Publications by authors named "Rita Horvath"

100Publications

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.

Acta Neuropathol Commun 2020 Oct 15;8(1):165. Epub 2020 Oct 15.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1186/s40478-020-01043-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559459PMC
October 2020

Ataxia telangiectasia: what the neurologist needs to know.

Pract Neurol 2020 Oct;20(5):404-414

Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, UK

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http://dx.doi.org/10.1136/practneurol-2019-002253DOI Listing
October 2020

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

J Neuromuscul Dis 2020 Jul 31. Epub 2020 Jul 31.

Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.3233/JND-200546DOI Listing
July 2020

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

Mitochondrial Diseases: A Diagnostic Revolution.

Trends Genet 2020 09 13;36(9):702-717. Epub 2020 Jul 13.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council (MRC) Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2020.06.009DOI Listing
September 2020

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

J Neurol 2020 Jul 12. Epub 2020 Jul 12.

Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1007/s00415-020-10059-3DOI Listing
July 2020

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

J Mol Diagn 2020 Sep 30;22(9):1205-1215. Epub 2020 Jun 30.

Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; Universitat Pompeu Fabra, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477492PMC
September 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

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development.

Lancet Neurol 2020 06 26;19(6):522-532. Epub 2020 May 26.

Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Medicine, Ottawa Research Institute, Ottawa, ON, Canada; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University Medical Center Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30028-4DOI Listing
June 2020

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Clin Genet 2020 Aug 10;98(2):147-154. Epub 2020 Jun 10.

Paediatric Neurology, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.

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http://dx.doi.org/10.1111/cge.13771DOI Listing
August 2020

-related autosomal recessive encephalopathy in 2 Turkish children.

Neurol Genet 2020 Feb 10;6(1):e392. Epub 2020 Jan 10.

Pediatric Neurology Clinic (A.Y.), Private Office, Diyarbakir, Turkey; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Canada; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; John Walton Muscular Dystrophy Research Centre (A.T.), Institute of Genetic Medicine, Newcastle University, UK; Dokuz Eylul University (S.H., E.S., E.Y., Y.O.), Izmir International Biomedicine and Genome Institute, Turkey; Faculty of Medicine (S.H., U.Y., A.I.P., P.E.), Department of Paediatric Neurology, Dokuz Eylul University, Izmir, Turkey; Faculty of Medicine (S.G.), Turgut Ozal Research Center, Department of Paediatric Neurology, Inonu University, Malatya, Turkey; CNAG-CRG (S.L., H.L., S.B.), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Spain; Universitat Pompeu Fabra (S.L.), Barcelona, Spain; Koc University (A.Y.), School of Medicine, Medical Student, Istanbul, Turkey; Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK; Izmir Biomedicine and Genome Center (Y.O.), Dokuz Eylul University Health Campus, Turkey; and Faculty of Medicine (Y.O.), Department of Medical Biology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1212/NXG.0000000000000392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975172PMC
February 2020

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

J Neurol Sci 2020 Apr 23;411:116707. Epub 2020 Jan 23.

Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116707DOI Listing
April 2020

Dysregulation of Mitochondrial Ca Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.

Cell Rep 2019 10;29(5):1274-1286.e6

MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.09.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007691PMC
October 2019

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

J Neuromuscul Dis 2019 ;6(3):377-384

Izmir International Biomedicine and Genom Institute, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.3233/JND-190383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736676PMC
February 2020

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Front Neurol 2019 7;10:470. Epub 2019 May 7.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.3389/fneur.2019.00470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514157PMC
May 2019

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Mol Cell Probes 2019 04 22;44:14-20. Epub 2019 Jan 22.

Medical Genetics Center, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2019.01.003DOI Listing
April 2019

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Int J Mol Sci 2018 Dec 17;19(12). Epub 2018 Dec 17.

John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.3390/ijms19124072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320960PMC
December 2018

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Neurobiol Dis 2019 04 20;124:218-229. Epub 2018 Nov 20.

Leibniz-Institut für Analytische Wissenschaften, ISAS, e.V. Dortmund, 44227, Dortmund, Germany; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, 52074, Germany; Pediatric Neurology, University Childrens Hospital, University of Duisburg-Essen, Faculty of Medicine, Essen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.11.019DOI Listing
April 2019

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.

Hum Mol Genet 2019 03;28(5):796-803

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

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381312PMC
March 2019

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Neuromuscul Disord 2018 11 5;28(11):961-964. Epub 2018 Sep 5.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.007DOI Listing
November 2018

Mitochondrial DNA transcription and translation: clinical syndromes.

Essays Biochem 2018 07 20;62(3):321-340. Epub 2018 Jul 20.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K.

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http://dx.doi.org/10.1042/EBC20170103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056718PMC
July 2018

First-line genomic diagnosis of mitochondrial disorders.

Nat Rev Genet 2018 07;19(7):399-400

NIHR Translational BioResource in Common and Rare Diseases, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41576-018-0022-1DOI Listing
July 2018

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
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000005566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962916PMC
May 2018

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Neuromolecular Med 2018 06 25;20(2):205-214. Epub 2018 Apr 25.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://link.springer.com/10.1007/s12017-018-8490-1
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http://dx.doi.org/10.1007/s12017-018-8490-1DOI Listing
June 2018

mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Neurol Clin Pract 2017 Oct;7(5):451-454

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Centre for Life (MJK, HES, RH, PFC), and Institute of Neuroscience (SRJ, MRB), Newcastle University; Departments of Neurology (MJK, SRJ, HES, RH, PFC, MRB) and Neurophysiology (SRJ, MRB), Royal Victoria Infirmary, Newcastle Upon Tyne; and Department of Clinical Neurosciences (MJK, PFC), University Neurology Unit, Cambridge Biomedical Campus, UK.

