Publications by authors named "Helen Griffin"

59Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.

Life Sci Alliance 2020 08 11;3(8). Epub 2020 Jun 11.

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

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http://dx.doi.org/10.26508/lsa.202000678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295610PMC
August 2020

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Mitochondrion 2019 05 9;46:302-306. Epub 2018 Aug 9.

Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; The Wellcome Centre for Mitochondrial Research, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509278PMC
May 2019

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo mutation.

Neurology 2018 05 2;90(21):e1842-e1848. Epub 2018 May 2.

From the Wellcome Centre for Mitochondrial Research (G.S.G.), Institute of Genetic Medicine (B.B., M.J., J.S.M., J.D., H.G., H.L., P.F.C., A.R., R.H.), and Institute of Neuroscience (M.R.B., R.G.W., G.S.G.), Newcastle University, Newcastle upon Tyne, UK; Leibniz-Institute für Analytische Wissenschaften-ISAS-e.V. (V.P., A.R.), Dortmund, Germany; Departments of Neurology (M.R.B., J.A.L.M., G.S.G.) and Clinical Neurophysiology (M.R.B., R.G.W., R.H.), Royal Victoria Infirmary, Newcastle upon Tyne; Department of Cellular and Molecular Physiology (J.O., L.E.S.), Institute of Translational Medicine, University of Liverpool; Department of Clinical Neurosciences (P.F.C.), University of Cambridge, Cambridge Biomedical Campus, UK; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; and Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

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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.0000000000005566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962916PMC
May 2018

Genetic heterogeneity of motor neuropathies.

Neurology 2017 Mar 1;88(13):1226-1234. Epub 2017 Mar 1.

From the MRC Centre for Neuromuscular Diseases and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., H.G., T.E., J.D., A.B., V.B., H.S., E.F., A.P., H.L., P.F.C., R.H.), and Institute of Neuroscience (R.G.W., J.M.), Newcastle University, Newcastle upon Tyne; Bristol Genetics Laboratory (T.A., M.G., N.F.), Pathology Sciences, North Bristol NHS Trust, Southmead Hospital; Medical Genetic Center (S.K.), Munich, Germany; Department of Paediatric Neurology (V.R.), Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hospitals NHS Trust; Nuffield Department of Clinical Neurosciences (E.F.), University of Oxford; and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373778PMC
March 2017

Phenotypic convergence of Menkes and Wilson disease.

Neurol Genet 2016 Dec 17;2(6):e119. Epub 2016 Nov 17.

John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114694PMC
December 2016

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Neurol Genet 2016 Apr 3;2(2):e59. Epub 2016 Mar 3.

Wellcome Trust Centre for Mitochondrial Research (D.L.-S., H.G., J.D., A.P., R.W.T., P.Y.-W.-M., R.H., P.F.C.), Institute of Genetic Medicine (D.L.-S., H.G., J.D., A.P., P.Y.-W.-M., R.H.), and Institute of Neuroscience (R.W.T.), Newcastle University, Newcastle upon Tyne, United Kingdom; Howard Hughes Medical Institute (K.J.K., D.T., V.K.M.), Department of Molecular Biology, Massachusetts General Hospital, Boston, MA; Department of Paediatric Neurology (A.-M.C., K.P.), The General Infirmary, Leeds, United Kingdom; Department of Child Neurology (V.R.), The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom; Department of Systems Biology (V.K.M.), Harvard Medical School, Boston, MA; Broad Institute (V.K.M.), Cambridge, MA; Department of Clinical Neurosciences (P.F.C.), University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), Cambridge Biomedical Campus, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830195PMC
April 2016

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

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http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e391. Epub 2015 Jun 10.

1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/brain/awv159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620510PMC
November 2015

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

J Neurol 2015 Jul 10;262(7):1673-7. Epub 2015 May 10.

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

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http://link.springer.com/10.1007/s00415-015-7755-y
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http://dx.doi.org/10.1007/s00415-015-7755-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503877PMC
July 2015

Phenotypic variability of TRPV4 related neuropathies.

Neuromuscul Disord 2015 Jun 18;25(6):516-21. Epub 2015 Mar 18.

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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http://dx.doi.org/10.1016/j.nmd.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778PMC
June 2015

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.

Brain 2015 Oct 4;138(Pt 10):e384. Epub 2015 Apr 4.

Institute of Genetic Medicine, Newcastle University, NE1 3BZ, UK

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http://dx.doi.org/10.1093/brain/awv088DOI Listing
October 2015

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Neurology 2015 Apr 1;84(17):1818-20. Epub 2015 Apr 1.

From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000151
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http://dx.doi.org/10.1212/WNL.0000000000001517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424129PMC
April 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Front Genet 2015 6;6:21. Epub 2015 Feb 6.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki Helsinki, Finland ; Department of Medical Genetics, Haartman Institute, University of Helsinki Helsinki, Finland.

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http://dx.doi.org/10.3389/fgene.2015.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319469PMC
February 2015

SPG7 mutations are a common cause of undiagnosed ataxia.

Neurology 2015 Mar 13;84(11):1174-6. Epub 2015 Feb 13.

From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371411PMC
March 2015

Increased yield of exome sequencing by off-target mitochondrial DNA analysis.

Ann Neurol 2015 Mar 14;77(3):553. Epub 2015 Feb 14.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24360DOI Listing
March 2015

Dual proteolytic pathways govern glycolysis and immune competence.

Cell 2014 Dec;159(7):1578-90

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297473PMC
December 2014

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Brain 2015 Feb 12;138(Pt 2):276-83. Epub 2014 Dec 12.

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

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http://dx.doi.org/10.1093/brain/awu348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819PMC
February 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

JAMA Neurol 2015 Jan;72(1):106-11

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan.

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http://dx.doi.org/10.1001/jamaneurol.2014.1753DOI Listing
January 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Genet Med 2014 Dec 5;16(12):962-71. Epub 2014 Jun 5.

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

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http://dx.doi.org/10.1038/gim.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251PMC
December 2014

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.

Br J Ophthalmol 2014 May 23;98(5):711-3. Epub 2014 Jan 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, , Newcastle upon Tyne, Tyne and Wear, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995215PMC
May 2014

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

J Neurogenet 2013 Dec 4;27(4):176-82. Epub 2013 Nov 4.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.3109/01677063.2013.831094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038496PMC
December 2013

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

Arch Neurol 2012 Oct;69(10):1351-4

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/archneurol.2012.1472DOI Listing
October 2012

Bovine jugular vein as right ventricle-to-pulmonary artery valved conduit.

J Heart Valve Dis 2002 Mar;11(2):242-7; discussion 248

Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

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March 2002