CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann; Szymon Zietkiewicz; Maria Kousi; Radek Szklarczyk; Tobias B. Haack; Soren W. Gersting; Ania C. Muntau; Aleksandar Rakovic; G. Herma Renkema; Richard J. Rodenburg; Tim M. Strom; Thomas Meitinger; M. Estela Rubio-Gozalbo; Elzbieta Chrusciel; Felix Distelmaier; Christelle Golzio; Joop H. Jansen; Clara van Karnebeek; Yolanda Lillquist; Thomas Luecke; Katrin Ounap; Riina Zordania; Joy Yaplito-Lee; Hans van Bokhoven; Johannes N. Spelbrink; Frederic M. Vaz; Mia Pras-Raves; Rafal Ploski; Ewa Pronicka; Christine Klein; Michel A. A. P. Willemsen; Arjan P. M. de Brouwer; Holger Prokisch; Nicholas Katsanis; Ron A. Wevers

doi:10.1016/j.ajhg.2014.12.013

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann^*, Szymon Zietkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Soren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas LueckeKatrin Ounap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frederic M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A. A. P. Willemsen, Arjan P. M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	245-257
Journal	American Journal of Human Genetics
Volume	96
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2014.12.013
Publication status	Published - 5 Feb 2015

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10.1016/j.ajhg.2014.12.013

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Wortmann, S. B., Zietkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., ... Wevers, R. A. (2015). CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. American Journal of Human Genetics, 96(2), 245-257. https://doi.org/10.1016/j.ajhg.2014.12.013

Wortmann, Saskia B. ; Zietkiewicz, Szymon ; Kousi, Maria ; Szklarczyk, Radek ; Haack, Tobias B. ; Gersting, Soren W. ; Muntau, Ania C. ; Rakovic, Aleksandar ; Renkema, G. Herma ; Rodenburg, Richard J. ; Strom, Tim M. ; Meitinger, Thomas ; Rubio-Gozalbo, M. Estela ; Chrusciel, Elzbieta ; Distelmaier, Felix ; Golzio, Christelle ; Jansen, Joop H. ; van Karnebeek, Clara ; Lillquist, Yolanda ; Luecke, Thomas ; Ounap, Katrin ; Zordania, Riina ; Yaplito-Lee, Joy ; van Bokhoven, Hans ; Spelbrink, Johannes N. ; Vaz, Frederic M. ; Pras-Raves, Mia ; Ploski, Rafal ; Pronicka, Ewa ; Klein, Christine ; Willemsen, Michel A. A. P. ; de Brouwer, Arjan P. M. ; Prokisch, Holger ; Katsanis, Nicholas ; Wevers, Ron A. / CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. In: American Journal of Human Genetics. 2015 ; Vol. 96, No. 2. pp. 245-257.

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title = "CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder",

author = "Wortmann, {Saskia B.} and Szymon Zietkiewicz and Maria Kousi and Radek Szklarczyk and Haack, {Tobias B.} and Gersting, {Soren W.} and Muntau, {Ania C.} and Aleksandar Rakovic and Renkema, {G. Herma} and Rodenburg, {Richard J.} and Strom, {Tim M.} and Thomas Meitinger and Rubio-Gozalbo, {M. Estela} and Elzbieta Chrusciel and Felix Distelmaier and Christelle Golzio and Jansen, {Joop H.} and {van Karnebeek}, Clara and Yolanda Lillquist and Thomas Luecke and Katrin Ounap and Riina Zordania and Joy Yaplito-Lee and {van Bokhoven}, Hans and Spelbrink, {Johannes N.} and Vaz, {Frederic M.} and Mia Pras-Raves and Rafal Ploski and Ewa Pronicka and Christine Klein and Willemsen, {Michel A. A. P.} and {de Brouwer}, {Arjan P. M.} and Holger Prokisch and Nicholas Katsanis and Wevers, {Ron A.}",

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day = "5",

doi = "10.1016/j.ajhg.2014.12.013",

language = "English",

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Wortmann, SB, Zietkiewicz, S, Kousi, M, Szklarczyk, R, Haack, TB, Gersting, SW, Muntau, AC, Rakovic, A, Renkema, GH, Rodenburg, RJ, Strom, TM, Meitinger, T, Rubio-Gozalbo, ME, Chrusciel, E, Distelmaier, F, Golzio, C, Jansen, JH, van Karnebeek, C, Lillquist, Y, Luecke, T, Ounap, K, Zordania, R, Yaplito-Lee, J, van Bokhoven, H, Spelbrink, JN, Vaz, FM, Pras-Raves, M, Ploski, R, Pronicka, E, Klein, C, Willemsen, MAAP, de Brouwer, APM, Prokisch, H, Katsanis, N & Wevers, RA 2015, 'CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder', American Journal of Human Genetics, vol. 96, no. 2, pp. 245-257. https://doi.org/10.1016/j.ajhg.2014.12.013

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. / Wortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A.

In: American Journal of Human Genetics, Vol. 96, No. 2, 05.02.2015, p. 245-257.

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

TY - JOUR

T1 - CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

AU - Wortmann, Saskia B.

AU - Zietkiewicz, Szymon

AU - Kousi, Maria

AU - Szklarczyk, Radek

AU - Haack, Tobias B.

AU - Gersting, Soren W.

AU - Muntau, Ania C.

AU - Rakovic, Aleksandar

AU - Renkema, G. Herma

AU - Rodenburg, Richard J.

AU - Strom, Tim M.

AU - Meitinger, Thomas

AU - Rubio-Gozalbo, M. Estela

AU - Chrusciel, Elzbieta

AU - Distelmaier, Felix

AU - Golzio, Christelle

AU - Jansen, Joop H.

AU - van Karnebeek, Clara

AU - Lillquist, Yolanda

AU - Luecke, Thomas

AU - Ounap, Katrin

AU - Zordania, Riina

AU - Yaplito-Lee, Joy

AU - van Bokhoven, Hans

AU - Spelbrink, Johannes N.

AU - Vaz, Frederic M.

AU - Pras-Raves, Mia

AU - Ploski, Rafal

AU - Pronicka, Ewa

AU - Klein, Christine

AU - Willemsen, Michel A. A. P.

AU - de Brouwer, Arjan P. M.

AU - Prokisch, Holger

AU - Katsanis, Nicholas

AU - Wevers, Ron A.

PY - 2015/2/5

Y1 - 2015/2/5

U2 - 10.1016/j.ajhg.2014.12.013

DO - 10.1016/j.ajhg.2014.12.013

M3 - Article

VL - 96

SP - 245

EP - 257

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -