Michael G Hanna

Michael G Hanna

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Michael G Hanna

Michael G Hanna

Publications by authors named "Michael G Hanna"

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In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.

Clin Neurophysiol 2020 Apr 27;131(4):816-827. Epub 2020 Jan 27.

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

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http://dx.doi.org/10.1016/j.clinph.2019.12.414DOI Listing
April 2020

Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.

Lancet Child Adolesc Health 2020 Mar 3. Epub 2020 Mar 3.

Department of Neuromuscular Diseases, Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, University College London Hospitals National Health Service Foundation Trust, London, UK.

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http://dx.doi.org/10.1016/S2352-4642(19)30425-0DOI Listing
March 2020

Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice.

Dis Model Mech 2020 Mar 9. Epub 2020 Mar 9.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK

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http://dx.doi.org/10.1242/dmm.042424DOI Listing
March 2020

Plasma pNfH levels differentiate SBMA from ALS.

J Neurol Neurosurg Psychiatry 2020 Feb 1;91(2):215-217. Epub 2019 Oct 1.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

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http://dx.doi.org/10.1136/jnnp-2019-320624DOI Listing
February 2020

Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions.

Neuromuscul Disord 2020 Feb 4;30(2):173-179. Epub 2019 Dec 4.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, WC1N 3BG London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.11.013DOI Listing
February 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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http://dx.doi.org/10.1212/NXG.0000000000000381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984135PMC
February 2020

Drug repurposing in neurological diseases: an integrated approach to reduce trial and error.

J Neurol Neurosurg Psychiatry 2019 Nov 6;90(11):1270-1275. Epub 2019 Jun 6.

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

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http://dx.doi.org/10.1136/jnnp-2019-320879DOI Listing
November 2019

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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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
October 2019

Possible role of skeletal muscle mutation in apnea during seizure.

Epilepsia Open 2019 Sep 1;4(3):498-503. Epub 2019 Jul 1.

Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey.

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http://dx.doi.org/10.1002/epi4.12347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698682PMC
September 2019

Investigation of the psychometric properties of the inclusion body myositis functional rating scale with rasch analysis.

Muscle Nerve 2019 08 7;60(2):161-168. Epub 2019 Jun 7.

Queen Square MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, 8-11 Queen Square, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1002/mus.26521DOI Listing
August 2019

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.

Neurology 2019 08 7;93(9):e895-e907. Epub 2019 Aug 7.

From the Neuroradiological Academic Unit (C.D.J.S., S.J.W., A.E., S.S., T.A.Y., J.S.T.), and MRC Centre for Neuromuscular Diseases (U.K., L.Z., K.T., R.S.H., N.S., K.S., M.G.H., L.G., J.M.M., P.F.), UCL Queen Square Institute of Neurology, University College London; Blizard Institute (A.M.), Queen Mary University of London, UK; and Department of Radiology (U.K.), University Hospital Tulln, Karl Landsteiner University of Health Sciences, Tulln, Austria.

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http://dx.doi.org/10.1212/WNL.0000000000008009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745729PMC
August 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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https://linkinghub.elsevier.com/retrieve/pii/S15677249183017
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http://dx.doi.org/10.1016/j.mito.2019.02.004DOI Listing
July 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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http://dx.doi.org/10.3390/jcm8070991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679130PMC
July 2019

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply.

Lancet 2019 06 6;393(10188):2301-2302. Epub 2019 Jun 6.

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

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http://dx.doi.org/10.1016/S0140-6736(19)30214-4DOI Listing
June 2019

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.

Neurology 2019 04 8;92(15):e1773-e1785. Epub 2019 Mar 8.

From Queen Square MRC Centre for Neuromuscular Diseases, Institute of Neurology (A.W., A.P., M.D., P.M.M., M.L., I.S., M.S., M.M.R., M.G.H., G.M.R.), Institute of Sport, Exercise and Health (P.H.), and Department of Statistical Science (G.B.), University College London; National Hospital for Neurology and Neurosurgery (E.D., K.J.), University College Hospitals, NHS Foundation Trust; Faculty of Health, Social Care & Education (M.D., G.M.R.), Kingston University/St George's University of London; Department of Psychology (A.S.), University of Surrey, Guildford; Charcot Marie Tooth United Kingdom (K.B.), Registered Charity Number 1112370; and Movelab (M.T.), Newcastle University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000007265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511083PMC
April 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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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4.

Neurology 2019 03 1;92(13):e1405-e1415. Epub 2019 Mar 1.

From the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453767PMC
March 2019

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.

Sci Rep 2019 03 5;9(1):3539. Epub 2019 Mar 5.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41598-019-40118-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401132PMC
March 2019

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

J Neurol Neurosurg Psychiatry 2019 02 16;90(2):243-245. Epub 2018 May 16.

Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317849DOI Listing
February 2019

Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes.

Cell Rep 2018 10;25(4):947-958.e4

Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neurology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Program in Neuroscience & Behavioral Disorders, Duke-NUS Medical School, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.09.083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275075PMC
October 2018

A simple supported tubulated bilayer system for evaluating protein-mediated membrane remodeling.

