Publications by authors named "Joost Raaphorst"

42Publications

Comment on "Systematic retrospective study on 64 patients anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of malignancy".

J Am Acad Dermatol 2020 Dec 3;83(6):e459-e460. Epub 2020 Aug 3.

Department of Neurology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Neuroscience, The Netherlands.

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http://dx.doi.org/10.1016/j.jaad.2020.06.1032DOI Listing
December 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Characterization of EEG-based functional brain networks in myotonic dystrophy type 1.

Clin Neurophysiol 2020 Aug 29;131(8):1886-1895. Epub 2020 May 29.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Academic University Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.05.014DOI Listing
August 2020

Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.

J Neurol Neurosurg Psychiatry 2020 Aug 23;91(8):876-878. Epub 2020 Jun 23.

Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Noord-Holland, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2020-323270DOI Listing
August 2020

Response to the letter to editor about "Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis".

J Affect Disord 2019 12 22;259:468-470. Epub 2019 Sep 22.

Department of Neurology, Radboud University Medical Centre, Reinier Postlaan 4, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.jad.2019.09.069DOI Listing
December 2019

High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study.

Neuromuscul Disord 2019 10 28;29(10):758-765. Epub 2019 Aug 28.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2019.08.012DOI Listing
October 2019

Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis.

J Affect Disord 2019 05 7;250:260-269. Epub 2019 Mar 7.

Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Institute, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jad.2019.03.036DOI Listing
May 2019

Structural white matter networks in myotonic dystrophy type 1.

Neuroimage Clin 2019 28;21:101615. Epub 2018 Nov 28.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Reinier Postlaan 4, 6525 GC, Nijmegen; Department of Neurology, Amsterdam Neuroscience Institute, Amsterdam University Medical Center, Meibergdreef 9, Amsterdam 1105 AZ, the Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22131582183036
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http://dx.doi.org/10.1016/j.nicl.2018.101615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413352PMC
December 2019

Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study.

Disabil Rehabil 2020 Jun 20;42(11):1561-1568. Epub 2018 Nov 20.

Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://www.tandfonline.com/doi/full/10.1080/09638288.2018.1
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http://dx.doi.org/10.1080/09638288.2018.1528305DOI Listing
June 2020

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.

Neuromuscul Disord 2018 11 19;28(11):938-946. Epub 2018 Sep 19.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183102
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http://dx.doi.org/10.1016/j.nmd.2018.09.003DOI Listing
November 2018

Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case-control Study.

Environ Health Perspect 2017 09 27;125(9):097023. Epub 2017 Sep 27.

Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands.

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http://dx.doi.org/10.1289/EHP1115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915195PMC
September 2017

The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis.

J Neurol Neurosurg Psychiatry 2018 09 9;89(9):995-1002. Epub 2018 Feb 9.

Department of Medical Psychology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2017-317459
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http://dx.doi.org/10.1136/jnnp-2017-317459DOI Listing
September 2018

Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis.

Neurology 2018 01 6;90(1):e22-e30. Epub 2017 Dec 6.

From the Nuffield Department of Clinical Neurosciences (E.F., E.G., M.R.T.), University of Oxford, UK; Department of Neurology (P.O., P.S., F.V., J.H.W., P.W., A.C.L., M.O.), Ulm University Hospital, Germany; Department of Pathophysiology and Transplantation (F.V., V.S.), Università degli Studi di Milano; Department of Neurology-Stroke Unit and Laboratory of Neuroscience (F.V., C.M., V.S.), IRCCS Istituto Auxologico Italiano, Milan, Italy; Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, and Biomedicine (C.B., J.K.), University Hospital and University of Basel, Switzerland; Department of Neurology (P.V.D.) and Laboratory of Molecular Neurobiomarker Research and Laboratory Medicine (K.P.), University Hospitals Leuven; KU Leuven-University of Leuven (P.V.D.); Department of Neurosciences (P.V.D.), VIB-Center for Brain & Disease Research, Leuven, Belgium; Department of Neurology (J.G., P.M., B.S.), Jena University Hospital, Germany; Department of Metabolic Biochemistry (C.J., F.L.) and Neurological Diseases Department (M.d.M.A., F.S.), Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France; Department of Neurology (S.K., S.P.), Hannover Medical School; Institute for Epidemiology and Medical Biometry (B.M.) Ulm University, Germany; Donders Institute for Brain, Cognition and Behaviour, Department of Neurology (J.R., M.M.V.), and Radboud Alzheimer Center, Department of Laboratory Medicine (M.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; and Department of Neurodegenerative Disease and Gerontopsychiatry/Neurology (P.W.), Bonn University Hospital, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000004761DOI Listing
January 2018

The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis.

