Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Macarena Cabrera-Serrano; Laure Caccavelli; Marco Savarese; Anna Vihola; Manu Jokela; Mridul Johari; Thierry Capiod; Marine Madrange; Enrico Bugiardini; Stefen Brady; Rosaline Quinlivan; Ashirwad Merve; Renata Scalco; David Hilton-Jones; Henry Houlden; Halil Ibrahim Aydin; Serdar Ceylaner; Jerry Vockley; Rhonda L Taylor; Chiara Folland; Aasta Kelly; Hayley Goullee; Emil Ylikallio; Mari Auranen; Henna Tyynismaa; Bjarne Udd; Alistair R R Forrest; Mark R Davis; Drago Bratkovic; Nicholas Manton; Thomas Robertson; Pamela McCombe; Nigel G Laing; Liza Phillips; Pascale de Lonlay; Gianina Ravenscroft

doi:10.1093/brain/awab484

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Jerry Vockley, Rhonda L Taylor, Chiara FollandAasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

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

Original language	English
Article number	awab484
Journal	Brain
DOIs	https://doi.org/10.1093/brain/awab484
Publication status	E-pub ahead of print - 27 Dec 2021
Publication type	A1 Journal article-refereed

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Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Ibrahim Aydin, H., Ceylaner, S., Vockley, J., Taylor, R. L., ... Ravenscroft, G. (2021). Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain, [awab484]. https://doi.org/10.1093/brain/awab484

Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco ; Vihola, Anna ; Jokela, Manu ; Johari, Mridul ; Capiod, Thierry ; Madrange, Marine ; Bugiardini, Enrico ; Brady, Stefen ; Quinlivan, Rosaline ; Merve, Ashirwad ; Scalco, Renata ; Hilton-Jones, David ; Houlden, Henry ; Ibrahim Aydin, Halil ; Ceylaner, Serdar ; Vockley, Jerry ; Taylor, Rhonda L ; Folland, Chiara ; Kelly, Aasta ; Goullee, Hayley ; Ylikallio, Emil ; Auranen, Mari ; Tyynismaa, Henna ; Udd, Bjarne ; Forrest, Alistair R R ; Davis, Mark R ; Bratkovic, Drago ; Manton, Nicholas ; Robertson, Thomas ; McCombe, Pamela ; Laing, Nigel G ; Phillips, Liza ; de Lonlay, Pascale ; Ravenscroft, Gianina. / Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. In: Brain. 2021.

@article{8aeece12be624e67a1020861aeaf8c2c,

title = "Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis",

author = "Macarena Cabrera-Serrano and Laure Caccavelli and Marco Savarese and Anna Vihola and Manu Jokela and Mridul Johari and Thierry Capiod and Marine Madrange and Enrico Bugiardini and Stefen Brady and Rosaline Quinlivan and Ashirwad Merve and Renata Scalco and David Hilton-Jones and Henry Houlden and {Ibrahim Aydin}, Halil and Serdar Ceylaner and Jerry Vockley and Taylor, {Rhonda L} and Chiara Folland and Aasta Kelly and Hayley Goullee and Emil Ylikallio and Mari Auranen and Henna Tyynismaa and Bjarne Udd and Forrest, {Alistair R R} and Davis, {Mark R} and Drago Bratkovic and Nicholas Manton and Thomas Robertson and Pamela McCombe and Laing, {Nigel G} and Liza Phillips and {de Lonlay}, Pascale and Gianina Ravenscroft",

note = "{\textcopyright} The Author(s) 2021. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.",

year = "2021",

month = dec,

day = "27",

doi = "10.1093/brain/awab484",

language = "English",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

}

Cabrera-Serrano, M, Caccavelli, L, Savarese, M, Vihola, A, Jokela, M, Johari, M, Capiod, T, Madrange, M, Bugiardini, E, Brady, S, Quinlivan, R, Merve, A, Scalco, R, Hilton-Jones, D, Houlden, H, Ibrahim Aydin, H, Ceylaner, S, Vockley, J, Taylor, RL, Folland, C, Kelly, A, Goullee, H, Ylikallio, E, Auranen, M, Tyynismaa, H, Udd, B, Forrest, ARR, Davis, MR, Bratkovic, D, Manton, N, Robertson, T, McCombe, P, Laing, NG, Phillips, L, de Lonlay, P & Ravenscroft, G 2021, 'Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis', Brain. https://doi.org/10.1093/brain/awab484

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. / Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Ibrahim Aydin, Halil; Ceylaner, Serdar; Vockley, Jerry; Taylor, Rhonda L; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R R; Davis, Mark R; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; McCombe, Pamela; Laing, Nigel G; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina.

In: Brain, 27.12.2021.

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

TY - JOUR

T1 - Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

AU - Cabrera-Serrano, Macarena

AU - Caccavelli, Laure

AU - Savarese, Marco

AU - Vihola, Anna

AU - Jokela, Manu

AU - Johari, Mridul

AU - Capiod, Thierry

AU - Madrange, Marine

AU - Bugiardini, Enrico

AU - Brady, Stefen

AU - Quinlivan, Rosaline

AU - Merve, Ashirwad

AU - Scalco, Renata

AU - Hilton-Jones, David

AU - Houlden, Henry

AU - Ibrahim Aydin, Halil

AU - Ceylaner, Serdar

AU - Vockley, Jerry

AU - Taylor, Rhonda L

AU - Folland, Chiara

AU - Kelly, Aasta

AU - Goullee, Hayley

AU - Ylikallio, Emil

AU - Auranen, Mari

AU - Tyynismaa, Henna

AU - Udd, Bjarne

AU - Forrest, Alistair R R

AU - Davis, Mark R

AU - Bratkovic, Drago

AU - Manton, Nicholas

AU - Robertson, Thomas

AU - McCombe, Pamela

AU - Laing, Nigel G

AU - Phillips, Liza

AU - de Lonlay, Pascale

AU - Ravenscroft, Gianina

PY - 2021/12/27

Y1 - 2021/12/27

U2 - 10.1093/brain/awab484

DO - 10.1093/brain/awab484

M3 - Article

C2 - 34957489

JO - Brain

JF - Brain

SN - 0006-8950

M1 - awab484

ER -

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

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