Chem Phys Lipids 2018 09 22;215:18-28. Epub 2018 Jul 22.

Department of Pharmacology, University of Michigan, United States. Electronic address:

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http://dx.doi.org/10.1016/j.chemphyslip.2018.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103888PMC
September 2018

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Neurology 2018 09 17;91(12):e1125-e1129. Epub 2018 Aug 17.

From the MRC Centre for Neuromuscular Diseases (J.M.M., M.R.B.E., C.D.J.S., T.A.Y., M.G.H., J.S.T., M.M.R.) and Neuroradiological Academic Unit (S.S.), UCL Institute of Neurology, London, UK; Carver College of Medicine (T.G., P.N., M.E.S.) and Department of Radiology (D.T.), University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000006214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161551PMC
September 2018

Membrane Transport at an Organelle Interface in the Early Secretory Pathway: Take Your Coat Off and Stay a While: Evolution of the metazoan early secretory pathway.

Bioessays 2018 07 9;40(7):e1800004. Epub 2018 May 9.

Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, 440 Henry Mall, Madison, WI, 53706, USA.

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http://dx.doi.org/10.1002/bies.201800004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166410PMC
July 2018

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4.

Sci Rep 2018 06 26;8(1):9714. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://www.nature.com/articles/s41598-018-27822-2
Publisher Site
http://dx.doi.org/10.1038/s41598-018-27822-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018793PMC
June 2018

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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http://dx.doi.org/10.3389/fneur.2018.00456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028608PMC
June 2018

In vivo assessment of muscle membrane properties in the sodium channel myotonias.

Muscle Nerve 2018 04 23;57(4):586-594. Epub 2017 Sep 23.

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

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http://dx.doi.org/10.1002/mus.25956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839928PMC
April 2018

Review of the Diagnosis and Treatment of Periodic Paralysis.

Muscle Nerve 2018 04 29;57(4):522-530. Epub 2017 Nov 29.

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

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http://dx.doi.org/10.1002/mus.26009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867231PMC
April 2018

A diagnostic conundrum.

Pract Neurol 2018 04 23;18(2):137-142. Epub 2018 Jan 23.

Department of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases, National Hospital of Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513759PMC
April 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Neuromuscul Disord 2017 Nov 10;27(11):1054-1064. Epub 2017 Jul 10.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173013
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http://dx.doi.org/10.1016/j.nmd.2017.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678293PMC
November 2017

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

J Pediatr 2017 09 26;188:181-185.e6. Epub 2017 Jun 26.

Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.081DOI Listing
September 2017

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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http://dx.doi.org/10.1212/NXG.0000000000000168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975PMC
August 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 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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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in gene.

Neurology 2017 Apr 22;88(16):1520-1527. Epub 2017 Mar 22.

From the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395072PMC
April 2017

Familial childhood-onset progressive cerebellar syndrome associated with the mutation.

Neurol Genet 2017 Apr 27;3(2):e145. Epub 2017 Mar 27.

Department of Neurosciences (F.J.), King's College Hospital, London; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience (F.J., H.H., M.G.H.), UCL Institute of Neurology; MRC Computational Genomics Analysis and Training Programme (K.F., D.S., A.H.), University of Oxford; Central Manchester University Hospitals (H.K.); and NIHR UCLH Biomedical Research Centre (S.M.S.), Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367920PMC
April 2017

De novo KCNA2 mutations cause hereditary spastic paraplegia.

Ann Neurol 2017 02;81(2):326-328

Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.24866DOI Listing
February 2017

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

J Neuropathol Exp Neurol 2016 12;75(12):1171-1178

From the Department of Neurology, Southmead Hospital, Bristol, UK (SB); Department of Neuropathology, Royal Victoria Hospital, N. Ireland, Belfast, Northern Ireland (EGH); UCL Institute of Neurology, Queen Square, London, UK (QG, HH, JLH); MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK (MP, RQ, MGH); Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK (SJ); Department of Cellular Pathology, Queen Elizabeth Hospital, Birmingham, UK (EC); King's College London, MRC London Neurodegenerative Diseases Brain Bank, London, UK (SA-S); Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK (CAS); and Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK (DB)

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http://dx.doi.org/10.1093/jnen/nlw096DOI Listing
December 2016

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

Neurogenetics 2016 10 8;17(4):245-249. Epub 2016 Jun 8.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s10048-016-0486-0DOI Listing
October 2016

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.

From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545PMC
October 2016

In vivo assessment of muscle membrane properties in myotonic dystrophy.

Muscle Nerve 2016 08 24;54(2):249-57. Epub 2016 May 24.

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

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http://dx.doi.org/10.1002/mus.25025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940227PMC
August 2016

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Neurology 2016 Apr 10;86(15):1408-1416. Epub 2016 Feb 10.

