Sonja W Scholz

Sonja W Scholz

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Sonja W Scholz

Publications by authors named "Sonja W Scholz"

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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2019 Aug 27;138(2):237-250. Epub 2019 May 27.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02026-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660501PMC
August 2019

p.V363I mutation: A rare cause of corticobasal degeneration.

Neurol Genet 2019 Aug 25;5(4):e347. Epub 2019 Jun 25.

Neurodegenerative Disease Research Unit (S.A., M.S.S., S.W.S.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Movement Disorders and Memory Unit (M.D.F., P.P.), Department of Neurology, University Hospital Mutua de Terrassa, and Fundació per la Recerca Biomèdica i Social Mútua Terrassa, Barcelona, Spain; Laboratory of Neurogenetics (J.D.), National Institutes on Aging, National Institutes of Health, Bethesda, MD; Neurology Service (L.I.), Hospital Universitari Germans Trias, Pujol, Badalona, Spain; Department of Neurology (A.B., A.P., S.W.S.), Johns Hopkins University Medical Center, Baltimore, MD; Newcastle Institute for Ageing (C.M.M.), Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Neurodegenerative Diseases (C.S., T.G.), Center of Neurology, Hertie-Institute for Clinical Brain Research, University of Tuebingen, and German Center for Neurodegenerative Diseases, Germany; Department of Molecular and Clinical Neuroscience (E.J., H.R.M.), Institute of Neurology, University College London, United Kingdom; Department of Pathology (Neuropathology) (O.P., J.T.), Johns Hopkins University Medical Center, Baltimore, MD; Department of Clinical Neurosciences (H.R.M.), Royal Free Campus UCL, Institute of Neurology, London, United Kingdom; Neurological Tissue Bank (E.G.), University of Barcelona-Hospital Clinic, IDIBAPS, Barcelona, Spain; and Institute of Neurology (E.G.), Medical University of Vienna, Austria.

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http://dx.doi.org/10.1212/NXG.0000000000000347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659135PMC
August 2019

Assessment of APOE in atypical parkinsonism syndromes.

Neurobiol Dis 2019 07 21;127:142-146. Epub 2019 Feb 21.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588472PMC
July 2019

Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 07 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588425PMC
July 2019

Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiol Aging 2019 04 17;76:214.e1-214.e9. Epub 2018 Nov 17.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391207PMC
April 2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2019 03 24;75:223.e1-223.e10. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541211PMC
March 2019

DNA typos spell trouble: Somatic mutations as a cause of idiopathic neurodegenerative diseases?

Mov Disord 2019 03 24;34(3):321. Epub 2019 Jan 24.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.27624DOI Listing
March 2019

Identification of new α-synuclein regulator by nontraditional drug development pipeline.

Mov Disord 2018 03 11;33(3):402. Epub 2018 Jan 11.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.27278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839983PMC
March 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Lancet Neurol 2018 01 16;17(1):64-74. Epub 2017 Dec 16.

UK Dementia Research Institute, University College London, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30400-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805394PMC
January 2018

Restless legs syndrome: is it all in the genes?

Authors:
Sonja W Scholz

Lancet Neurol 2017 11;16(11):859-860

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30330-7DOI Listing
November 2017

C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.

Neurodegener Dis 2016 31;16(5-6):370-2. Epub 2016 May 31.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Md., The Commonwealth Medical College, Scranton, Pa., USA.

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http://dx.doi.org/10.1159/000445872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011449PMC
September 2017

Mutation in an Adult Patient with Myoclonus-Dystonia.

Case Rep Neurol 2017 May-Aug;9(2):216-221. Epub 2017 Aug 31.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1159/000479788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618395PMC
August 2017

Author response: A genome-wide association study in multiple system atrophy.

Neurology 2017 03;88(13):1296-1297

London.

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http://dx.doi.org/10.1212/WNL.0000000000003783DOI Listing
March 2017

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Mov Disord 2017 02 17;32(2):298-299. Epub 2016 Dec 17.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.26886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318291PMC
February 2017

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiol Dis 2016 Oct 14;94:55-62. Epub 2016 Jun 14.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983488PMC
October 2016

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

Int J Mol Sci 2015 Oct 16;16(10):24629-55. Epub 2015 Oct 16.

Department of Molecular Neuroscience, University College London, Institute of Neurology, Queen Square House, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/ijms161024629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632769PMC
October 2015

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://www.viverelamiastenia.it/file/JAMA%20Neurology_MG%20G
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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2014.4103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

GBA mutations and Parkinson disease: when genotype meets phenotype.

Neurology 2015 Mar 4;84(9):866-7. Epub 2015 Feb 4.

From the Department of Neurology (S.W.S.), Johns Hopkins Hospital, Baltimore; Laboratory of Neurogenetics (S.W.S.), National Institute on Aging, National Institutes of Health, Bethesda, MD; and Department of Neurology (B.S.J.), Seoul National University Hospital, Republic of Korea.

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http://dx.doi.org/10.1212/WNL.0000000000001321DOI Listing
March 2015

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Neurobiol Aging 2015 Feb 6;36(2):1223.e1-2. Epub 2014 Sep 6.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315721PMC
February 2015

Multiple system atrophy as emerging template for accelerated drug discovery in α-synucleinopathies.

Parkinsonism Relat Disord 2014 Aug 21;20(8):793-9. Epub 2014 May 21.

Department of Neurology, Innsbruck Medical University, Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141743PMC
August 2014

Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease.

Int J Neurosci 2013 Dec 9;123(12):847-9. Epub 2013 Jul 9.

1Departments of Neurology and Neurosurgery, Center for Movement Disorders and Neurorestoration, University of Florida , Gainesville, FL , USA.

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http://dx.doi.org/10.3109/00207454.2013.810626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001762PMC
December 2013

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Sep 8;33(9):2231.e1-2231.e6. Epub 2012 May 8.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391327PMC
September 2012

Genomics and bioinformatics of Parkinson's disease.

Cold Spring Harb Perspect Med 2012 Jul;2(7):a009449

Department of Neuroscience, Georgetown University, Washington, DC, USA.

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http://dx.doi.org/10.1101/cshperspect.a009449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385936PMC
July 2012

Genetic players in multiple system atrophy: unfolding the nature of the beast.

Neurobiol Aging 2011 Oct 24;32(10):1924.e5-14. Epub 2011 May 24.

Division of Clinical Neurobiology, Department of Neurology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157605PMC
October 2011

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

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.

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

PINK1 mutations: does the dosage make the poison?

Authors:
Sonja W Scholz

Hum Mutat 2009 Nov;30(11)

National Institute on Aging.

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http://dx.doi.org/10.1002/humu.21139DOI Listing
November 2009

The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations.

Neurosci Lett 2006 Mar 18;395(3):227-9. Epub 2005 Nov 18.

Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Building 35, Room 1A-1012, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2005.10.081DOI Listing
March 2006