Publications by authors named "Joshua Hersheson"

21Publications

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing genetic variant: a new spontaneous clinical model.

PeerJ 2019 21;7:e7983. Epub 2019 Nov 21.

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

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http://dx.doi.org/10.7717/peerj.7983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875392PMC
November 2019

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

J Neurol 2016 Aug 13;263(8):1503-10. Epub 2016 May 13.

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

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http://dx.doi.org/10.1007/s00415-016-8148-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038PMC
August 2016

Syndromic associations and RNF216 mutations.

Parkinsonism Relat Disord 2015 Nov 4;21(11):1389-90. Epub 2015 Sep 4.

Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.parkreldis.2015.09.010DOI Listing
November 2015

The 4H syndrome due to RNF216 mutation.

Parkinsonism Relat Disord 2015 Sep 18;21(9):1122-3. Epub 2015 Jul 18.

Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.parkreldis.2015.07.012DOI Listing
September 2015

ADCY5 mutations are another cause of benign hereditary chorea.

Neurology 2015 Jul 17;85(1):80-8. Epub 2015 Jun 17.

From the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.

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http://dx.doi.org/10.1212/WNL.0000000000001720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501937PMC
July 2015

Expanding the Phenotype and Genetic Defects Associated with the Gene.

Mov Disord Clin Pract 2015 Sep 17;2(3):271-273. Epub 2015 Jun 17.

Department of Molecular Neuroscience UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery (NHNN) London United Kingdom.

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http://doi.wiley.com/10.1002/mdc3.12190
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http://dx.doi.org/10.1002/mdc3.12190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178697PMC
September 2015

A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.

Brain 2015 Aug 21;138(Pt 8):e370. Epub 2015 Jan 21.

1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, UK

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http://dx.doi.org/10.1093/brain/awu403DOI Listing
August 2015

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Mov Disord 2015 May 27;30(6):828-33. Epub 2014 Dec 27.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.26129DOI Listing
May 2015

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Neurology 2014 Nov 8;83(20):1873-5. Epub 2014 Oct 8.

From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000098
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http://dx.doi.org/10.1212/WNL.0000000000000981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240432PMC
November 2014

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
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http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 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.

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

The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Hum Mutat 2012 Sep 2;33(9):1324-32. Epub 2012 Jul 2.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.22132DOI Listing
September 2012

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.

Nat Genet 2006 May 9;38(5):515-7. Epub 2006 Apr 9.

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK.

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http://www.nature.com/articles/ng1769
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http://dx.doi.org/10.1038/ng1769DOI Listing
May 2006