Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

Merel Mol; Jeroen van Rooij; Esther Brusse; Annemieke Verkerk; Shamiram Melhem; WF den Dunnen; P Rizzu; C Cupidi; J.C. van Swieten; Laura Donker Kaat

doi:10.1212/nxg.0000000000000417

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

Merel Mol, Jeroen van Rooij, Esther Brusse, Annemieke Verkerk, Shamiram Melhem, WF den Dunnen, P Rizzu, C Cupidi, J.C. van Swieten, Laura Donker Kaat

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

51 Downloads (Pure)

Original language	English
Article number	e417
Journal	Neurology. Genetics
Volume	6
Issue number	3
DOIs	https://doi.org/10.1212/nxg.0000000000000417
Publication status	Published - 2020

Research programs

EMC COEUR-09
EMC MM-04-44-02
EMC OR-01

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10.1212/nxg.0000000000000417

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Cite this

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title = "Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation",

author = "Merel Mol and {van Rooij}, Jeroen and Esther Brusse and Annemieke Verkerk and Shamiram Melhem and {den Dunnen}, WF and P Rizzu and C Cupidi and {van Swieten}, J.C. and {Donker Kaat}, Laura",

year = "2020",

doi = "10.1212/nxg.0000000000000417",

language = "English",

volume = "6",

journal = "Neurology. Genetics",

issn = "2376-7839",

publisher = "Lippincott Williams & Wilkins",

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T1 - Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

AU - Mol, Merel

AU - van Rooij, Jeroen

AU - Brusse, Esther

AU - Verkerk, Annemieke

AU - Melhem, Shamiram

AU - den Dunnen, WF

AU - Rizzu, P

AU - Cupidi, C

AU - van Swieten, J.C.

AU - Donker Kaat, Laura

PY - 2020

Y1 - 2020

U2 - 10.1212/nxg.0000000000000417

DO - 10.1212/nxg.0000000000000417

M3 - Article

SN - 2376-7839

VL - 6

JO - Neurology. Genetics

JF - Neurology. Genetics

IS - 3

M1 - e417

ER -