PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Bader Alhaddad; Anna Schossig; Tobias B Haack; Reka Kovács-Nagy; Matthias C Braunisch; Christine Makowski; Jan Senderek; Katharina Vill; Wolfgang Müller-Felber; Tim M Strom; Birgit Krabichler; Peter Freisinger; Charu Deshpande; Tilman Polster; Nicole I Wolf; Isabelle Desguerre; Friedrich Wörmann; Agnès Rötig; Uwe Ahting; Robert Kopajtich; Holger Prokisch; Thomas Meitinger; René Feichtinger; Johannes A. Mayr; Heinz Jungbluth; Michael Hubmann; Johannes Zschocke; Felix Distelmaier; Johannes Koch

doi:10.1055/s-0038-1661396

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Bader Alhaddad, Anna Schossig, Tobias B Haack, Reka Kovács-Nagy, Matthias C Braunisch, Christine Makowski, Jan Senderek, Katharina Vill, Wolfgang Müller-Felber, Tim M Strom, Birgit Krabichler, Peter Freisinger, Charu Deshpande, Tilman Polster, Nicole I Wolf, Isabelle Desguerre, Friedrich Wörmann, Agnès Rötig, Uwe Ahting, Robert KopajtichHolger Prokisch, Thomas Meitinger, René Feichtinger (Co-author), Johannes A. Mayr (Co-author), Heinz Jungbluth, Michael Hubmann, Johannes Zschocke, Felix Distelmaier, Johannes Koch (Last author)

Department of Pediatrics

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

11 Citations (Web of Science)

Original language	English
Pages (from-to)	330-338
Journal	NEUROPEDIATRICS
Volume	49
Issue number	5
DOIs	https://doi.org/10.1055/s-0038-1661396
Publication status	Published - 2018

Keywords

LINKAGE ANALYSIS
APOPTOSIS
CDC42GAP
MUTATION
NM23-H1
BNIP-2

Access to Document

10.1055/s-0038-1661396

Cite this

Alhaddad, B., Schossig, A., Haack, T. B., Kovács-Nagy, R., Braunisch, M. C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T. M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N. I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U., ... Koch, J. (2018). PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. NEUROPEDIATRICS , 49(5), 330-338. https://doi.org/10.1055/s-0038-1661396

Alhaddad, Bader ; Schossig, Anna ; Haack, Tobias B et al. / PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. In: NEUROPEDIATRICS 2018 ; Vol. 49, No. 5. pp. 330-338.

@article{0ee1e133cfc5487e8e43e100465a2f1a,

title = "PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.",

keywords = "LINKAGE ANALYSIS, APOPTOSIS, CDC42GAP, MUTATION, NM23-H1, BNIP-2",

author = "Bader Alhaddad and Anna Schossig and Haack, {Tobias B} and Reka Kov{\'a}cs-Nagy and Braunisch, {Matthias C} and Christine Makowski and Jan Senderek and Katharina Vill and Wolfgang M{\"u}ller-Felber and Strom, {Tim M} and Birgit Krabichler and Peter Freisinger and Charu Deshpande and Tilman Polster and Wolf, {Nicole I} and Isabelle Desguerre and Friedrich W{\"o}rmann and Agn{\`e}s R{\"o}tig and Uwe Ahting and Robert Kopajtich and Holger Prokisch and Thomas Meitinger and Ren{\'e} Feichtinger and Mayr, {Johannes A.} and Heinz Jungbluth and Michael Hubmann and Johannes Zschocke and Felix Distelmaier and Johannes Koch",

note = "Feichtinger, Mayr, Koch: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria ",

year = "2018",

doi = "10.1055/s-0038-1661396",

language = "English",

volume = "49",

pages = "330--338",

journal = "NEUROPEDIATRICS ",

issn = "0174-304X",

publisher = "Thieme Medical Publishers, US ",

number = "5",

}

Alhaddad, B, Schossig, A, Haack, TB, Kovács-Nagy, R, Braunisch, MC, Makowski, C, Senderek, J, Vill, K, Müller-Felber, W, Strom, TM, Krabichler, B, Freisinger, P, Deshpande, C, Polster, T, Wolf, NI, Desguerre, I, Wörmann, F, Rötig, A, Ahting, U, Kopajtich, R, Prokisch, H, Meitinger, T, Feichtinger, R , Mayr, JA, Jungbluth, H, Hubmann, M, Zschocke, J, Distelmaier, F & Koch, J 2018, 'PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.', NEUROPEDIATRICS , vol. 49, no. 5, pp. 330-338. https://doi.org/10.1055/s-0038-1661396

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. / Alhaddad, Bader; Schossig, Anna; Haack, Tobias B et al.
In: NEUROPEDIATRICS , Vol. 49, No. 5, 2018, p. 330-338.

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

TY - JOUR

T1 - PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

AU - Alhaddad, Bader

AU - Schossig, Anna

AU - Haack, Tobias B

AU - Kovács-Nagy, Reka

AU - Braunisch, Matthias C

AU - Makowski, Christine

AU - Senderek, Jan

AU - Vill, Katharina

AU - Müller-Felber, Wolfgang

AU - Strom, Tim M

AU - Krabichler, Birgit

AU - Freisinger, Peter

AU - Deshpande, Charu

AU - Polster, Tilman

AU - Wolf, Nicole I

AU - Desguerre, Isabelle

AU - Wörmann, Friedrich

AU - Rötig, Agnès

AU - Ahting, Uwe

AU - Kopajtich, Robert

AU - Prokisch, Holger

AU - Meitinger, Thomas

AU - Feichtinger, René

AU - Mayr, Johannes A.

AU - Jungbluth, Heinz

AU - Hubmann, Michael

AU - Zschocke, Johannes

AU - Distelmaier, Felix

AU - Koch, Johannes

N1 - Feichtinger, Mayr, Koch: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria

PY - 2018

Y1 - 2018

KW - LINKAGE ANALYSIS

KW - APOPTOSIS

KW - CDC42GAP

KW - MUTATION

KW - NM23-H1

KW - BNIP-2

U2 - 10.1055/s-0038-1661396

DO - 10.1055/s-0038-1661396

M3 - Original Article

C2 - 29940663

SN - 0174-304X

VL - 49

SP - 330

EP - 338

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 5

ER -

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C et al. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. NEUROPEDIATRICS . 2018;49(5):330-338. doi: 10.1055/s-0038-1661396