WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Julia Vodopiutz; Rainer Seidl; Daniela Prayer; M Imran Khan; Johannes A. Mayr; Berthold Streubel; Jens-Oliver Steiß; Andreas Hahn; Dagmar Csaicsich; Christel Castro; Mirna Assoum; Thomas Müller; Dagmar Wieczorek; Grazia M S Mancini; Carolin E Sadowski; Nicolas Lévy; André Mégarbané; Koumudi Godbole; Denny Schanze; Friedhelm Hildebrandt; Valérie Delague; Andreas R Janecke; Martin Zenker

doi:10.1002/humu.22828

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Julia Vodopiutz, Rainer Seidl, Daniela Prayer, M Imran Khan, Johannes A. Mayr (Co-author), Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M S Mancini, Carolin E Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm HildebrandtValérie Delague, Andreas R Janecke, Martin Zenker

Department of Pediatrics

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

39 Citations (Web of Science)

Original language	English
Pages (from-to)	1021-1028
Journal	HUMAN MUTATION
Volume	36
Issue number	11
DOIs	https://doi.org/10.1002/humu.22828
Publication status	Published - 2015

Keywords

GALLOWAY-MOWAT-SYNDROME
CONGENITAL CEREBELLAR-ATAXIA
NEPHROTIC SYNDROME
PROTEIN
ATROPHY
GENE
PATTERNS
DISORDER
FAMILY
CAMOS

Access to Document

10.1002/humu.22828

Cite this

Vodopiutz, J., Seidl, R., Prayer, D., Khan, M. I., Mayr, J. A., Streubel, B., Steiß, J.-O., Hahn, A., Csaicsich, D., Castro, C., Assoum, M., Müller, T., Wieczorek, D., Mancini, G. M. S., Sadowski, C. E., Lévy, N., Mégarbané, A., Godbole, K., Schanze, D., ... Zenker, M. (2015). WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. HUMAN MUTATION , 36(11), 1021-1028. https://doi.org/10.1002/humu.22828

Vodopiutz, Julia ; Seidl, Rainer ; Prayer, Daniela et al. / WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. In: HUMAN MUTATION 2015 ; Vol. 36, No. 11. pp. 1021-1028.

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title = "WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.",

keywords = "GALLOWAY-MOWAT-SYNDROME, CONGENITAL CEREBELLAR-ATAXIA, NEPHROTIC SYNDROME, PROTEIN, ATROPHY, GENE, PATTERNS, DISORDER, FAMILY, CAMOS",

author = "Julia Vodopiutz and Rainer Seidl and Daniela Prayer and Khan, {M Imran} and Mayr, {Johannes A.} and Berthold Streubel and Jens-Oliver Stei{\ss} and Andreas Hahn and Dagmar Csaicsich and Christel Castro and Mirna Assoum and Thomas M{\"u}ller and Dagmar Wieczorek and Mancini, {Grazia M S} and Sadowski, {Carolin E} and Nicolas L{\'e}vy and Andr{\'e} M{\'e}garban{\'e} and Koumudi Godbole and Denny Schanze and Friedhelm Hildebrandt and Val{\'e}rie Delague and Janecke, {Andreas R} and Martin Zenker",

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

year = "2015",

doi = "10.1002/humu.22828",

language = "English",

volume = "36",

pages = "1021--1028",

journal = "HUMAN MUTATION ",

issn = "1059-7794",

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Vodopiutz, J, Seidl, R, Prayer, D, Khan, MI, Mayr, JA, Streubel, B, Steiß, J-O, Hahn, A, Csaicsich, D, Castro, C, Assoum, M, Müller, T, Wieczorek, D, Mancini, GMS, Sadowski, CE, Lévy, N, Mégarbané, A, Godbole, K, Schanze, D, Hildebrandt, F, Delague, V, Janecke, AR & Zenker, M 2015, 'WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.', HUMAN MUTATION , vol. 36, no. 11, pp. 1021-1028. https://doi.org/10.1002/humu.22828

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. / Vodopiutz, Julia; Seidl, Rainer; Prayer, Daniela et al.
In: HUMAN MUTATION , Vol. 36, No. 11, 2015, p. 1021-1028.

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

TY - JOUR

T1 - WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

AU - Vodopiutz, Julia

AU - Seidl, Rainer

AU - Prayer, Daniela

AU - Khan, M Imran

AU - Mayr, Johannes A.

AU - Streubel, Berthold

AU - Steiß, Jens-Oliver

AU - Hahn, Andreas

AU - Csaicsich, Dagmar

AU - Castro, Christel

AU - Assoum, Mirna

AU - Müller, Thomas

AU - Wieczorek, Dagmar

AU - Mancini, Grazia M S

AU - Sadowski, Carolin E

AU - Lévy, Nicolas

AU - Mégarbané, André

AU - Godbole, Koumudi

AU - Schanze, Denny

AU - Hildebrandt, Friedhelm

AU - Delague, Valérie

AU - Janecke, Andreas R

AU - Zenker, Martin

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

PY - 2015

Y1 - 2015

KW - GALLOWAY-MOWAT-SYNDROME

KW - CONGENITAL CEREBELLAR-ATAXIA

KW - NEPHROTIC SYNDROME

KW - PROTEIN

KW - ATROPHY

KW - GENE

KW - PATTERNS

KW - DISORDER

KW - FAMILY

KW - CAMOS

U2 - 10.1002/humu.22828

DO - 10.1002/humu.22828

M3 - Original Article

C2 - 26123727

SN - 1059-7794

VL - 36

SP - 1021

EP - 1028

JO - HUMAN MUTATION

JF - HUMAN MUTATION

IS - 11

ER -

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B et al. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. HUMAN MUTATION . 2015;36(11):1021-1028. doi: 10.1002/humu.22828