Literature DB >> 28214268

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.

Peter Hackman1, Bjarne Udd2, Carsten G Bönnemann3, Ana Ferreiro4.   

Abstract

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Year:  2017        PMID: 28214268     DOI: 10.1016/j.nmd.2017.01.009

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


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  12 in total

1.  Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Authors:  Marco Savarese; Lorenzo Maggi; Anna Vihola; Per Harald Jonson; Giorgio Tasca; Lucia Ruggiero; Luca Bello; Francesca Magri; Teresa Giugliano; Annalaura Torella; Anni Evilä; Giuseppina Di Fruscio; Olivier Vanakker; Sara Gibertini; Liliana Vercelli; Alessandra Ruggieri; Carlo Antozzi; Helena Luque; Sandra Janssens; Maria Barbara Pasanisi; Chiara Fiorillo; Monika Raimondi; Manuela Ergoli; Luisa Politano; Claudio Bruno; Anna Rubegni; Marika Pane; Filippo M Santorelli; Carlo Minetti; Corrado Angelini; Jan De Bleecker; Maurizio Moggio; Tiziana Mongini; Giacomo Pietro Comi; Lucio Santoro; Eugenio Mercuri; Elena Pegoraro; Marina Mora; Peter Hackman; Bjarne Udd; Vincenzo Nigro
Journal:  JAMA Neurol       Date:  2018-05-01       Impact factor: 18.302

2.  Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Authors:  Guangyu Wang; Xiaoqing Lv; Ling Xu; Rui Zhang; Chuanzhu Yan; Pengfei Lin
Journal:  Neurol Sci       Date:  2022-03-03       Impact factor: 3.830

3.  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

4.  Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Authors:  Elizabeth Harris; Ana Topf; Rita Barresi; Judith Hudson; Helen Powell; James Tellez; Debbie Hicks; Anna Porter; Marta Bertoli; Teresinha Evangelista; Chiara Marini-Betollo; Ólafur Magnússon; Monkol Lek; Daniel MacArthur; Kate Bushby; Hanns Lochmüller; Volker Straub
Journal:  Orphanet J Rare Dis       Date:  2017-09-06       Impact factor: 4.123

5.  The complexity of titin splicing pattern in human adult skeletal muscles.

Authors:  Marco Savarese; Per Harald Jonson; Sanna Huovinen; Lars Paulin; Petri Auvinen; Bjarne Udd; Peter Hackman
Journal:  Skelet Muscle       Date:  2018-03-29       Impact factor: 4.912

Review 6.  Update on Congenital Myopathies in Adulthood.

Authors:  George Konstantinos Papadimas; Sophia Xirou; Evangelia Kararizou; Constantinos Papadopoulos
Journal:  Int J Mol Sci       Date:  2020-05-24       Impact factor: 5.923

Review 7.  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Authors:  Heinz Jungbluth; Susan Treves; Francesco Zorzato; Anna Sarkozy; Julien Ochala; Caroline Sewry; Rahul Phadke; Mathias Gautel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2018-02-02       Impact factor: 42.937

Review 8.  Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Authors:  Marco Savarese; Salla Välipakka; Mridul Johari; Peter Hackman; Bjarne Udd
Journal:  J Neuromuscul Dis       Date:  2020

9.  The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Authors:  Liang Wang; Victor Wei Zhang; Shaoyuan Li; Huan Li; Yiming Sun; Jing Li; Yuling Zhu; Ruojie He; Jinfu Lin; Cheng Zhang
Journal:  Orphanet J Rare Dis       Date:  2018-08-14       Impact factor: 4.123

10.  Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Authors:  Emily C Oates; Kristi J Jones; Sandra Donkervoort; Amanda Charlton; Susan Brammah; John E Smith; James S Ware; Kyle S Yau; Lindsay C Swanson; Nicola Whiffin; Anthony J Peduto; Adam Bournazos; Leigh B Waddell; Michelle A Farrar; Hugo A Sampaio; Hooi Ling Teoh; Phillipa J Lamont; David Mowat; Robin B Fitzsimons; Alastair J Corbett; Monique M Ryan; Gina L O'Grady; Sarah A Sandaradura; Roula Ghaoui; Himanshu Joshi; Jamie L Marshall; Melinda A Nolan; Simranpreet Kaur; Jaya Punetha; Ana Töpf; Elizabeth Harris; Madhura Bakshi; Casie A Genetti; Minttu Marttila; Ulla Werlauff; Nathalie Streichenberger; Alan Pestronk; Ingrid Mazanti; Jason R Pinner; Carole Vuillerot; Carla Grosmann; Ana Camacho; Payam Mohassel; Meganne E Leach; A Reghan Foley; Diana Bharucha-Goebel; James Collins; Anne M Connolly; Heather R Gilbreath; Susan T Iannaccone; Diana Castro; Beryl B Cummings; Richard I Webster; Leïla Lazaro; John Vissing; Sandra Coppens; Nicolas Deconinck; Ho-Ming Luk; Neil H Thomas; Nicola C Foulds; Marjorie A Illingworth; Sian Ellard; Catriona A McLean; Rahul Phadke; Gianina Ravenscroft; Nanna Witting; Peter Hackman; Isabelle Richard; Sandra T Cooper; Erik-Jan Kamsteeg; Eric P Hoffman; Kate Bushby; Volker Straub; Bjarne Udd; Ana Ferreiro; Kathryn N North; Nigel F Clarke; Monkol Lek; Alan H Beggs; Carsten G Bönnemann; Daniel G MacArthur; Henk Granzier; Mark R Davis; Nigel G Laing
Journal:  Ann Neurol       Date:  2018-06       Impact factor: 10.422

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