Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Topf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Lusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der HagenRoberto Fernandez-Torron, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
Artikelnummer23
TidskriftSkeletal Muscle
Volym8
Antal sidor12
ISSN2044-5040
DOI
StatusPublicerad - 30 jul 2018
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper
  • 1182 Biokemi, cell- och molekylärbiologi

Citera det här

Johnson, Katherine ; Bertoli, Marta ; Phillips, Lauren ; Topf, Ana ; Van den Bergh, Peter ; Vissing, John ; Witting, Nanna ; Nafissi, Shahriar ; Jamal-Omidi, Shirin ; Lusakowska, Anna ; Kostera-Pruszczyk, Anna ; Potulska-Chromik, Anna ; Deconinck, Nicolas ; Wallgren-Pettersson, Carina ; Strang-Karlsson, Sonja ; Colomer, Jaume ; Claeys, Kristl G. ; De Ridder, Willem ; Baets, Jonathan ; von der Hagen, Maja ; Fernandez-Torron, Roberto ; Zulaica Ijurco, Miren ; Espinal Valencia, Juan Bautista ; Hahn, Andreas ; Durmus, Hacer ; Willis, Tracey ; Xu, Liwen ; Valkanas, Elise ; Mullen, Thomas E. ; Lek, Monkol ; MacArthur, Daniel G. ; Straub, Volker. / Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. I: Skeletal Muscle. 2018 ; Vol. 8.
@article{e4c039944b994de0983ebe7f58596208,
title = "Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness",
keywords = "Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, CONGENITAL MUSCULAR-DYSTROPHY, WALKER-WARBURG-SYNDROME, EYE-BRAIN DISEASE, ALPHA-DYSTROGLYCAN, MENTAL-RETARDATION, POMT2 MUTATIONS, SKELETAL-MUSCLE, DEFECTIVE GLYCOSYLATION, ABNORMAL GLYCOSYLATION, GLYCOPROTEIN COMPLEX, 3111 Biomedicine, 1182 Biochemistry, cell and molecular biology",
author = "Katherine Johnson and Marta Bertoli and Lauren Phillips and Ana Topf and {Van den Bergh}, Peter and John Vissing and Nanna Witting and Shahriar Nafissi and Shirin Jamal-Omidi and Anna Lusakowska and Anna Kostera-Pruszczyk and Anna Potulska-Chromik and Nicolas Deconinck and Carina Wallgren-Pettersson and Sonja Strang-Karlsson and Jaume Colomer and Claeys, {Kristl G.} and {De Ridder}, Willem and Jonathan Baets and {von der Hagen}, Maja and Roberto Fernandez-Torron and {Zulaica Ijurco}, Miren and {Espinal Valencia}, {Juan Bautista} and Andreas Hahn and Hacer Durmus and Tracey Willis and Liwen Xu and Elise Valkanas and Mullen, {Thomas E.} and Monkol Lek and MacArthur, {Daniel G.} and Volker Straub",
year = "2018",
month = "7",
day = "30",
doi = "10.1186/s13395-018-0170-1",
language = "English",
volume = "8",
journal = "Skeletal Muscle",
issn = "2044-5040",
publisher = "BMC",

}

Johnson, K, Bertoli, M, Phillips, L, Topf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Lusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, KG, De Ridder, W, Baets, J, von der Hagen, M, Fernandez-Torron, R, Zulaica Ijurco, M, Espinal Valencia, JB, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, TE, Lek, M, MacArthur, DG & Straub, V 2018, 'Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness', Skeletal Muscle, vol. 8, 23. https://doi.org/10.1186/s13395-018-0170-1

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. / Johnson, Katherine; Bertoli, Marta; Phillips, Lauren; Topf, Ana; Van den Bergh, Peter; Vissing, John; Witting, Nanna; Nafissi, Shahriar; Jamal-Omidi, Shirin; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Potulska-Chromik, Anna; Deconinck, Nicolas; Wallgren-Pettersson, Carina; Strang-Karlsson, Sonja; Colomer, Jaume; Claeys, Kristl G.; De Ridder, Willem; Baets, Jonathan; von der Hagen, Maja; Fernandez-Torron, Roberto; Zulaica Ijurco, Miren; Espinal Valencia, Juan Bautista; Hahn, Andreas; Durmus, Hacer; Willis, Tracey; Xu, Liwen; Valkanas, Elise; Mullen, Thomas E.; Lek, Monkol; MacArthur, Daniel G.; Straub, Volker.

I: Skeletal Muscle, Vol. 8, 23, 30.07.2018.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

AU - Johnson, Katherine

AU - Bertoli, Marta

AU - Phillips, Lauren

AU - Topf, Ana

AU - Van den Bergh, Peter

AU - Vissing, John

AU - Witting, Nanna

AU - Nafissi, Shahriar

AU - Jamal-Omidi, Shirin

AU - Lusakowska, Anna

AU - Kostera-Pruszczyk, Anna

AU - Potulska-Chromik, Anna

AU - Deconinck, Nicolas

AU - Wallgren-Pettersson, Carina

AU - Strang-Karlsson, Sonja

AU - Colomer, Jaume

AU - Claeys, Kristl G.

AU - De Ridder, Willem

AU - Baets, Jonathan

AU - von der Hagen, Maja

AU - Fernandez-Torron, Roberto

AU - Zulaica Ijurco, Miren

AU - Espinal Valencia, Juan Bautista

AU - Hahn, Andreas

AU - Durmus, Hacer

AU - Willis, Tracey

AU - Xu, Liwen

AU - Valkanas, Elise

AU - Mullen, Thomas E.

AU - Lek, Monkol

AU - MacArthur, Daniel G.

AU - Straub, Volker

PY - 2018/7/30

Y1 - 2018/7/30

KW - Whole-exome sequencing

KW - Dystroglycanopathies

KW - Limb-girdle muscle weakness

KW - CONGENITAL MUSCULAR-DYSTROPHY

KW - WALKER-WARBURG-SYNDROME

KW - EYE-BRAIN DISEASE

KW - ALPHA-DYSTROGLYCAN

KW - MENTAL-RETARDATION

KW - POMT2 MUTATIONS

KW - SKELETAL-MUSCLE

KW - DEFECTIVE GLYCOSYLATION

KW - ABNORMAL GLYCOSYLATION

KW - GLYCOPROTEIN COMPLEX

KW - 3111 Biomedicine

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.1186/s13395-018-0170-1

DO - 10.1186/s13395-018-0170-1

M3 - Article

VL - 8

JO - Skeletal Muscle

JF - Skeletal Muscle

SN - 2044-5040

M1 - 23

ER -