CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Saskia Wortmann; Szymon Ziętkiewicz; Maria Kousi; Radek Szklarczyk; Tobias B Haack; Søren 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 Lücke; Katrin Õunap; Riina Zordania; Joy Yaplito-Lee; Hans van Bokhoven; Johannes N Spelbrink; Frédéric 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 Wortmann^* (First author), Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B Haack, Søren 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 LückeKatrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N Spelbrink, Frédéric 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 › Original Article › peer-review

87 Citations (Web of Science)

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 - 2015

Keywords

ANKYRIN REPEAT
PROTEINS
ATPASES
DISEASE
PATIENT

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10.1016/j.ajhg.2014.12.013

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Wortmann, S., Ziętkiewicz, 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 ; Ziętkiewicz, Szymon ; Kousi, Maria et al. / 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.",

keywords = "ANKYRIN REPEAT, PROTEINS, ATPASES, DISEASE, PATIENT",

author = "Saskia Wortmann and Szymon Zi{\c e}tkiewicz and Maria Kousi and Radek Szklarczyk and Haack, {Tobias B} and Gersting, {S{\o}ren 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 L{\"u}cke and Katrin {\~O}unap and Riina Zordania and Joy Yaplito-Lee and {van Bokhoven}, Hans and Spelbrink, {Johannes N} and Vaz, {Fr{\'e}d{\'e}ric 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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doi = "10.1016/j.ajhg.2014.12.013",

language = "English",

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Wortmann, S, Ziętkiewicz, 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, Lücke, T, Õunap, 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 (First author); Ziętkiewicz, Szymon; Kousi, Maria et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 96, No. 2, 2015, p. 245-257.

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

TY - JOUR

T1 - CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

AU - Wortmann, Saskia

AU - Ziętkiewicz, Szymon

AU - Kousi, Maria

AU - Szklarczyk, Radek

AU - Haack, Tobias B

AU - Gersting, Søren 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 - Lücke, Thomas

AU - Õunap, Katrin

AU - Zordania, Riina

AU - Yaplito-Lee, Joy

AU - van Bokhoven, Hans

AU - Spelbrink, Johannes N

AU - Vaz, Frédéric 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

Y1 - 2015

KW - ANKYRIN REPEAT

KW - PROTEINS

KW - ATPASES

KW - DISEASE

KW - PATIENT

U2 - 10.1016/j.ajhg.2014.12.013

DO - 10.1016/j.ajhg.2014.12.013

M3 - Original Article

C2 - 25597510

SN - 0002-9297

VL - 96

SP - 245

EP - 257

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Wortmann S, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW et al. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. AMERICAN JOURNAL OF HUMAN GENETICS . 2015;96(2):245-257. doi: 10.1016/j.ajhg.2014.12.013