Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
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Article Information
- Received November 15, 2019
- Accepted in final form February 19, 2020
- First Published March 23, 2020.
Author Disclosures
- Merel O. Mol, MD,
- Jeroen G.J. van Rooij, MSc,
- Esther Brusse, MD, PhD,
- Annemieke J.M.H. Verkerk, PhD,
- Shamiram Melhem, BSc,
- Wilfred F.A. den Dunnen, MD, PhD,
- Patrizia Rizzu, MD, PhD,
- Chiara Cupidi, MD, PhD,
- John C. van Swieten, MD, PhD and
- Laura Donker Kaat, MD, PhD
- Merel O. Mol, MD,
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- Jeroen G.J. van Rooij, MSc,
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- Esther Brusse, MD, PhD,
(1) I serves as an (unpaid)member of the Medical Advisory Board of the Dutch ADCA patient foundation (non- profit entity).
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(1) Dutch ADCA patient foundation.
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- Annemieke J.M.H. Verkerk, PhD,
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- Shamiram Melhem, BSc,
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- Wilfred F.A. den Dunnen, MD, PhD,
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- Patrizia Rizzu, MD, PhD,
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- Chiara Cupidi, MD, PhD,
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- John C. van Swieten, MD, PhD and
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Neurology 2016-2020
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Dioraphte, the Netherlands Alzheimer Foundation, the Bluefield project.
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- Laura Donker Kaat, MD, PhD
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Alzheimer Nederland, WE.03-2016-09
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- From the Department of Neurology (M.O.M., J.G.J.v.R., E.B., S.M., J.C.v.S., L.D.K.); Department of Internal Medicine (J.G.J.v.R., A.J.M.H.V.), Erasmus Medical Center, Rotterdam; Department of Pathology and Medical Biology (W.F.A.d.D.), University Medical Centre Groningen, Groningen, the Netherlands; German Center for Neurodegenerative Diseases (DZNE) (P.R.), Tuebingen, Germany; IRCCS Centro Neurolesi “Bonino Pulejo” (C.C), Messina, Italy; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
- Correspondence
Dr. Mol m.o.mol{at}erasmusmc.nl
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