Bi-allelic mutations in

Miroslav P Milev; Claudio Graziano; Daniela Karall; Willemijn F E Kuper; Noraldin Al-Deri; Duccio Maria Cordelli; Tobias B Haack; Katharina Danhauser; Arcangela Iuso; Flavia Palombo; Tommaso Pippucci; Holger Prokisch; Djenann Saint-Dic; Marco Seri; Daniela Stanga; Giovanna Cenacchi; Koen L I van Gassen; Johannes Zschocke; Christine Fauth; Johannes A. Mayr; Michael Sacher; Peter M van Hasselt

doi:10.1136/jmedgenet-2018-105441

Bi-allelic mutations in

Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo, Tommaso Pippucci, Holger Prokisch, Djenann Saint-Dic, Marco Seri, Daniela Stanga, Giovanna Cenacchi, Koen L I van Gassen, Johannes Zschocke, Christine Fauth, Johannes A. Mayr (Co-author)Michael Sacher, Peter M van Hasselt

Department of Pediatrics

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

32 Citations (Web of Science)

Original language	English
Pages (from-to)	753-764
Journal	JOURNAL OF MEDICAL GENETICS
Volume	55
Issue number	11
DOIs	https://doi.org/10.1136/jmedgenet-2018-105441
Publication status	Published - 2018

Keywords

MUSCULAR-DYSTROPHY
METABOLIC CRISES
COMPLEX
GOLGI
AUTOPHAGY
PROTEIN
RHABDOMYOLYSIS
IDENTIFICATION
ORGANIZATION
HOMOZYGOSITY

Access to Document

10.1136/jmedgenet-2018-105441

Cite this

Milev, M. P., Graziano, C., Karall, D., Kuper, W. F. E., Al-Deri, N., Cordelli, D. M., Haack, T. B., Danhauser, K., Iuso, A., Palombo, F., Pippucci, T., Prokisch, H., Saint-Dic, D., Seri, M., Stanga, D., Cenacchi, G., van Gassen, K. L. I., Zschocke, J., Fauth, C., ... van Hasselt, P. M. (2018). Bi-allelic mutations in . JOURNAL OF MEDICAL GENETICS , 55(11), 753-764. https://doi.org/10.1136/jmedgenet-2018-105441

Milev, Miroslav P ; Graziano, Claudio ; Karall, Daniela et al. / Bi-allelic mutations in . In: JOURNAL OF MEDICAL GENETICS 2018 ; Vol. 55, No. 11. pp. 753-764.

@article{8e162c4de4c446138e5a2fd9ebb12bb9,

title = "Bi-allelic mutations in ",

keywords = "MUSCULAR-DYSTROPHY, METABOLIC CRISES, COMPLEX, GOLGI, AUTOPHAGY, PROTEIN, RHABDOMYOLYSIS, IDENTIFICATION, ORGANIZATION, HOMOZYGOSITY",

author = "Milev, {Miroslav P} and Claudio Graziano and Daniela Karall and Kuper, {Willemijn F E} and Noraldin Al-Deri and Cordelli, {Duccio Maria} and Haack, {Tobias B} and Katharina Danhauser and Arcangela Iuso and Flavia Palombo and Tommaso Pippucci and Holger Prokisch and Djenann Saint-Dic and Marco Seri and Daniela Stanga and Giovanna Cenacchi and {van Gassen}, {Koen L I} and Johannes Zschocke and Christine Fauth and Mayr, {Johannes A.} and Michael Sacher and {van Hasselt}, {Peter M}",

note = "Mayr, JA: Department of Paediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria ",

year = "2018",

doi = "10.1136/jmedgenet-2018-105441",

language = "English",

volume = "55",

pages = "753--764",

journal = "JOURNAL OF MEDICAL GENETICS ",

issn = "0022-2593",

number = "11",

}

Milev, MP, Graziano, C, Karall, D, Kuper, WFE, Al-Deri, N, Cordelli, DM, Haack, TB, Danhauser, K, Iuso, A, Palombo, F, Pippucci, T, Prokisch, H, Saint-Dic, D, Seri, M, Stanga, D, Cenacchi, G, van Gassen, KLI, Zschocke, J, Fauth, C, Mayr, JA, Sacher, M & van Hasselt, PM 2018, 'Bi-allelic mutations in ', JOURNAL OF MEDICAL GENETICS , vol. 55, no. 11, pp. 753-764. https://doi.org/10.1136/jmedgenet-2018-105441

Bi-allelic mutations in . / Milev, Miroslav P; Graziano, Claudio; Karall, Daniela et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 55, No. 11, 2018, p. 753-764.

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

TY - JOUR

T1 - Bi-allelic mutations in

AU - Milev, Miroslav P

AU - Graziano, Claudio

AU - Karall, Daniela

AU - Kuper, Willemijn F E

AU - Al-Deri, Noraldin

AU - Cordelli, Duccio Maria

AU - Haack, Tobias B

AU - Danhauser, Katharina

AU - Iuso, Arcangela

AU - Palombo, Flavia

AU - Pippucci, Tommaso

AU - Prokisch, Holger

AU - Saint-Dic, Djenann

AU - Seri, Marco

AU - Stanga, Daniela

AU - Cenacchi, Giovanna

AU - van Gassen, Koen L I

AU - Zschocke, Johannes

AU - Fauth, Christine

AU - Mayr, Johannes A.

AU - Sacher, Michael

AU - van Hasselt, Peter M

N1 - Mayr, JA: Department of Paediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria

PY - 2018

Y1 - 2018

KW - MUSCULAR-DYSTROPHY

KW - METABOLIC CRISES

KW - COMPLEX

KW - GOLGI

KW - AUTOPHAGY

KW - PROTEIN

KW - RHABDOMYOLYSIS

KW - IDENTIFICATION

KW - ORGANIZATION

KW - HOMOZYGOSITY

U2 - 10.1136/jmedgenet-2018-105441

DO - 10.1136/jmedgenet-2018-105441

M3 - Original Article

C2 - 30120216

SN - 0022-2593

VL - 55

SP - 753

EP - 764

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 11

ER -

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM et al. Bi-allelic mutations in . JOURNAL OF MEDICAL GENETICS . 2018;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441