Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis
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Article Information
- Received September 30, 2020
- Accepted January 6, 2021
- First Published January 29, 2021.
Article Versions
- Previous version (January 29, 2021 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Laura Cechin, MBBS, MRCP*,
- Jihad Gasmelseed, MBBS, MRCP*,
- James Bashford, MRCP, PhD,
- Dorota Rowczenio, PhD,
- Mary M. Reilly, MD, FRCP, FRCPI,
- Julian D. Gillmore, MBBS, MD, PhD and
- Ester Coutinho, MD, DPhil
- Laura Cechin, MBBS, MRCP*,
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- Jihad Gasmelseed, MBBS, MRCP*,
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- James Bashford, MRCP, PhD,
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(1) Novartis Gene Therapies, travel to attend international conference.
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(1) Medical Research Council, MR/P000983/1, Clinical Research Training Fellow, 3 years
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(1) Motor Neurone Disease Association, (2) Rosetrees Trust
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- Dorota Rowczenio, PhD,
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- Mary M. Reilly, MD, FRCP, FRCPI,
Commercial 1. Inflectis scientific advisory board
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(1) Brain, Editorial Board, appointed 2008; (2) Neuromuscular Disorders, Editorial Board, appointed 2005; (3) editorial board JNNP (current)
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(1)Commercial entity: Occasional consultancy for Alynam, Inflectis, IONIS and Akcea
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NIH grant U54NS065712 MRC centre grant G0601943
 MDA grant (MDA510281) Muscle MRI in Charcot Marie Tooth disease (PI) 2017-2020 CLRN grant to support NIH RDCRC natural history study (PI) (2011-2012)  MRC - Using Next Generation Sequencing to investigate neuromuscular disorders. Project grant (CO- PI) (2011-2014)  Wellcome Trust  A next generation sequencer for the Institute of Neurology. Equipment Grant (CO-PI) (2011  2016)  UCL CBRC  A next generation sequencer for the Institute of Neurology. Capital bid (CO-PI) (2011-2016)  Ipsen training grant for Dr. Alex Rossor (2010-2011).  NIHR Doctoral Research Training Fellowship for Dr. Taibish Saifee ÂThe clinical spectrum and pathophysiology of tremor in peripheral neuropathy (Supervisor) (2010-2013)  Muscular Dystrophy Association (US) grant ÂGenetic Modifiers of the CMT1A phenotype (Mentor on development grant for Henry Houlden) (2009-2012)  Muscular dystrophy campaign grant ÂStrengthening Hip Flexors to improve walking distance in people with Charcot-Marie-Tooth disease (PI) (2008-2010)  UCLH / UCL Comprehensive Biomedical Research Centre ÂInvestigation of the genes responsible for Charcot Marie tooth disease and related disorders in a UK population and development/implementation of diagnostic guidelines and genetic testing (PI) (2008-2010)  CRDC project grant ÂPathomechanism and possible treatment strategies for distal hereditary neuropathies secondary to HSP27 mutations (CO-PI) (2008-2010)  Muscular Dystrophy campaign centre grant ÂCombined Dubowitz and Institute of Neurology neuromuscular centre grant (CO-PI) (2008-2011)
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- Julian D. Gillmore, MBBS, MD, PhD and
Expert Advisory Board member for Eidos Therapeutics, Alnylam Pharmaceuticals, Ionis and Prothena Inc.
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Speaker honoraria from Alnylam and Eidos
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Speaker at Alnylam and Eidos sponsored meetings
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- Ester Coutinho, MD, DPhil
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(1) UCB Pharma - Named researcher in a UCB Pharma-funded grant
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(1) MRC Centre for Neurodevelopmental disorders - Clinical fellowship
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- King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
- Correspondence
Dr. Coutinho ester.coutinho{at}kcl.ac.uk
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