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Enrico Bugiardini
Enrico Bugiardini
University College London, Institute of Neurology
在 ucl.ac.uk 的电子邮件经过验证
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引用次数
引用次数
年份
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
2082019
GSK3β mediates muscle pathology in myotonic dystrophy
K Jones, C Wei, P Iakova, E Bugiardini, C Schneider-Gold, G Meola, ...
The Journal of clinical investigation 122 (12), 4461-4472, 2012
1452012
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
A Cortese, Y Zhu, AP Rebelo, S Negri, S Courel, L Abreu, CJ Bacon, ...
Nature genetics 52 (5), 473-481, 2020
1292020
Clinical and genetic characterization of leukoencephalopathies in adults
DS Lynch, A Rodrigues Brandão de Paiva, WJ Zhang, E Bugiardini, ...
Brain 140 (5), 1204-1211, 2017
872017
Plasma microRNAs as biomarkers for myotonic dystrophy type 1
A Perfetti, S Greco, E Bugiardini, R Cardani, P Gaia, C Gaetano, G Meola, ...
Neuromuscular Disorders 24 (6), 509-515, 2014
862014
Autonomic innervation in multiple system atrophy and pure autonomic failure
V Donadio, P Cortelli, M Elam, V Di Stasi, P Montagna, B Holmberg, ...
Journal of Neurology, Neurosurgery & Psychiatry 81 (12), 1327-1335, 2010
822010
Small fiber neuropathy in female patients with Fabry disease
R Liguori, V Di Stasi, E Bugiardini, R Mignani, A Burlina, W Borsini, ...
Muscle & Nerve: Official Journal of the American Association of …, 2010
812010
Long-term safety and efficacy of mexiletine for patients with skeletal muscle channelopathies
KJ Suetterlin, E Bugiardini, JP Kaski, JM Morrow, E Matthews, MG Hanna, ...
JAMA neurology 72 (12), 1531-1533, 2015
642015
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ...
Bmj 375, 2021
592021
Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness
V Donadio, R Liguori, R Vetrugno, M Contin, M Elam, BG Wallin, ...
Journal of sleep research 16 (3), 327-332, 2007
582007
SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype
E Bugiardini, I Rivolta, A Binda, AS Caminero, F Cirillo, A Cinti, ...
Neuromuscular disorders 25 (4), 301-307, 2015
532015
Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24–27, 2013, Ferrere (AT), Italy
E Bugiardini, G Meola
Neuromuscular Disorders 24 (5), 445-452, 2014
532014
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
R Cardani, M Giagnacovo, A Botta, F Rinaldi, A Morgante, B Udd, ...
Journal of neurology 259, 2090-2099, 2012
532012
The diagnostic value of MRI pattern recognition in distal myopathies
E Bugiardini, JM Morrow, S Shah, CL Wood, DS Lynch, AM Pitmann, ...
Frontiers in neurology 9, 456, 2018
482018
Muscle biopsy
G Meola, E Bugiardini, R Cardani
Journal of neurology 259, 601-610, 2012
482012
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study
YS Ng, MH Martikainen, GS Gorman, A Blain, E Bugiardini, A Bunting, ...
Annals of neurology 86 (2), 310-315, 2019
452019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
E Bugiardini, AL Mitchell, ID Rosa, HT Horning-Do, AM Pitmann, ...
Human Molecular Genetics 28 (16), 2711-2719, 2019
442019
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2
R Cardani, E Bugiardini, LV Renna, G Rossi, G Colombo, R Valaperta, ...
PLoS One 8 (12), e83777, 2013
442013
Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?
V Donadio, M Nolano, M Elam, P Montagna, V Provitera, E Bugiardini, ...
Movement disorders 23 (6), 885-888, 2008
432008
Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies
E Passeri, E Bugiardini, VA Sansone, R Valaperta, E Costa, B Ambrosi, ...
Journal of the neurological sciences 331 (1-2), 132-135, 2013
422013
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