Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

L. Melchionda; T.B. Haack; S. Hardy; G.E.M. Abbink; E. Fernandez-Vizarra; E. Lamantea; S. Marchet; L. Morandi; M. Moggio; R. Carrozzo; A. Torraco; D. Diodato; T.M. Strom; T. Meitinger; P. Tekturk; Z. Yapici; F. Al-Murshedi; R. Stevens; R.J. Rodenburg; C. Lamperti; A. Ardissone; I. Moroni; G. Uziel; H. Prokisch; R.W. Taylor; E. Bertini; M.S. van der Knaap; D. Ghezzi; M. Zeviani

doi:10.1016/j.ajhg.2014.08.003

Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

L. Melchionda, T.B. Haack, S. Hardy, G.E.M. Abbink, E. Fernandez-Vizarra, E. Lamantea, S. Marchet, L. Morandi, M. Moggio, R. Carrozzo, A. Torraco, D. Diodato, T.M. Strom, T. Meitinger, P. Tekturk, Z. Yapici, F. Al-Murshedi, R. Stevens, R.J. Rodenburg, C. LampertiA. Ardissone, I. Moroni, G. Uziel, H. Prokisch, R.W. Taylor, E. Bertini, M.S. van der Knaap, D. Ghezzi, M. Zeviani

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	315-325
Journal	American journal of human genetics
Volume	95
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2014.08.003
Publication status	Published - 2014

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10.1016/j.ajhg.2014.08.003

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Melchionda, L., Haack, T. B., Hardy, S., Abbink, G. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., ... Zeviani, M. (2014). Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency. American journal of human genetics, 95(3), 315-325. https://doi.org/10.1016/j.ajhg.2014.08.003

Melchionda, L. ; Haack, T.B. ; Hardy, S. ; Abbink, G.E.M. ; Fernandez-Vizarra, E. ; Lamantea, E. ; Marchet, S. ; Morandi, L. ; Moggio, M. ; Carrozzo, R. ; Torraco, A. ; Diodato, D. ; Strom, T.M. ; Meitinger, T. ; Tekturk, P. ; Yapici, Z. ; Al-Murshedi, F. ; Stevens, R. ; Rodenburg, R.J. ; Lamperti, C. ; Ardissone, A. ; Moroni, I. ; Uziel, G. ; Prokisch, H. ; Taylor, R.W. ; Bertini, E. ; van der Knaap, M.S. ; Ghezzi, D. ; Zeviani, M. / Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency. In: American journal of human genetics. 2014 ; Vol. 95, No. 3. pp. 315-325.

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title = "Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency",

author = "L. Melchionda and T.B. Haack and S. Hardy and G.E.M. Abbink and E. Fernandez-Vizarra and E. Lamantea and S. Marchet and L. Morandi and M. Moggio and R. Carrozzo and A. Torraco and D. Diodato and T.M. Strom and T. Meitinger and P. Tekturk and Z. Yapici and F. Al-Murshedi and R. Stevens and R.J. Rodenburg and C. Lamperti and A. Ardissone and I. Moroni and G. Uziel and H. Prokisch and R.W. Taylor and E. Bertini and {van der Knaap}, M.S. and D. Ghezzi and M. Zeviani",

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Melchionda, L, Haack, TB, Hardy, S, Abbink, GEM, Fernandez-Vizarra, E, Lamantea, E, Marchet, S, Morandi, L, Moggio, M, Carrozzo, R, Torraco, A, Diodato, D, Strom, TM, Meitinger, T, Tekturk, P, Yapici, Z, Al-Murshedi, F, Stevens, R, Rodenburg, RJ, Lamperti, C, Ardissone, A, Moroni, I, Uziel, G, Prokisch, H, Taylor, RW, Bertini, E, van der Knaap, MS, Ghezzi, D & Zeviani, M 2014, 'Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency', American journal of human genetics, vol. 95, no. 3, pp. 315-325. https://doi.org/10.1016/j.ajhg.2014.08.003

Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency. / Melchionda, L.; Haack, T.B.; Hardy, S.; Abbink, G.E.M.; Fernandez-Vizarra, E.; Lamantea, E.; Marchet, S.; Morandi, L.; Moggio, M.; Carrozzo, R.; Torraco, A.; Diodato, D.; Strom, T.M.; Meitinger, T.; Tekturk, P.; Yapici, Z.; Al-Murshedi, F.; Stevens, R.; Rodenburg, R.J.; Lamperti, C.; Ardissone, A.; Moroni, I.; Uziel, G.; Prokisch, H.; Taylor, R.W.; Bertini, E.; van der Knaap, M.S.; Ghezzi, D.; Zeviani, M.

In: American journal of human genetics, Vol. 95, No. 3, 2014, p. 315-325.

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

TY - JOUR

T1 - Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

AU - Melchionda, L.

AU - Haack, T.B.

AU - Hardy, S.

AU - Abbink, G.E.M.

AU - Fernandez-Vizarra, E.

AU - Lamantea, E.

AU - Marchet, S.

AU - Morandi, L.

AU - Moggio, M.

AU - Carrozzo, R.

AU - Torraco, A.

AU - Diodato, D.

AU - Strom, T.M.

AU - Meitinger, T.

AU - Tekturk, P.

AU - Yapici, Z.

AU - Al-Murshedi, F.

AU - Stevens, R.

AU - Rodenburg, R.J.

AU - Lamperti, C.

AU - Ardissone, A.

AU - Moroni, I.

AU - Uziel, G.

AU - Prokisch, H.

AU - Taylor, R.W.

AU - Bertini, E.

AU - van der Knaap, M.S.

AU - Ghezzi, D.

AU - Zeviani, M.

PY - 2014

Y1 - 2014

U2 - 10.1016/j.ajhg.2014.08.003

DO - 10.1016/j.ajhg.2014.08.003

M3 - Article

C2 - 25175347

VL - 95

SP - 315

EP - 325

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 3

ER -