Cortex 2017 10 16;95:143-155. Epub 2017 Aug 16.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00109452173026
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http://dx.doi.org/10.1016/j.cortex.2017.08.008DOI Listing
October 2017

Brain imaging in myotonic dystrophy type 1: A systematic review.

Neurology 2017 Aug 2;89(9):960-969. Epub 2017 Aug 2.

From the Department of Neurology (K.O., N.L., A.M.T., J.R., B.G.M.v.E.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; and Institute of Molecular, Cell and Systems Biology (D.G.M.), College of Medical, Veterinary and Life Sciences, University of Glasgow, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004300DOI Listing
August 2017

A case series of PLS patients with frontotemporal dementia and overview of the literature.

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 26;18(7-8):534-548. Epub 2017 Jul 26.

a Department of Neurology , Brain Center Rudolf Magnus, University Medical Center Utrecht , Utrecht , The Netherlands.

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http://dx.doi.org/10.1080/21678421.2017.1354996DOI Listing
November 2017

Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan.

J Neurol Neurosurg Psychiatry 2017 07 14;88(7):550-556. Epub 2017 Mar 14.

Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2016-315071DOI Listing
July 2017

No association between gluten sensitivity and amyotrophic lateral sclerosis.

J Neurol 2017 Apr 6;264(4):694-700. Epub 2017 Feb 6.

Department of Neurology, Brain Center Rudolf Magnus, F02.230, University Medical Center Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00415-017-8400-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374172PMC
April 2017

Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.

J Alzheimers Dis 2017 ;55(2):585-595

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud Alzheimer Centre, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JAD-160386DOI Listing
February 2018

The cognitive profile of ALS: a systematic review and meta-analysis update.

J Neurol Neurosurg Psychiatry 2016 Jun 17;87(6):611-9. Epub 2015 Aug 17.

Clinical Research Unit, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2015-310734DOI Listing
June 2016

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy.

Neurology 2014 Aug 30;83(9):818-25. Epub 2014 Jul 30.

From the Departments of Neurology (J.R., A.J.v.d.K., B.S., M.d.V.) and Radiology (P.F.C.G., C.B.M.), Academic Medical Center, University of Amsterdam; Departments of Psychiatry (D.J.V.) and Anatomy and Neurosciences (Y.D.v.d.W.), VU University Medical Centre, Amsterdam; Department of Psychology (B.S.), University of Amsterdam; Neuroimaging Center (M.-J.v.T.), University Medical Center Groningen, University of Groningen; Brain Center Rudolf Magnus Institute of Neuroscience (L.H.v.d.B), Department of Neurology, University Medical Center Utrecht; Netherlands Institute for Neuroscience (E.A., Y.D.v.d.W.), an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam; Department of Neurology (J.R.), Radboud University Medical Center Nijmegen, the Netherlands; and Department of Clinical Neurosciences (E.A.), University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000745DOI Listing
August 2014

The verbal fluency index: Dutch normative data for cognitive testing in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Sep 27;15(5-6):388-91. Epub 2014 May 27.

Department of Neurology, Academic Medical Centre, University of Amsterdam , Amsterdam , the Netherlands.

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http://dx.doi.org/10.3109/21678421.2014.906620DOI Listing
September 2014

Response to 'Exploring limits of neuropsychological screening in ALS: the FAB problem'.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Mar 4;14(2):159-60. Epub 2013 Jan 4.

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http://dx.doi.org/10.3109/21678421.2012.747541DOI Listing
March 2013

The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.

Neurology 2012 Sep 12;79(13):1377-83. Epub 2012 Sep 12.

Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0b013e31826c1aa1DOI Listing
September 2012

[West Nile virus poliomyelitis after a holiday in Egypt].

Ned Tijdschr Geneeskd 2012 ;155(35):A4333

Tergooiziekenhuizen, afd. Neurologie, Blaricum, the Netherlands.

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October 2012

A systematic review of behavioural changes in motor neuron disease.

Amyotroph Lateral Scler 2012 Oct 16;13(6):493-501. Epub 2012 Mar 16.

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.3109/17482968.2012.656652DOI Listing
October 2012

[Amyotrophic lateral sclerosis and frontotemporal dementia: overlapping characteristics].

Ned Tijdschr Geneeskd 2010 ;154:A631

Academisch Medisch Centrum/Universiteit van Amsterdam, Afd. Neurologie, Amsterdam, The Netherlands.

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March 2010

The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis.

Amyotroph Lateral Scler 2010 ;11(1-2):27-37

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.3109/17482960802645008DOI Listing
August 2010

Numb cheek syndrome as the first manifestation of anti-Hu paraneoplastic neuronopathy.

J Neurol 2006 May 14;253(5):664-5. Epub 2005 Nov 14.

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http://dx.doi.org/10.1007/s00415-005-0047-1DOI Listing
May 2006