	83
Autonomic innervation in multiple system atrophy and pure autonomic failure Vincenzo Donadio, Pietro Cortelli, Mikael Elam, Journal of Neurology Neurosurgery & Psychiatry	2010	74
Plasma microRNAs as biomarkers for myotonic dystrophy type 1 Alessandra Perfetti, Simona Greco, Enrico Bugiardini, Neuromuscular Disorders	2014	66
Small fiber neuropathy in female patients with fabry disease Rocco Liguori, Vitantonio Di Stasi, Enrico Bugiardini, Muscle & Nerve	2010	61
Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies Karen Suetterlin, Enrico Bugiardini, Juan Pablo Kaski, JAMA Neurology Muscle FunctionPharmacotherapyLong-term SafetyOrthopaedic SurgeryNeuromuscular Blockade	2015	59
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype Enrico Bugiardini, Ilaria Rivolta, Anna Binda, Neuromuscular Disorders Rare DiseasesScn4a MutationMendelian DisorderGenetic DisorderGenetics	2015	51
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Frontiers in Neurology	2018	50

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