Publications by authors named "Viorica Chelban"

30Publications

Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.

Mov Disord 2020 10;35(10):1890-1891

Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.

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October 2020

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Neuromuscul Disord 2020 07 29;30(7):583-589. Epub 2020 Apr 29.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address:

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July 2020

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

J Neurol 2020 Sep 22;267(9):2705-2712. Epub 2020 May 22.

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

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September 2020

An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention.

J Neurol 2020 Sep 20;267(9):2754-2770. Epub 2020 May 20.

Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.

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September 2020

RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.

Mov Disord 2020 07 24;35(7):1277-1279. Epub 2020 Apr 24.

Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.

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July 2020

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Neurol Genet 2020 Apr 20;6(2):e399. Epub 2020 Feb 20.

Department of Neuromuscular Diseases (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), UCL Queen Square Institute of Neurology; National Hospital for Neurology and Neurosurgery (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), Queen Square, London, UK; Department of Neurology and Neurosurgery (V.C., S.G.), Institute of Emergency Medicine, Chisinau, Republic of Moldova; Department of Neuroscience (M.C.), University of Padua, Italy; Northern Ireland Regional Genetics Service (G.R., P.J.M.), Belfast City Hospital, UK; Department of Neuroscience (A.B.), Interdisciplinary Center (IDC) Herzliya, Israel; Department of Paediatrics & Child Health (S.K., F.J., S.I., F.K., Z.Q.), Aga Khan University, Karachi, Pakistan; Department of Neurology (L.M.), Eastern Piedmont University, Novara, Italy; Department of Neurology (E.S., D.P.) and Department of Neuroradiology (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Clinical Neurology (N.B.), University of Nottingham, UK; Department of Clinical and Movement Neurosciences (B.B., K.P.B., N.W.W.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (B.B.), Heidelberg University Hospital, Germany; Reta Lila Weston Institute (A.L.), UCL Queen Square Institute of Neurology, London, UK; and Medical Genetics and Neurogenetics Unit (B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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April 2020

Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.

J Mov Disord 2020 Jan 26;13(1):39-46. Epub 2019 Sep 26.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.

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January 2020

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.

J Neurol Neurosurg Psychiatry 2019 07 13;90(7):768-773. Epub 2019 Mar 13.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

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July 2019

LRP10 in α-synucleinopathies.

Lancet Neurol 2018 12 13;17(12):1033-1034. Epub 2018 Nov 13.

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

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December 2018

An update on advances in magnetic resonance imaging of multiple system atrophy.

J Neurol 2019 Apr 20;266(4):1036-1045. Epub 2018 Nov 20.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK.

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April 2019

Autonomic dysfunction in genetic forms of synucleinopathies.

Mov Disord 2018 03;33(3):359-371

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

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March 2018

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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February 2018

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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June 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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January 2017

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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November 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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July 2016

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

J Neurol 2016 Jun 30;263(6):1232-3. Epub 2016 Mar 30.

The National Hospital for Neurology, Neurosurgery and UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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June 2016