Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen; Radek Szklarczyk; Mike Gerards; Debby M. E. I. Hellebrekers; Elvira N. M. Mulder-Den Hartog; Jo Vanoevelen; Rick Kamps; Bart de Koning; S. Lane Rutledge; Thomas Schmitt-Mechelke; Carola G. M. Van Berkel; Marjo S. van der Knaap; Irenaeus F. M. de Coo; Hubert J.M. Smeets

doi:10.3389/fneur.2016.00203

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen, Radek Szklarczyk, Mike Gerards, Debby M. E. I. Hellebrekers, Elvira N. M. Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S. Lane Rutledge, Thomas Schmitt-Mechelke, Carola G. M. Van Berkel, Marjo S. van der Knaap, Irenaeus F. M. de Coo, Hubert J.M. Smeets

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

Original language	English
Article number	203
Number of pages	8
Journal	Frontiers in Neurology
Volume	7
DOIs	https://doi.org/10.3389/fneur.2016.00203
Publication status	Published - 16 Nov 2016

Keywords

genetic diagnosis
brain-MRI
Perrault syndrome type 3
Perrault syndrome
CLPP

Access to Document

10.3389/fneur.2016.00203

Cite this

Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Rutledge, S. L., Schmitt-Mechelke, T., Van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M., & Smeets, H. J. M. (2016). Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. Frontiers in Neurology, 7, [203]. https://doi.org/10.3389/fneur.2016.00203

Theunissen, Tom E. J. ; Szklarczyk, Radek ; Gerards, Mike ; Hellebrekers, Debby M. E. I. ; Mulder-Den Hartog, Elvira N. M. ; Vanoevelen, Jo ; Kamps, Rick ; de Koning, Bart ; Rutledge, S. Lane ; Schmitt-Mechelke, Thomas ; Van Berkel, Carola G. M. ; van der Knaap, Marjo S. ; de Coo, Irenaeus F. M. ; Smeets, Hubert J.M. / Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. In: Frontiers in Neurology. 2016 ; Vol. 7.

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title = "Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects",

keywords = "genetic diagnosis, brain-MRI, Perrault syndrome type 3, Perrault syndrome, CLPP",

author = "Theunissen, {Tom E. J.} and Radek Szklarczyk and Mike Gerards and Hellebrekers, {Debby M. E. I.} and {Mulder-Den Hartog}, {Elvira N. M.} and Jo Vanoevelen and Rick Kamps and {de Koning}, Bart and Rutledge, {S. Lane} and Thomas Schmitt-Mechelke and {Van Berkel}, {Carola G. M.} and {van der Knaap}, {Marjo S.} and {de Coo}, {Irenaeus F. M.} and Smeets, {Hubert J.M.}",

year = "2016",

month = nov,

day = "16",

doi = "10.3389/fneur.2016.00203",

language = "English",

volume = "7",

journal = "Frontiers in Neurology",

issn = "1664-2295",

publisher = "Frontiers Media S.A.",

}

Theunissen, TEJ , Szklarczyk, R , Gerards, M , Hellebrekers, DMEI, Mulder-Den Hartog, ENM, Vanoevelen, J , Kamps, R , de Koning, B, Rutledge, SL, Schmitt-Mechelke, T, Van Berkel, CGM, van der Knaap, MS, de Coo, IFM & Smeets, HJM 2016, 'Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects', Frontiers in Neurology, vol. 7, 203. https://doi.org/10.3389/fneur.2016.00203

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. / Theunissen, Tom E. J.; Szklarczyk, Radek ; Gerards, Mike ; Hellebrekers, Debby M. E. I.; Mulder-Den Hartog, Elvira N. M.; Vanoevelen, Jo ; Kamps, Rick ; de Koning, Bart; Rutledge, S. Lane; Schmitt-Mechelke, Thomas; Van Berkel, Carola G. M.; van der Knaap, Marjo S.; de Coo, Irenaeus F. M.; Smeets, Hubert J.M.

In: Frontiers in Neurology, Vol. 7, 203, 16.11.2016.

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

TY - JOUR

T1 - Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

AU - Theunissen, Tom E. J.

AU - Szklarczyk, Radek

AU - Gerards, Mike

AU - Hellebrekers, Debby M. E. I.

AU - Mulder-Den Hartog, Elvira N. M.

AU - Vanoevelen, Jo

AU - Kamps, Rick

AU - de Koning, Bart

AU - Rutledge, S. Lane

AU - Schmitt-Mechelke, Thomas

AU - Van Berkel, Carola G. M.

AU - van der Knaap, Marjo S.

AU - de Coo, Irenaeus F. M.

AU - Smeets, Hubert J.M.

PY - 2016/11/16

Y1 - 2016/11/16

KW - genetic diagnosis

KW - brain-MRI

KW - Perrault syndrome type 3

KW - Perrault syndrome

KW - CLPP

U2 - 10.3389/fneur.2016.00203

DO - 10.3389/fneur.2016.00203

M3 - Article

C2 - 27899912

VL - 7

JO - Frontiers in Neurology

JF - Frontiers in Neurology

SN - 1664-2295

M1 - 203

ER -