Demy J.S. Kuipers - Concepedia

Author

Demy J.S. Kuipers

Also Known As

Demy J S Kuipers, Demy J. S. Kuipers, Demy J.S. Kuipers, Demy Kuipers

Publications

393

Citations

H-Index

Concepts

All Affiliations

Demy J.S. Kuipers is an author at Erasmus MC specializing in medicine, pathology, and genetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	228
2	Neurology	2	2	187
3	Pathology	2	2	69
4	Molecular Genetics	1	1	41
5	Neuroscience	1	1	28

Demy J.S. Kuipers

Publications

348

Citations

H-Index

Page 1

	Year	Citations
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska, The Lancet Neurology Neurodegenerative DiseasesGenetic DisorderGeneticsGenetic EpidemiologySequencing Study	2018	159
<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu, Annals of Neurology	2020	63
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN Simone Olgiati, Okan Doğu, Zeynep Tüfekçıoğlu, Parkinsonism & Related Disorders Translational MedicineAutoimmune DiseaseGenetic DisorderMedicineGenetics	2017	41
<i>PTRHD1</i> Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability Demy J.S. Kuipers, Jonathan Carr, Soraya Bardien, Movement Disorders	2018	30
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia Matěj Škorvánek, Irena Rektorová, Wim Mandemakers, Parkinsonism & Related Disorders Experimental NeuropathologyPathologyDegenerative DiseaseNeurologyNeuroscience	2021	28
<i>PTPA</i> variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability Christina Fevga, Christelle Tesson, Ana Carreras Mascaro, Brain	2022	27

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