Publications by authors named "Niccolo E Mencacci"

50Publications

Naming Genes for Dystonia: DYT-z or Ditzy?

Tremor Other Hyperkinet Mov (N Y) 2019 28;9. Epub 2019 Aug 28.

Departments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

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https://tremorjournal.org/index.php/tremor/article/view/710
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http://dx.doi.org/10.7916/tohm.v0.710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714488PMC
March 2020

A Novel Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.

Mov Disord Clin Pract 2019 Jul 17;6(6):479-482. Epub 2019 Jul 17.

Department of Neurology Northwestern University Feinberg School of Medicine Chicago Illinois USA.

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http://dx.doi.org/10.1002/mdc3.12805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660223PMC
July 2019

KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Parkinsonism Relat Disord 2019 04 15;61:1-3. Epub 2019 Mar 15.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.006DOI Listing
April 2019

Dystonia; a roadmap is needed for future genetic studies.

Parkinsonism Relat Disord 2019 01 19;58:9-11. Epub 2018 Dec 19.

Data Tecnica International, Glen Echo, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183055
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http://dx.doi.org/10.1016/j.parkreldis.2018.12.021DOI Listing
January 2019

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Mov Disord 2018 12 21;33(12):1961-1965. Epub 2018 Oct 21.

Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1002/mds.27523DOI Listing
December 2018

Author Correction: Dystonia.

Nat Rev Dis Primers 2018 Oct 19;4(1):37. Epub 2018 Oct 19.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, UCL, London, UK.

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http://www.nature.com/articles/s41572-018-0039-y
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http://dx.doi.org/10.1038/s41572-018-0039-yDOI Listing
October 2018

Dystonia.

Nat Rev Dis Primers 2018 09 20;4(1):25. Epub 2018 Sep 20.

Sobell Department of Motor Neuroscience and Movement Disorders,, UCL Institute of Neurology, UCL, London, UK.

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http://www.nature.com/articles/s41572-018-0023-6
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http://dx.doi.org/10.1038/s41572-018-0023-6DOI Listing
September 2018

Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.

Parkinsonism Relat Disord 2018 09 10;54:103-106. Epub 2018 Apr 10.

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

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183015
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http://dx.doi.org/10.1016/j.parkreldis.2018.04.011DOI Listing
September 2018

Emerging Monogenic Complex Hyperkinetic Disorders.

Curr Neurol Neurosci Rep 2017 Oct 30;17(12):97. Epub 2017 Oct 30.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60611, USA.

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http://dx.doi.org/10.1007/s11910-017-0806-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5662693PMC
October 2017

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort.

J Parkinsons Dis 2017 ;7(4):635-644

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.3233/JPD-171172DOI Listing
June 2018

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Mov Disord 2016 08 19;31(8):1249-51. Epub 2016 Jul 19.

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

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http://dx.doi.org/10.1002/mds.26716DOI Listing
August 2016

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Mov Disord Clin Pract 2017 Mar-Apr;4(2):254-257. Epub 2016 Jul 18.

Sobell Department of Motor Neuroscience and Movement Disorders Institute of Neurology University College London, National Hospital for Neurology and Neurosurgery London United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353318PMC
July 2016

Author Response.

Neurology 2016 Mar;86(10):978-9

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March 2016

Recent advances in genetics of chorea.

Curr Opin Neurol 2016 Aug;29(4):486-95

aDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom bMolecular Neurogenetics Unit cDepartment of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute dDepartment of Molecular and Translational Medicine, University of Milan Bicocca, Milan, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934600PMC
August 2016

The Endless Expansion of the Phenotypic Spectrum of Mutations: A True Diagnostic Challenge.

Mov Disord Clin Pract 2016 Jul-Aug;3(4):395-397. Epub 2016 May 9.

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

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http://dx.doi.org/10.1002/mdc3.12358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178772PMC
May 2016

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

Web-based assessment of Parkinson's prodromal markers identifies GBA variants.

Mov Disord 2015 Jun 13;30(7):1002-3. Epub 2015 May 13.

Reta Lila Weston Institute, UCL Institute of Neurology.

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http://dx.doi.org/10.1002/mds.26249DOI Listing
June 2015

Cortical pencil lining in neuroferritinopathy: a diagnostic clue.

Neurology 2015 Apr 1;84(17):1816-8. Epub 2015 Apr 1.

From UCL Institute of Neurology (A.B., R.E., C.G., B.B., K.P.B., N.E.M.), London; National Hospital for Neurology and Neurosurgery (M.E.A.), London, UK; IRCCS Istituto Auxologico Italiano (R.E.), Dino Ferrari Center, Università degli Studi di Milano, Italy; and University Medical Center Hamburg-Eppendorf (C.G.), Hamburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424124PMC
April 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

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Brain 2015 May 14;138(Pt 5):e352. Epub 2014 Nov 14.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awu309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407186PMC
May 2015

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

Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.

Brain 2013 Feb;136(Pt 2):392-9

Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, Forvie Site, Robinson Way, Cambridge CB2 0PY, UK.

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http://dx.doi.org/10.1093/brain/aws318DOI Listing
February 2013

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

Neurology 2012 Jul 18;79(5):435-41. Epub 2012 Jul 18.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e318261714
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http://dx.doi.org/10.1212/WNL.0b013e318261714aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405253PMC
July 2012

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

J Neurol 2013 Jan 1;260(1):85-92. Epub 2012 Jul 1.

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy; Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 'Dino Ferrari' Center, Università degli Studi di Milano, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-012-6589-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196642PMC
January 2013

Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: case report and review of the literature.

J Neurol Sci 2011 Feb 20;301(1-2):107-11. Epub 2010 Nov 20.

Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Centre, Università degli Studi di Milano-IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X1000531
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http://dx.doi.org/10.1016/j.jns.2010.10.016DOI Listing
February 2011

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.

Mov Disord 2011 Jan 7;26(1):130-7. Epub 2010 Oct 7.

Department of Neurology, Centro Dino Ferrari Università degli Studi di Milano-IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1002/mds.23258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081141PMC
January 2011

Aripiprazole in the treatment of Huntington's disease: a case series.

Neuropsychiatr Dis Treat 2009 8;5:1-4. Epub 2009 Apr 8.

Department of Neurology and Laboratory of Neuroscience, "Dino Ferrari" Centre, University of Milan Medical School - IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2695210PMC
April 2011