Literature DB >> 28669132

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease.

Jodi Warman Chardon1,2,3, Volker Straub3.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28669132     DOI： 10.1055/s-0037-1604111

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  5 in total

1.  Value of structured reporting in neuromuscular disorders.

Authors:  Francesco Alessandrino; Lara Cristiano; Claudia Maria Cinnante; Tommaso Tartaglione; Simonetta Gerevini; Tommaso Verdolotti; Giovanna Stefania Colafati; Emanuele Ghione; Raimondo Vitale; Lorenzo Peverelli; Claudia Brogna; Angela Berardinelli; Maurizio Moggio; Eugenio M Mercuri; Anna Pichiecchio
Journal:  Radiol Med       Date:  2019-03-09       Impact factor: 3.469

2.  Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Authors:  Sandra Donkervoort; Carl E Kutzner; Ying Hu; Xavière Lornage; John Rendu; Tanya Stojkovic; Jonathan Baets; Sarah B Neuhaus; Jantima Tanboon; Reza Maroofian; Véronique Bolduc; Magdalena Mroczek; Stefan Conijn; Nancy L Kuntz; Ana Töpf; Soledad Monges; Fabiana Lubieniecki; Riley M McCarty; Katherine R Chao; Serena Governali; Johann Böhm; Kanokwan Boonyapisit; Edoardo Malfatti; Tumtip Sangruchi; Iren Horkayne-Szakaly; Carola Hedberg-Oldfors; Stephanie Efthymiou; Satoru Noguchi; Sarah Djeddi; Aritoshi Iida; Gabriella di Rosa; Chiara Fiorillo; Vincenzo Salpietro; Niklas Darin; Julien Fauré; Henry Houlden; Anders Oldfors; Ichizo Nishino; Willem de Ridder; Volker Straub; Wojciech Pokrzywa; Jocelyn Laporte; A Reghan Foley; Norma B Romero; Coen Ottenheijm; Thorsten Hoppe; Carsten G Bönnemann
Journal:  Am J Hum Genet       Date:  2020-11-19       Impact factor: 11.025

3.  GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.

Authors:  Tyler Soule; Cecile Phan; Chris White; Lothar Resch; Atilano Lacson; Kristina Martens; Gerald Pfeffer
Journal:  Front Neurol       Date:  2018-11-08       Impact factor: 4.003

4.  Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.

Authors:  Mehul Gupta; Ana Nikolic; Denise Ng; Kristina Martens; Hamid Ebadi; Sameer Chhibber; Gerald Pfeffer
Journal:  Front Neurol       Date:  2019-05-24       Impact factor: 4.003

5.  Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency.

Authors:  Kinga I Gawlik; Zandra Körner; Bruno M Oliveira; Madeleine Durbeej
Journal:  Sci Rep       Date:  2019-10-04       Impact factor: 4.379
  5 in total

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