Literature DB >> 30055862

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Volker Straub1, Alexander Murphy2, Bjarne Udd3.   

Abstract

Entities:  

Mesh:

Year:  2018        PMID: 30055862     DOI: 10.1016/j.nmd.2018.05.007

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


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  74 in total

1.  European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Authors:  Andrea Barp; Pascal Laforet; Luca Bello; Giorgio Tasca; John Vissing; Mauro Monforte; Enzo Ricci; Ariane Choumert; Tanya Stojkovic; Edoardo Malfatti; Elena Pegoraro; Claudio Semplicini; Roberto Stramare; Olivier Scheidegger; Jana Haberlova; Volker Straub; Chiara Marini-Bettolo; Nicoline Løkken; Jordi Diaz-Manera; Jon A Urtizberea; Eugenio Mercuri; Martin Kynčl; Maggie C Walter; Robert Y Carlier
Journal:  J Neurol       Date:  2019-09-25       Impact factor: 4.849

Review 2.  Advancements in magnetic resonance imaging-based biomarkers for muscular dystrophy.

Authors:  Doris G Leung
Journal:  Muscle Nerve       Date:  2019-05-14       Impact factor: 3.217

Review 3.  [Research advances in limb-girdle muscular dystrophy type 2Q].

Authors:  Min Zhang; Dan Lan
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-08

Review 4.  MR imaging of inherited myopathies: a review and proposal of imaging algorithms.

Authors:  Laís Uyeda Aivazoglou; Julio Brandão Guimarães; Thomas M Link; Maria Alice Freitas Costa; Fabiano Nassar Cardoso; Bruno de Mattos Lombardi Badia; Igor Braga Farias; Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira; Alzira Alves de Siqueira Carvalho; André Yui Aihara; Artur da Rocha Corrêa Fernandes
Journal:  Eur Radiol       Date:  2021-04-21       Impact factor: 5.315

5.  HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

Authors:  Andrés Berardo; Xavière Lornage; Mridul Johari; Teresinha Evangelista; Claudia Cejas; Fabio Barroso; Alberto Dubrovsky; Mai Thao Bui; Guy Brochier; Maria Saccoliti; Johann Bohm; Bjarne Udd; Jocelyn Laporte; Norma Beatriz Romero; Ana Lia Taratuto
Journal:  J Neurol       Date:  2019-07-02       Impact factor: 4.849

Review 6.  Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Authors:  Jaakko Sarparanta; Per Harald Jonson; Sabita Kawan; Bjarne Udd
Journal:  Int J Mol Sci       Date:  2020-02-19       Impact factor: 5.923

7.  POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Authors:  E Servián-Morilla; M Cabrera-Serrano; K Johnson; A Pandey; A Ito; E Rivas; T Chamova; N Muelas; T Mongini; S Nafissi; K G Claeys; R P Grewal; M Takeuchi; H Hao; C Bönnemann; O Lopes Abath Neto; L Medne; J Brandsema; A Töpf; A Taneva; J J Vilchez; I Tournev; R S Haltiwanger; H Takeuchi; H Jafar-Nejad; V Straub; Carmen Paradas
Journal:  Acta Neuropathol       Date:  2020-01-03       Impact factor: 17.088

8.  Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.

Authors:  Sabrine Rekik; Salma Sakka; Sawssan Ben Romdhan; Nouha Farhat; Yasmine Baba Amer; Leila Lehkim; François Jérôme Authier; Chokri Mhiri
Journal:  J Mol Neurosci       Date:  2019-08-13       Impact factor: 3.444

9.  A form of muscular dystrophy associated with pathogenic variants in JAG2.

Authors:  Sandra Coppens; Alison M Barnard; Sanna Puusepp; Sander Pajusalu; Katrin Õunap; Dorianmarie Vargas-Franco; Christine C Bruels; Sandra Donkervoort; Lynn Pais; Katherine R Chao; Julia K Goodrich; Eleina M England; Ben Weisburd; Vijay S Ganesh; Sanna Gudmundsson; Anne O'Donnell-Luria; Mait Nigul; Pilvi Ilves; Payam Mohassel; Teepu Siddique; Margherita Milone; Stefan Nicolau; Reza Maroofian; Henry Houlden; Michael G Hanna; Ros Quinlivan; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Sabine Costagliola; Nicolas Deconinck; Hazim Kadhim; Erica Macke; Brendan C Lanpher; Eric W Klee; Anna Łusakowska; Anna Kostera-Pruszczyk; Andreas Hahn; Bertold Schrank; Ichizo Nishino; Masashi Ogasawara; Rasha El Sherif; Tanya Stojkovic; Isabelle Nelson; Gisèle Bonne; Enzo Cohen; Anne Boland-Augé; Jean-François Deleuze; Yao Meng; Ana Töpf; Catheline Vilain; Christina A Pacak; Marie L Rivera-Zengotita; Carsten G Bönnemann; Volker Straub; Penny A Handford; Isabelle Draper; Glenn A Walter; Peter B Kang
Journal:  Am J Hum Genet       Date:  2021-04-15       Impact factor: 11.025

10.  Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.

Authors:  Boel De Paepe; Elise Velghe; Linnea Salminen; Balint Toth; Pieter Olivier; Jan L De Bleecker
Journal:  Acta Neurol Belg       Date:  2021-01-05       Impact factor: 2.396

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