Publications by authors named "Reema Paudel"

14Publications

DYT6 Dystonia: A Neuropathological Study.

Neurodegener Dis 2016 27;16(3-4):273-8. Epub 2015 Nov 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000440863DOI Listing
December 2016

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene 2014 Mar 17;537(2):352-6. Epub 2013 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422067PMC
March 2014

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Ann Neurol 2013 Apr 19;73(4):546-53. Epub 2013 Feb 19.

Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.23832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699PMC
April 2013

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Mov Disord 2012 Sep 17;27(10):1290-4. Epub 2012 Aug 17.

Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom; Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664430PMC
September 2012

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

J Neurol Sci 2012 Jul 18;318(1-2):178-80. Epub 2012 Apr 18.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X120016
Publisher Site
http://dx.doi.org/10.1016/j.jns.2012.03.019DOI Listing
July 2012

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Mov Disord 2010 Jul;25(10):1424-31

Center for Brain and Nervous Diseases, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.23095DOI Listing
July 2010

Mutational analysis of parkin and PINK1 in multiple system atrophy.

Neurobiol Aging 2011 Mar 19;32(3):548.e5-7. Epub 2010 Jan 19.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2009.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934211PMC
March 2011