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ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Bouwkamp, C.G. (Christian)
Afawi, Z. (Zaid)
Fattal-Valevski, A. (Aviva)
Krabbendam, I.E. (Inge E.)
Rivetti, S. (Stefano)
Masalha, R. (Rafik)
Quadri, M. (Marialuisa)
Breedveld, G.J. (Guido)
Mandel, H.
Tailakh, M.A. (Muhammad Abu)
Beverloo, H.B. (Berna)
Stevanin, G. (Giovanni)
Brice, A.
IJcken, W.F.J. (Wilfred) van
Vernooij, M.W. (Meike)
Dolga, A.M. (Amalia)
Vrij, F.M.S. (Femke)
Bonifati, V. (Vincenzo)
Kushner, S.A. (Steven)

Publication date

April 2018

DOI

10.1212/NXG.0000000000000223

Publisher

Ovid Technologies (Wolters Kluwer Health)

ISSN

2376-7839

Citation count (estimate)

3

Abstract

Objective: To identify the clinical characteristics and genetic etiology of a family affected with hereditar

Extracted data

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Gonzalo, Juan F
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Hedera, Peter
Williamson, Jeffrey A.
Rainier, Shirley
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March 2001

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Schule, R.
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Durr, A.
Forlani, S.
Sperfeld, A.D.
Klimpe, S.
Mueller, J.C.
Seibel, A.
Warrenburg, B.P.C. van de
Bauer, P.
Schols, L.

January 2009

Contains fulltext : 80386.pdf (publisher's version ) (Closed access)OBJECTIVE: Her...

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Morais, Sara
Raymond, Laure
Mairey, Mathilde
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Brandão, Eva
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Reid, E
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ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Marelli, Cecilia
Hamel, Christian
Quiles, Melanie
Carlander, Bertrand
Larrieu, Lise
Delettre, Cecile
Sarzi, Emmanuelle
Chretien, Dominique
Rustin, Pierre
Koenig, Michel
Guissart, Claire

January 2018

International audienceAconitase 2 (ACO2) encodes the mitochondrial aconitase (ACO2), an enzyme catal...

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Faber, Ingrid
Servelhere, Katiane R
Martinez, Alberto R M
D'Abreu, Anelyssa
Lopes-Cendes, Iscia
França-Jr, Marcondes C

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