From NEMO Clinical Center (V.A.S.) and IRCCS Policlinico San Donato (G.M.), University of Milan, Italy; MRC Centre for Neuromuscular Diseases (J.B., M.G.H.), UCL Institute of Neurology, Queen Square, London, UK; University of Rochester (M.P.M., P.C.S., B.H., R.T., S.P., E.C., R.C.G.), NY; Ohio State University (J.K.), Columbus; UCLA Medical Center (P.S.), Los Angeles, CA; University of California San Francisco School of Medicine (J.W.R.); Brigham and Women's Hospital (A.A.), Boston, MA; UT Southwestern Medical Center (S.C.C., J.T.), Dallas, TX; University of Kansas Medical Center (R.B.), Kansas City; Mayo Clinic (B.C.), Rochester MN; Columbia University (H.M.), New York, NY; Washington University (A.P.), St. Louis, MO; and the Office of Clinical Research (R.C.), NINDS, Bethesda, MD.

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http://dx.doi.org/10.1212/WNL.0000000000002416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831040PMC
April 2016

Targeting protein homeostasis in sporadic inclusion body myositis.

Sci Transl Med 2016 Mar;8(331):331ra41

Medical Research Council (MRC) Centre for Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London WC1N 3BG, UK. Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043094PMC
http://dx.doi.org/10.1126/scitranslmed.aad4583DOI Listing
March 2016

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

Brain 2016 Feb;139(Pt 2):380-91

3 Institute of Neurology, University College London and MRC Centre for Neuromuscular Disease, Queen Square, UK 5 Neurogenetics Unit, National Hospital for Neurology, Queen Square, UK.

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http://dx.doi.org/10.1093/brain/awv380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795516PMC
February 2016

Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Eur Radiol 2016 Jan 21;26(1):130-7. Epub 2015 May 21.

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

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http://dx.doi.org/10.1007/s00330-015-3801-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666274PMC
January 2016

Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations.

Neuroimage 2016 Jan 3;124(Pt A):43-53. Epub 2015 Sep 3.

Virginia Tech Carilion Research Institute, Roanoke, VA 24016, USA; Bradley Department of Electrical and Computer Engineering, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2015.08.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655917PMC
January 2016

Sar1 GTPase Activity Is Regulated by Membrane Curvature.

J Biol Chem 2016 Jan 6;291(3):1014-27. Epub 2015 Nov 6.

From the Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin 53706,

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http://dx.doi.org/10.1074/jbc.M115.672287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714187PMC
January 2016

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology 2016 Jan 11;86(2):161-9. Epub 2015 Dec 11.

From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685PMC
January 2016

The Role of Calcium Channels in Epilepsy.

Cold Spring Harb Perspect Med 2016 Jan 4;6(1):a022723. Epub 2016 Jan 4.

UCL-Institute of Neurology, MRC Centre for Neuromuscular Diseases, Queen Square, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1101/cshperspect.a022723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691803PMC
January 2016

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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http://dx.doi.org/10.1001/jamaneurol.2015.2338DOI Listing
December 2015

Genetic advances in sporadic inclusion body myositis.

Curr Opin Rheumatol 2015 Nov;27(6):586-94

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

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http://dx.doi.org/10.1097/BOR.0000000000000213DOI Listing
November 2015

Mitochondrial disorders: disease mechanisms and therapeutic approaches.

Discov Med 2015 Nov;20(111):325-31

MRC Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom.

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November 2015

Active specific immunotherapy: using tumor heterogeneity to successfully fight cancer.

Hum Vaccin Immunother 2014 ;10(11):3286-96

a Emeritus; Vaccinogen, Inc. ; Frederick , MD USA.

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http://dx.doi.org/10.4161/hv.28886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514058PMC
October 2015

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Kidney Int 2015 Mar 10;87(3):610-22. Epub 2014 Sep 10.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ki.2014.297DOI Listing
March 2015

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics.

Lancet Neurol 2015 Jan;14(1):13-4

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70239-XDOI Listing
January 2015

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Brain 2014 Dec 3;137(Pt 12):3200-12. Epub 2014 Oct 3.

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

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http://dx.doi.org/10.1093/brain/awu279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240292PMC
December 2014

Ongoing developments in sporadic inclusion body myositis.

Curr Rheumatol Rep 2014 Dec;16(12):477

MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Box 102, 8-11 Queen Square, London, WC1N 3BG, UK,

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http://dx.doi.org/10.1007/s11926-014-0477-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4233319PMC
December 2014

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

Pediatrics 2014 Nov 13;134(5):e1447-50. Epub 2014 Oct 13.

Departments of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, and Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, and Clinical Neuroscience Division, IOP, King's College, London, United Kingdom

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http://dx.doi.org/10.1542/peds.2013-3727DOI Listing
November 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

Curr Opin Neurol 2014 Oct;27(5):583-90

aDepartment of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London bNational Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000127DOI Listing
October 2014

Innovative care model for patients with complex muscle diseases.

Curr Opin Neurol 2014 Oct;27(5):607-13

aMRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery bDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/WCO.0000000000000132DOI Listing
October 2014