Publications by authors named "Enrico Bugiardini"

35Publications

Differential Diagnoses of Inclusion Body Myositis.

Neurol Clin 2020 08;38(3):697-710

Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, University College London, 1st Floor, Russell Square House, 10-12 Russell Square, London WC1B 5EH, UK; Division of Medicine, Centre for Rheumatology, University College London, 1st Floor, Russell Square House, 10-12 Russell Square, London WC1B 5EH, UK. Electronic address:

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August 2020

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder.

J Neurol Neurosurg Psychiatry 2020 08 11;91(8):892-894. Epub 2020 Jun 11.

Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom

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August 2020

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA () variant.

Neurol Genet 2020 Apr 18;6(2):e413. Epub 2020 Mar 18.

Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.

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April 2020

Expanding the molecular and phenotypic spectrum of truncating mutations.

Neurol Genet 2020 Feb 7;6(1):e381. Epub 2020 Jan 7.

Department of Neuromuscular Diseases (E. Bugiardini, O.V.P, A.H., H.H., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Mitochondrial Medicine Group (E. Bottani, C.B., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, United Kingdom; Department of Molecular and Translational Medicine (E. Bottani, A.V.), University of Brescia; Medical Genetics and Neurogenetics Unit (S.M., E.L., C.L.), Fondazione IRCCS Istituto Neurologico, "C. Besta," Milan, Italy; Neurogenetics Unit (C.W.), and Neurometabolic Unit (A.L., I.H., A.C.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (K.V., J.L.H.), UCL Queen Square Institute of Neurology; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.

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February 2020

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 10 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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October 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases.

J Clin Med 2019 07 8;8(7). Epub 2019 Jul 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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July 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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April 2019

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Mitochondrion 2019 07 8;47:294-297. Epub 2019 Feb 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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July 2019

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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June 2018

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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August 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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June 2017

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

JAMA Neurol 2015 Dec;72(12):1531-3

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England.

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December 2015

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Eur J Clin Invest 2015 Jul 1;45(7):702-10. Epub 2015 Jun 1.

Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.

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July 2015

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

Neuromuscul Disord 2014 Dec 25;24(12):1042-53. Epub 2014 Jun 25.

Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy; Department of Neurology, University of Milan, IRCCS-Policlinico San Donato, Milan, Italy. Electronic address:

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December 2014

Plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Neuromuscul Disord 2014 Jun 18;24(6):509-15. Epub 2014 Feb 18.

Policlinico San Donato-IRCCS, San Donato Milanese, Milan, Italy. Electronic address:

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June 2014

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

PLoS One 2013 20;8(12):e83777. Epub 2013 Dec 20.

Laboratory of Muscle Histopathology and Molecular Biology, IRCCS-Policlinico San Donato, Milan, Italy ; Department of Neurology, University of Milan, IRCCS-Policlinico San Donato, Milan, Italy.

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March 2015

GSK3β mediates muscle pathology in myotonic dystrophy.

J Clin Invest 2012 Dec 19;122(12):4461-72. Epub 2012 Nov 19.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas 77030, USA.

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December 2012

Small fiber neuropathy in female patients with fabry disease.

Muscle Nerve 2010 Mar;41(3):409-12

Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.

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March 2010