Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Katharina Danhauser; Bader Alhaddad; Christine Makowski; Dorota Piekutowska-Abramczuk; Steffen Syrbe; Natalia Gomez-Ospina; Melanie A Manning; Anna Kostera-Pruszczyk; Claudia Krahn-Peper; Riccardo Berutti; Reka Kovács-Nagy; Mirjana Gusic; Elisabeth Graf; Lucia Laugwitz; Michaela Röblitz; Andreas Wroblewski; Hans Hartmann; Anibh M Das; Eva Bültmann; Fang Fang; Manting Xu; Ulrich A Schatz; Daniela Karall; Herta Zellner; Edda Haberlandt; René Feichtinger; Johannes A. Mayr; Thomas Meitinger; Holger Prokisch; Tim M Strom; Rafał Płoski; Georg F Hoffmann; Maciej Pronicki; Penelope E Bonnen; Susanne Morlot; Tobias B Haack

doi:10.1016/j.ajhg.2018.10.005

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe, Natalia Gomez-Ospina, Melanie A Manning, Anna Kostera-Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Reka Kovács-Nagy, Mirjana Gusic, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M Das, Eva Bültmann, Fang FangManting Xu, Ulrich A Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René Feichtinger (Co-author), Johannes A. Mayr (Co-author), Thomas Meitinger, Holger Prokisch, Tim M Strom, Rafał Płoski, Georg F Hoffmann, Maciej Pronicki, Penelope E Bonnen, Susanne Morlot, Tobias B Haack

Department of Pediatrics

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

45 Citations (Web of Science)

Original language	English
Pages (from-to)	817-825
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	103
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2018.10.005
Publication status	Published - 2018

Keywords

POLY ADP-RIBOSE
POLY(ADP-RIBOSE) GLYCOHYDROLASE
CELL-DEATH
DISEASE
DEGRADATION
DEFICIENCY
ENZYMES

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10.1016/j.ajhg.2018.10.005

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Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M. A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovács-Nagy, R., Gusic, M., Graf, E., Laugwitz, L., Röblitz, M., Wroblewski, A., Hartmann, H., Das, A. M., Bültmann, E., ... Haack, T. B. (2018). Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. AMERICAN JOURNAL OF HUMAN GENETICS , 103(5), 817-825. https://doi.org/10.1016/j.ajhg.2018.10.005

Danhauser, Katharina ; Alhaddad, Bader ; Makowski, Christine et al. / Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. In: AMERICAN JOURNAL OF HUMAN GENETICS 2018 ; Vol. 103, No. 5. pp. 817-825.

@article{f095a037dd3e4576a7cba3d87c261e1b,

title = "Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.",

keywords = "POLY ADP-RIBOSE, POLY(ADP-RIBOSE) GLYCOHYDROLASE, CELL-DEATH, DISEASE, DEGRADATION, DEFICIENCY, ENZYMES",

author = "Katharina Danhauser and Bader Alhaddad and Christine Makowski and Dorota Piekutowska-Abramczuk and Steffen Syrbe and Natalia Gomez-Ospina and Manning, {Melanie A} and Anna Kostera-Pruszczyk and Claudia Krahn-Peper and Riccardo Berutti and Reka Kov{\'a}cs-Nagy and Mirjana Gusic and Elisabeth Graf and Lucia Laugwitz and Michaela R{\"o}blitz and Andreas Wroblewski and Hans Hartmann and Das, {Anibh M} and Eva B{\"u}ltmann and Fang Fang and Manting Xu and Schatz, {Ulrich A} and Daniela Karall and Herta Zellner and Edda Haberlandt and Ren{\'e} Feichtinger and Mayr, {Johannes A.} and Thomas Meitinger and Holger Prokisch and Strom, {Tim M} and Rafa{\l} P{\l}oski and Hoffmann, {Georg F} and Maciej Pronicki and Bonnen, {Penelope E} and Susanne Morlot and Haack, {Tobias B}",

note = "Feichtinger, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Austria",

year = "2018",

doi = "10.1016/j.ajhg.2018.10.005",

language = "English",

volume = "103",

pages = "817--825",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

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Danhauser, K, Alhaddad, B, Makowski, C, Piekutowska-Abramczuk, D, Syrbe, S, Gomez-Ospina, N, Manning, MA, Kostera-Pruszczyk, A, Krahn-Peper, C, Berutti, R, Kovács-Nagy, R, Gusic, M, Graf, E, Laugwitz, L, Röblitz, M, Wroblewski, A, Hartmann, H, Das, AM, Bültmann, E, Fang, F, Xu, M, Schatz, UA, Karall, D, Zellner, H, Haberlandt, E, Feichtinger, R , Mayr, JA, Meitinger, T, Prokisch, H, Strom, TM, Płoski, R, Hoffmann, GF, Pronicki, M, Bonnen, PE, Morlot, S & Haack, TB 2018, 'Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 103, no. 5, pp. 817-825. https://doi.org/10.1016/j.ajhg.2018.10.005

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. / Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 103, No. 5, 2018, p. 817-825.

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

TY - JOUR

T1 - Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

AU - Danhauser, Katharina

AU - Alhaddad, Bader

AU - Makowski, Christine

AU - Piekutowska-Abramczuk, Dorota

AU - Syrbe, Steffen

AU - Gomez-Ospina, Natalia

AU - Manning, Melanie A

AU - Kostera-Pruszczyk, Anna

AU - Krahn-Peper, Claudia

AU - Berutti, Riccardo

AU - Kovács-Nagy, Reka

AU - Gusic, Mirjana

AU - Graf, Elisabeth

AU - Laugwitz, Lucia

AU - Röblitz, Michaela

AU - Wroblewski, Andreas

AU - Hartmann, Hans

AU - Das, Anibh M

AU - Bültmann, Eva

AU - Fang, Fang

AU - Xu, Manting

AU - Schatz, Ulrich A

AU - Karall, Daniela

AU - Zellner, Herta

AU - Haberlandt, Edda

AU - Feichtinger, René

AU - Mayr, Johannes A.

AU - Meitinger, Thomas

AU - Prokisch, Holger

AU - Strom, Tim M

AU - Płoski, Rafał

AU - Hoffmann, Georg F

AU - Pronicki, Maciej

AU - Bonnen, Penelope E

AU - Morlot, Susanne

AU - Haack, Tobias B

N1 - Feichtinger, Mayr: Department of Pediatrics, Paracelsus Medical University Salzburg, Austria

PY - 2018

Y1 - 2018

KW - POLY ADP-RIBOSE

KW - POLY(ADP-RIBOSE) GLYCOHYDROLASE

KW - CELL-DEATH

KW - DISEASE

KW - DEGRADATION

KW - DEFICIENCY

KW - ENZYMES

U2 - 10.1016/j.ajhg.2018.10.005

DO - 10.1016/j.ajhg.2018.10.005

M3 - Original Article

C2 - 30401461

SN - 0002-9297

VL - 103

SP - 817

EP - 825

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 5

ER -

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N et al. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. AMERICAN JOURNAL OF HUMAN GENETICS . 2018;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005