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http://dx.doi.org/10.1212/CPJ.0000000000000346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874467PMC
October 2017

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

The role of tRNA synthetases in neurological and neuromuscular disorders.

FEBS Lett 2018 03 1;592(5):703-717. Epub 2018 Feb 1.

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

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http://dx.doi.org/10.1002/1873-3468.12962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873386PMC
March 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genet Med 2018 04 26;20(4):444-451. Epub 2017 Oct 26.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/gim.2017.125DOI Listing
April 2018

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

Proteomics Clin Appl 2018 03 23;12(2). Epub 2017 Oct 23.

Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.

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http://dx.doi.org/10.1002/prca.201700073DOI Listing
March 2018

Monitoring clinical progression with mitochondrial disease biomarkers.

Brain 2017 Oct;140(10):2530-2540

Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1093/brain/awx168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841218PMC
October 2017

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology 2017 Aug 2;89(9):927-935. Epub 2017 Aug 2.

From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965PMC
August 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Neuromuscul Disord 2017 May 14;27(5):473-476. Epub 2017 Feb 14.

Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.005DOI Listing
May 2017

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

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

JAMA Ophthalmol 2017 Feb;135(2):167-169

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom2Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.4985DOI Listing
February 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 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

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

J Neuromuscul Dis 2016 08;3(3):363-379

Wellcome Trust Mitochondrial Research Centre and the John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.3233/JND-160178DOI Listing
August 2016

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

JAMA Neurol 2017 01;74(1):11-13

Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom3Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.

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http://dx.doi.org/10.1001/jamaneurol.2016.4506DOI Listing
January 2017

The swinging pendulum of biomarkers in mitochondrial disease: The role of FGF21.

Neurology 2016 11 28;87(22):2286-2287. Epub 2016 Oct 28.

From the Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine (H.E.S., R.H.) and Institute of Neuroscience (R.W.T.), Newcastle University, Newcastle upon Tyne; and John Walton Muscular Dystrophy Research Centre (H.E.S., R.H.), Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003383DOI Listing
November 2016

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Neurol Genet 2016 Aug 23;2(4):e82. Epub 2016 Jun 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972142PMC
August 2016

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

Mol Cell Biol 2016 08 29;36(16):2132-40. Epub 2016 Jul 29.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada

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http://dx.doi.org/10.1128/MCB.00066-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968213PMC
August 2016

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Hum Mol Genet 2016 07 18;25(14):2985-2996. Epub 2016 May 18.

Institute of Genetic Medicine, Newcastle University, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/hmg/ddw149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591PMC
July 2016

Emerging therapies for mitochondrial disorders.

Brain 2016 06 3;139(Pt 6):1633-48. Epub 2016 May 3.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK MRC-Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, CB2 0QQ, UK

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http://dx.doi.org/10.1093/brain/aww081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892756PMC
June 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

Mitochondrial dysfunction in liver failure requiring transplantation.

J Inherit Metab Dis 2016 05 6;39(3):427-436. Epub 2016 Apr 6.

Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre and Wellcome Trust Centre for Mitochondrial Research, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s10545-016-9927-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851707PMC
May 2016

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain 2016 06 25;139(Pt 6):e33. Epub 2016 Mar 25.

Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK

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http://dx.doi.org/10.1093/brain/aww051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892749PMC
June 2016

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing.

EMBO Mol Med 2016 Mar;8(3):173-5

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

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http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201506
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http://dx.doi.org/10.15252/emmm.201506050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772956PMC
March 2016

Mitochondrial pathology in progressive cerebellar ataxia.

Cerebellum Ataxias 2015 4;2:16. Epub 2015 Dec 4.

Academic Department of Neurosciences, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF UK.

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http://dx.doi.org/10.1186/s40673-015-0035-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670505PMC
December 2015

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Neurology 2015 Dec 30;85(22):1964-71. Epub 2015 Oct 30.

From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Department of Neurology (J.L.A.), Dartmouth Hitchcock Clinic, Geisel School of Medicine, Hanover, NH; The Picower Institute for Learning and Memory (J.T.L.), Department of Biology and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA; and Dr. John T. Macdonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, Miami, FL.

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http://www.neurology.org/content/early/2015/10/30/WNL.000000
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http://www.neurology.org/content/85/22/1964.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000218
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http://dx.doi.org/10.1212/WNL.0000000000002185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664120PMC
December 2015

SCP2 mutations and neurodegeneration with brain iron accumulation.

Neurology 2015 Nov 23;85(21):1909-11. Epub 2015 Oct 23.

From the Institute of Genetic Medicine (R.H., D.L.-S., K.D., J.D., M.K., A.P., P.F.C.), Newcastle University, Newcastle upon Tyne; and The Walton Centre NHS Trust (N.F.), Liverpool, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662697PMC
November 2015

Epilepsy in adults with mitochondrial disease: A cohort study.

Ann Neurol 2015 Dec 17;78(6):949-57. Epub 2015 Nov 17.

Wellcome Trust Center for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737309PMC
December 2015

Prevalence of neurogenetic disorders in the North of England.

Neurology 2015 Oct 4;85(14):1195-201. Epub 2015 Sep 4.

From the Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607600PMC
October 2015