Richa Sud

Richa Sud

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Richa Sud

Richa Sud

Publications by authors named "Richa Sud"

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Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

J Neurol Neurosurg Psychiatry 2019 02 16;90(2):243-245. Epub 2018 May 16.

Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317849DOI Listing
February 2019

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4.

Sci Rep 2018 06 26;8(1):9714. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://www.nature.com/articles/s41598-018-27822-2
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http://dx.doi.org/10.1038/s41598-018-27822-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018793PMC
June 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

J Pediatr 2017 09 26;188:181-185.e6. Epub 2017 Jun 26.

Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.081DOI Listing
September 2017

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Neurology 2013 Apr 20;80(16):1472-5. Epub 2013 Mar 20.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and University College London Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1212/WNL.0b013e31828cf8d0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662361PMC
April 2013

Sodium and chloride channelopathies with myositis: coincidence or connection?

Muscle Nerve 2011 Aug 22;44(2):283-8. Epub 2011 Jun 22.

Medical Research Council Centre for Neuromuscular Disease, UCL, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1002/mus.22120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136616PMC
August 2011

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Ann Neurol 2011 Feb;69(2):328-40

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London, Institute of Neurology London, UK.

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http://dx.doi.org/10.1002/ana.22238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051421PMC
February 2011

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

Arch Neurol 2011 Jan;68(1):127-9

Institute of Neurology and Medical Research Council Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London, London, England.

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http://dx.doi.org/10.1001/archneurol.2010.347DOI Listing
January 2011

Transcriptional regulation by Barhl1 and Brn-3c in organ-of-Corti-derived cell lines.

Brain Res Mol Brain Res 2005 Nov 13;141(2):174-80. Epub 2005 Oct 13.

Molecular Audiology Group, Centre for Auditory Research, UCL Ear Institute, 332 Gray's Inn Rd, London WC1X 8EE, UK.

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http://dx.doi.org/10.1016/j.molbrainres.2005.09.007DOI Listing
November 2005

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity.

Biochem Biophys Res Commun 2004 Nov;324(1):372-81

Molecular Audiology, Department of Immunology and Molecular Pathology, UCL Centre for Auditory Research, Windeyer Institute of Medical Sciences, University College London Medical School, The Windeyer Building, Cleveland Street, London W1T 4JF, UK.

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http://dx.doi.org/10.1016/j.bbrc.2004.09.074DOI Listing
November 2004