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

Autor: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, 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 Hagen, Roberto Fernández-Torrón, 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

Publikováno v: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies

Externí odkaz: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4

Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

Autor: A. López de Munain, A. Guisasola, R. Fernández-Torrón, J. Diaz‐Manera, Gorka Fernández-Eulate, V. Olasagasti, A. F. Formica, Miren Zulaica, M. Maneiro, Aurora Pujol, Juan Bautista Espinal, M. T. I. Gaspar, Agatha Schlüter, Montserrat Ruiz, J. J. Poza

Publikováno v: European journal of neurologyReferences. 27(8)

Background and purpose BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMNs). A series of BSCL2 patients is presented and clinical, neurophysiological and muscle magnetic resonance imaging (MRI) findings are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb7742fcf7b9d552b4895176df42a9a4
https://pubmed.ncbi.nlm.nih.gov/32320108

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

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

Publikováno v: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & 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
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061
https://hdl.handle.net/2078.1/220057

Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

Autor: Miriam Barandiarán, Adolfo López de Munain, Fermin Moreno, Amets Sáenz, Ana Gorostidi, N. Carrera, Jordi Pérez-Tur, Isidro Ferrer, Alberto Bergareche, M. Ruibal, Juan José Poza, David Otaegui, Bixen Olasagasti, Ainhoa Alzualde, Iñaki Fernández-Manchola, Ramón J. Zabalza, M. Urtasun, José Félix Martí Massó, Juan Bautista Espinal, Begoña Indakoetxea, Irune Ruiz, Javier Ruiz-Martínez, J. Olaskoaga

Publikováno v: Biological Psychiatry. 63:946-952

Background There is an increasing interest in the clinico-pathological correlation of mutations in progranulin ( PGRN ) and frontotemporal lobar degeneration (FTLD) complex diseases. We aim to study the PGRN expression variability in patients with di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dea62627803ec03780a5c4d765485beb
https://doi.org/10.1016/j.biopsych.2007.08.015