A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

A. Kashani; I. Thiffault; M.E. Dilenge; C. Saint-Martin; K. Guerrero; L.T. Tran; E. Shoubridge; M.S. van der Knaap; N. Braverman; G. Bernard

doi:10.1007/s10048-014-0412-2

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

A. Kashani, I. Thiffault, M.E. Dilenge, C. Saint-Martin, K. Guerrero, L.T. Tran, E. Shoubridge, M.S. van der Knaap, N. Braverman, G. Bernard

Pediatric surgery

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

Original language	Undefined/Unknown
Pages (from-to)	161-164
Journal	Neurogenetics
Volume	15
Issue number	3
DOIs	https://doi.org/10.1007/s10048-014-0412-2
Publication status	Published - 2014

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10.1007/s10048-014-0412-2

Cite this

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title = "A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy",

author = "A. Kashani and I. Thiffault and M.E. Dilenge and C. Saint-Martin and K. Guerrero and L.T. Tran and E. Shoubridge and {van der Knaap}, M.S. and N. Braverman and G. Bernard",

year = "2014",

doi = "10.1007/s10048-014-0412-2",

language = "Undefined/Unknown",

volume = "15",

pages = "161--164",

journal = "Neurogenetics",

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T1 - A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

AU - Kashani, A.

AU - Thiffault, I.

AU - Dilenge, M.E.

AU - Saint-Martin, C.

AU - Guerrero, K.

AU - Tran, L.T.

AU - Shoubridge, E.

AU - van der Knaap, M.S.

AU - Braverman, N.

AU - Bernard, G.

PY - 2014

Y1 - 2014

U2 - 10.1007/s10048-014-0412-2

DO - 10.1007/s10048-014-0412-2

M3 - Article

C2 - 24952175

VL - 15

SP - 161

EP - 164

JO - Neurogenetics

JF - Neurogenetics

SN - 1364-6745

IS - 3

ER -