Publications by authors named "Lucia Schottlaender"

26Publications

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.

Neuromuscul Disord 2020 Dec 19. Epub 2020 Dec 19.

Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK. Electronic address:

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December 2020

Prevalence of hexanucleotide repeat expansion in Greek patients with sporadic ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2020 08 26;21(5-6):470-472. Epub 2020 Apr 26.

Faculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.

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August 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

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

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.

Parkinsonism Relat Disord 2017 04 27;37:1-10. Epub 2016 Dec 27.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

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April 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

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

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

PLoS One 2016 19;11(2):e0149557. Epub 2016 Feb 19.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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July 2016

Multiple system atrophy: the application of genetics in understanding etiology.

Clin Auton Res 2015 Feb 17;25(1):19-36. Epub 2015 Feb 17.

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

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February 2015

Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.

J Neurol Sci 2015 Jan 9;348(1-2):266-8. Epub 2014 Dec 9.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK. Electronic address:

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January 2015

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology 2014 Dec 5;83(24):2256-61. Epub 2014 Nov 5.

From the Section of Biostatistics (M.G.H., N.N.D.) and Departments of Neuroscience (A.I.S.-O., S.R., K.O., M.E.M., D.W.D., O.A.R.) and Neurology (S.F., W.P.C., R.J.U., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Molecular Neuroscience (L.S., A.S., H.H.), Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Medical Genetics (M.J.F.), University of British Columbia, Vancouver, Canada; Laboratory of Neurogenetics (A.B.S.), National Institute on Aging, Bethesda, MD; Institute of Genetic Medicine (P.F.C., M.J.K.), Newcastle University, Central Parkway, Newcastle upon Tyne; Neuropathology Unit (S.M.G.), Department of Medicine, Imperial College London; Queen Square Brain Bank for Neurological Disorders (J.L.H., K.A.), Department of Molecular Neuroscience, UCL Institute of Neurology, University College London; Clinical and Cognitive Sciences Research Group (D.M.A.M.), Institute of Brain, Behavior and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford; and MRC London Neurodegenerative Diseases Brain Bank (S.A.-S., C.T.), King's College London, UK.

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December 2014

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Neurobiol Aging 2015 Feb 27;36(2):1221.e1-6. Epub 2014 Aug 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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February 2015

Multiple system atrophy and repeat expansions in C9orf72.

JAMA Neurol 2014 Sep;71(9):1190-1

Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England.

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September 2014