Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Rachel Straussberg; Gudrun Schottmann; Menachem Sadeh; Esther Gill; Franziska Seifert; Ayelet Halevy; Kaiyal Qassem; John Rendu; Peter F.M. van der Ven; Werner Stenzel; Markus Schuelke

doi:10.1007/s00401-016-1602-9

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Rachel Straussberg, Gudrun Schottmann, Menachem Sadeh, Esther Gill, Franziska Seifert, Ayelet Halevy, Kaiyal Qassem, John Rendu, Peter F.M. van der Ven, Werner Stenzel, Markus Schuelke^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Letter › peer-review

17 Scopus citations

Original language	English
Pages (from-to)	475-478
Number of pages	4
Journal	Acta Neuropathologica
Volume	132
Issue number	3
DOIs	https://doi.org/10.1007/s00401-016-1602-9
State	Published - 1 Sep 2016

Funding

Funders	Funder number
Deutsche Forschungsgemeinschaft	Exc 257, SFB665 TP C4

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10.1007/s00401-016-1602-9

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title = "Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects",

author = "Rachel Straussberg and Gudrun Schottmann and Menachem Sadeh and Esther Gill and Franziska Seifert and Ayelet Halevy and Kaiyal Qassem and John Rendu and {van der Ven}, {Peter F.M.} and Werner Stenzel and Markus Schuelke",

note = "Funding Information: The authors thank the patients and their family for participating in the study. We gratefully acknowledge the expert technical support of Angelika Zwirner and Corinna Preu{\ss}e. The study was supported by the Deutsche Forschungsgemeinschaft (SFB665 TP C4 and Exc 257) to MS.",

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T1 - Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

AU - Straussberg, Rachel

AU - Schottmann, Gudrun

AU - Sadeh, Menachem

AU - Gill, Esther

AU - Seifert, Franziska

AU - Halevy, Ayelet

AU - Qassem, Kaiyal

AU - Rendu, John

AU - van der Ven, Peter F.M.

AU - Stenzel, Werner

AU - Schuelke, Markus

N1 - Funding Information: The authors thank the patients and their family for participating in the study. We gratefully acknowledge the expert technical support of Angelika Zwirner and Corinna Preuße. The study was supported by the Deutsche Forschungsgemeinschaft (SFB665 TP C4 and Exc 257) to MS.

PY - 2016/9/1

Y1 - 2016/9/1

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U2 - 10.1007/s00401-016-1602-9

DO - 10.1007/s00401-016-1602-9

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AN - SCOPUS:84982863868

SN - 0001-6322

VL - 132

SP - 475

EP - 478

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 3

ER -

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

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