ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Christian Bouwkamp; Zaid Afawi; A Fattal-Valevski; IE Krabbendam; Stefano Rivetti; R Masalha; Marialuisa Quadri; Guido Breedveld; H Mandel; M Abu Tailakh; HB Beverloo; G Stevanin; A Brice; Wilfred van Ijcken; Meike Vernooij; AM Dolga; Femke de Vrij; Vincenzo Bonifati; Steven Kushner

doi:10.1212/nxg.0000000000000223

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Christian Bouwkamp, Zaid Afawi, A Fattal-Valevski, IE Krabbendam, Stefano Rivetti, R Masalha, Marialuisa Quadri, Guido Breedveld, H Mandel, M Abu Tailakh, HB Beverloo, G Stevanin, A Brice, Wilfred van Ijcken, Meike Vernooij, AM Dolga, Femke de Vrij, Vincenzo Bonifati, Steven Kushner

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

22 Citations (Scopus)

9 Downloads (Pure)

Original language	Undefined/Unknown
Article number	UNSP e223
Journal	Neurology. Genetics
Volume	4
Issue number	2
DOIs	https://doi.org/10.1212/nxg.0000000000000223
Publication status	Published - 2018

Access to Document

10.1212/nxg.0000000000000223

REPUB_108944-OA.pdfFinal published version, 688 KB

http://hdl.handle.net/1765/108944

Cite this

Bouwkamp, C., Afawi, Z., Fattal-Valevski, A., Krabbendam, IE., Rivetti, S., Masalha, R., Quadri, M., Breedveld, G., Mandel, H., Abu Tailakh, M., Beverloo, HB., Stevanin, G., Brice, A., van Ijcken, W., Vernooij, M., Dolga, AM., de Vrij, F., Bonifati, V., & Kushner, S. (2018). ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurology. Genetics, 4(2), Article UNSP e223. https://doi.org/10.1212/nxg.0000000000000223

@article{b3f392dd2c2e45678eabac443c2315f3,

title = "ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia",

author = "Christian Bouwkamp and Zaid Afawi and A Fattal-Valevski and IE Krabbendam and Stefano Rivetti and R Masalha and Marialuisa Quadri and Guido Breedveld and H Mandel and {Abu Tailakh}, M and HB Beverloo and G Stevanin and A Brice and {van Ijcken}, Wilfred and Meike Vernooij and AM Dolga and {de Vrij}, Femke and Vincenzo Bonifati and Steven Kushner",

year = "2018",

doi = "10.1212/nxg.0000000000000223",

language = "Undefined/Unknown",

volume = "4",

journal = "Neurology. Genetics",

issn = "2376-7839",

publisher = "Lippincott Williams & Wilkins",

number = "2",

}

Bouwkamp, C, Afawi, Z, Fattal-Valevski, A, Krabbendam, IE, Rivetti, S, Masalha, R, Quadri, M, Breedveld, G, Mandel, H, Abu Tailakh, M, Beverloo, HB, Stevanin, G, Brice, A, van Ijcken, W , Vernooij, M, Dolga, AM, de Vrij, F , Bonifati, V & Kushner, S 2018, 'ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia', Neurology. Genetics, vol. 4, no. 2, UNSP e223. https://doi.org/10.1212/nxg.0000000000000223

TY - JOUR

T1 - ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

AU - Bouwkamp, Christian

AU - Afawi, Zaid

AU - Fattal-Valevski, A

AU - Krabbendam, IE

AU - Rivetti, Stefano

AU - Masalha, R

AU - Quadri, Marialuisa

AU - Breedveld, Guido

AU - Mandel, H

AU - Abu Tailakh, M

AU - Beverloo, HB

AU - Stevanin, G

AU - Brice, A

AU - van Ijcken, Wilfred

AU - Vernooij, Meike

AU - Dolga, AM

AU - de Vrij, Femke

AU - Bonifati, Vincenzo

AU - Kushner, Steven

PY - 2018

Y1 - 2018

U2 - 10.1212/nxg.0000000000000223

DO - 10.1212/nxg.0000000000000223

M3 - Article

SN - 2376-7839

VL - 4

JO - Neurology. Genetics

JF - Neurology. Genetics

IS - 2

M1 - UNSP e223

ER -