Publications by authors named "Andreea Manole"

32Publications

Adrenaline induces calcium signal in astrocytes and vasoconstriction via activation of monoamine oxidase.

Free Radic Biol Med 2020 Nov 30;159:15-22. Epub 2020 Jul 30.

Cell Physiology and Pathology Laboratory, Orel State University, Orel, 302026, Russia; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queens Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2020.07.011DOI Listing
November 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

Tyrosyl radical in haemoglobin and haptoglobin-haemoglobin complex: how does haptoglobin make haemoglobin less toxic?

J Biomed Res 2019 May;34(4):281-291

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.7555/JBR.33.20180084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7386409PMC
May 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

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

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

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

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

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

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

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

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

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.

Mol Cell Biochem 2018 Mar 23;440(1-2):147-156. Epub 2017 Aug 23.

Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, 625021, India.

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http://dx.doi.org/10.1007/s11010-017-3163-1DOI Listing
March 2018

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

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.

J Clin Med 2017 May 5;6(5). Epub 2017 May 5.

Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India.

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http://www.mdpi.com/2077-0383/6/5/52
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http://dx.doi.org/10.3390/jcm6050052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447943PMC
May 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

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Neurogenetics 2017 01 22;18(1):63-67. Epub 2016 Dec 22.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1007/s10048-016-0505-1DOI Listing
January 2017

Analysis of the prion protein gene in multiple system atrophy.

Neurobiol Aging 2017 01 3;49:216.e15-216.e18. Epub 2016 Oct 3.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156473PMC
January 2017

Next-generation sequencing in neuromuscular diseases.

Curr Opin Neurol 2016 10;29(5):527-36

aDepartment of Molecular NeurosciencebMRC Centre for Neuromuscular Diseases.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082606PMC
http://dx.doi.org/10.1097/WCO.0000000000000374DOI Listing
October 2016

Severe axonal neuropathy is a late manifestation of SPG11.

J Neurol 2016 Nov 20;263(11):2278-2286. Epub 2016 Aug 20.

Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00415-016-8254-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065903PMC
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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 2016

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

J Neurol 2015 Aug;262(8):1976

Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens Medical School, 74 Vas. Sophias Ave., 11528, Athens, Greece,

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http://link.springer.com/10.1007/s00415-015-7846-9
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http://dx.doi.org/10.1007/s00415-015-7846-9DOI Listing
August 2015

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

J Neurol 2015 Aug 6;262(8):1972-5. Epub 2015 Jun 6.

Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens Medical School, 74 Vas. Sophias Ave., 11528, Athens, Greece,

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http://link.springer.com/10.1007/s00415-015-7800-x
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http://dx.doi.org/10.1007/s00415-015-7800-xDOI Listing
August 2015

Resonance Raman Spectra of Five-Coordinate Heme-Nitrosyl Cytochromes c': Effect of the Proximal Heme-NO Environment.

Biochemistry 2015 Jun 22;54(21):3320-7. Epub 2015 May 22.

‡School of Biological Sciences, University of Essex, Wivenhoe Park, Colchester CO4 3SQ, U.K.

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http://dx.doi.org/10.1021/acs.biochem.5b00227DOI Listing
June 2015

Conformational control of the binding of diatomic gases to cytochrome c'.

J Biol Inorg Chem 2015 Jun 20;20(4):675-86. Epub 2015 Mar 20.

School of Biological Sciences, University of Essex, Wivenhoe Park, Colchester, Essex, CO4 3SQ, UK.

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http://dx.doi.org/10.1007/s00775-015-1253-7DOI Listing
June 2015

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Curr Opin Neurol 2014 Oct;27(5):506-14

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, Institute of Neurology, London, WC1N 3BG, 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.0000000000000133DOI Listing
October 2014