Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Schiava, M., Ikenaga, C., Villar-Quiles, R. N., Caballero-Ávila, M., Topf, A., Nishino, I., Kimonis, V., Udd, B., Schoser, B., Zanoteli, E., Souza, P. V. S., Tasca, G., Lloyd, T., Lopez-de Munain, A., Paradas, C., Pegoraro, E., Nadaj-Pakleza, A., De Bleecker, J., Badrising, U., … Diaz-Manera, J. (2022). Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Journal of Neurology, Neurosurgery & Psychiatry, 93(10), 1099–1111. https://doi.org/10.1136/jnnp-2022-328921
Authors:
Marianela Schiava
Chiseko Ikenaga
Rocío Nur Villar-Quiles
Marta Caballero-Ávila
Ana Töpf
Ichizo Nishino
Virginia Kimonis
Bjarne Udd
Benedikt Schoser
Edmar Zanoteli
Paulo Victor Sgobbi Souza
Giorgio Tasca
Thomas Lloyd
Adolfo Lopez-De Munain
Carmen Paradas
Elena Pegoraro
Aleksandra Nadaj-Pakleza
Jan De Bleecker
Umesh Badrising
Alicia Alonso-Jiménez
Anna Kostera-Pruszczyk
Francesc Miralles
Jin-Hong Shin
Jorge Alfredo Bevilacqua
Montse Olivé
Matthias Vorgerd
Rudi Kley
Stefen Brady
Timothy Williams
Cristina Domínguez-González
George K. Papadimas
Jodi Warman-Chardon
Kristl G. Claeys
Marianne de Visser
Nuria Muelas
Pascal LaForet
Edoardo Malfatti
Lindsay N. Alfano
Sruthi S. Nair
Georgios Manousakis
Hani A. Kushlaf
Matthew B. Harms
Christopher Nance
Alba Ramos-Fransi
Carmelo Rodolico
Channa Hewamadduma
Hakan Cetin
Jorge García-García
Endre Pál
Maria Elena Farrugia
Phillipa J. Lamont
Colin Quinn
Velina Nedkova-Hristova
Stojan Peric
Sushan Luo
Anders Oldfors
Kate Taylor
Stuart Ralston
Tanya Stojkovic
Conrad Weihl
Jordi Diaz-Manera
Alicia Martinez-Piñeiro
Anna Kaminska
Anna Mayhew
Anna Rydelius
Anthony Behin
Antonio Toscano
Aurelio Hernández Laín
Beatrice Lannes
Beatriz Velez
Biruta Kierdaszuk
Boel De Paepe
Bruno Eymard
Carla Marco Cazcarra
Carmen Paradasa
Carola Hedberg-Oldfors
Cheryl Longman
Chiara Marini Bettollo
Constantinos Papadopoulos
Corinne Metay
David Hilton-Jones
Edmar Zanotelli
Elizabeth A. Harrington
Ellen Eline
Ellen Gelpi
Eloy Rivas
Gianni Sorarù
Giulia Bisogni
Giuseppe Lucente
Guillaume Bassez
Jean François
Jean-Baptiste Chanson
Jie Lin
Jill Skeoch
Johanna Palmio
Jonathan Baets
Jorge Alonso Pérez
Jorge Díaz
Juan J. Vilchez
Judith Hudson
Kinga Hadzsiev
Luca Bello
Mario Campero
Mario Sabatelli
Marion Masingue
Mauro Monforte
Meredith James
Michela Guglieri
Michio Inoue
Mónica Povedano
Monika Hofer
Natalia Garcia-Angarita
Nicholas Earle
Noemi Vidal Sarró
Pascale Rihard
Peter de Jonghe
Pietro Riguzzi
Pilar Camaño
Raúl Domínguez Rubio
Robert Carlier
Robert Muni-Lofra
Roberto Fernández-Torrón
Rodrigo Alvarez
Sabine Krause
Sarah Leonard-Louis
Sarah Souvannanorath
Sigrid Klotz
Simone Thiele
Sofa Xirou
Teresinha Evangelista
Tiffany Grider
Vidosava Rakocevic-Stojanovic
Volker Straub
Wenhua Zhu
Willem de Ridder
William Kelly
Yoshihiko Saito
Young-Eun Park
Yukako Nishimori
Zarife Sahenk
Affiliated Authors:
Matthew B. Harms
Elizabeth A. Harrington
Columbia Affiliation:
Author Keywords:
muscle disease
genetics
myopathy
incl body myositis
frontotemporal dementia
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Publication Type:
Article
Unique ID:
10.1136/jnnp-2022-328921
PMID:
35896379
DOI:
10.1136/jnnp-2022-328921
Journal:
Journal of Neurology, Neurosurgery and Psychiatry
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: