Mary G Sweeney

Mary G Sweeney

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Mary G Sweeney

Mary G Sweeney

Publications by authors named "Mary G Sweeney"

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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

The frequency of the m.1555A>G () variant in UK patients with suspected mitochondrial deafness.

Hearing Balance Commun 2016;14(2):101-102. Epub 2016 May 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.3109/21695717.2016.1151124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886845PMC
May 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

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

J Peripher Nerv Syst 2015 Jun;20(2):67-71

MRC Centre for Neuromuscular diseases, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/jns.12117DOI Listing
June 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

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Neurobiol Aging 2015 Mar 20;36(3):1600.e5-8. Epub 2014 Dec 20.

Reta Lila Weston Institute, UCL Institute of Neurology, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.017DOI Listing
March 2015

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Neurobiol Aging 2015 Feb 27;36(2):1221.e1-6. Epub 2014 Aug 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321829PMC
February 2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Lancet Neurol 2015 Feb 5;14(2):174-82. Epub 2015 Jan 5.

Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address:

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http://idipaz.es/NoticiasAdjuntos/231_The%20Lancet%20Neurolo
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http://linkinghub.elsevier.com/retrieve/pii/S147444221470321
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http://dx.doi.org/10.1016/S1474-4422(14)70321-7DOI Listing
February 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

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

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
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http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 2014

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Neurobiol Aging 2014 Feb 13;35(2):443.e1-3. Epub 2013 Sep 13.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077PMC
February 2014

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Neurology 2014 Jan 20;82(4):292-9. Epub 2013 Dec 20.

From the Departments of Neurodegenerative Disease (D.J.H.M., P.M., E.J.W., S.M., S.J.T.) and Molecular Neuroscience (H.H.), UCL Institute of Neurology, London; MRC Prion Unit (M.P., J.B., T.C., G.A.), London; and Neurogenetics Unit (J.H., J.M.P., E.M., A.H., M.G.S., H.H.), National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK.

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http://www.neurology.org/content/82/4/292.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000006
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http://dx.doi.org/10.1212/WNL.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929197PMC
January 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

J Neurol Neurosurg Psychiatry 2013 Aug 25;84(8):936-8. Epub 2013 Jan 25.

Wellcome Trust Centre for Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303528
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http://dx.doi.org/10.1136/jnnp-2012-303528DOI Listing
August 2013

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.

Neuromuscul Disord 2013 Jan 24;23(1):52-5. Epub 2012 Aug 24.

Department of Neurosciences, Psychiatry and Anestesiology, University of Messina, Messina, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661200557
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http://dx.doi.org/10.1016/j.nmd.2012.07.005DOI Listing
January 2013

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

J Neurol Neurosurg Psychiatry 2013 Jan 29;84(1):107-10. Epub 2012 Aug 29.

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

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http://dx.doi.org/10.1136/jnnp-2012-303232DOI Listing
January 2013

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Hum Mutat 2012 Sep 2;33(9):1352-8. Epub 2012 Jul 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/humu.22118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394605PMC
September 2012

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

J Neurol Sci 2012 Jul 18;318(1-2):178-80. Epub 2012 Apr 18.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X120016
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http://dx.doi.org/10.1016/j.jns.2012.03.019DOI Listing
July 2012

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

J Med Genet 2011 Sep 4;48(9):610-7. Epub 2011 Mar 4.

1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.088328DOI Listing
September 2011

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Mov Disord 2011 Apr 1;26(5):905-9. Epub 2011 Feb 1.

Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.23593
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http://dx.doi.org/10.1002/mds.23593DOI Listing
April 2011

Huntington's disease phenocopies are clinically and genetically heterogeneous.

Mov Disord 2008 Apr;23(5):716-20

Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.21915DOI Listing
April 2008

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

Mov Disord 2005 Nov;20(11):1521-3

National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.20529
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http://dx.doi.org/10.1002/mds.20529DOI Listing
November 2005

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

Mov Disord 2005 Sep;20(9):1115-9

Department of Molecular Neurosciences, Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.20564DOI Listing
September 2005

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study.

Brain 2002 Oct;125(Pt 10):2248-56

MRC Clinical Sciences Centre, and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1093/brain/awf237DOI Listing
October 2002