Literature DB >> 14757867

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.

M M O Tonini1, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 14757867      PMCID： PMC1735661          DOI： 10.1136/jmg.2003.010637

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  8 in total

1.  Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Authors:  Richard J F L Lemmers; Mariëlle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvere M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-10-04       Impact factor: 11.025

2.  Clinical features of facioscapulohumeral muscular dystrophy 2.

Authors:  J C de Greef; R J L F Lemmers; P Camaño; J W Day; S Sacconi; M Dunand; B G M van Engelen; S Kiuru-Enari; G W Padberg; A L Rosa; C Desnuelle; S Spuler; M Tarnopolsky; S L Venance; R R Frants; S M van der Maarel; R Tawil
Journal:  Neurology       Date:  2010-10-26       Impact factor: 9.910

3.  Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.

Authors:  Emanuela Teveroni; Marsha Pellegrino; Sabrina Sacconi; Patrizia Calandra; Isabella Cascino; Stefano Farioli-Vecchioli; Angela Puma; Matteo Garibaldi; Roberta Morosetti; Giorgio Tasca; Enzo Ricci; Carlo Pietro Trevisan; Giuliana Galluzzi; Alfredo Pontecorvi; Marco Crescenzi; Giancarlo Deidda; Fabiola Moretti
Journal:  J Clin Invest       Date:  2017-03-06       Impact factor: 14.808

4.  Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient.

Authors:  Giuliana Castello Coatti; Miriam Frangini; Marcos C Valadares; Juliana Plat Gomes; Natalia O Lima; Natale Cavaçana; Amanda F Assoni; Mayra V Pelatti; Alexander Birbrair; Antonio Carlos Pedroso de Lima; Julio M Singer; Francisco Marcelo M Rocha; Giovani Loiola Da Silva; Mario Sergio Mantovani; Lucia Inês Macedo-Souza; Merari F R Ferrari; Mayana Zatz
Journal:  Stem Cell Rev Rep       Date:  2017-10       Impact factor: 5.739

Review 5.  Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

Authors:  Rylie M Hightower; Matthew S Alexander
Journal:  Muscle Nerve       Date:  2017-09-22       Impact factor: 3.217

6.  Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Authors:  Patricia Arashiro; Iris Eisenberg; Alvin T Kho; Antonia M P Cerqueira; Marta Canovas; Helga C A Silva; Rita C M Pavanello; Sergio Verjovski-Almeida; Louis M Kunkel; Mayana Zatz
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-01       Impact factor: 11.205

7.  Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Authors:  G Ricci; M Zatz; R Tupler
Journal:  Curr Mol Med       Date:  2014       Impact factor: 2.222

8.  Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Authors:  Rianne J M Goselink; Tim H A Schreuder; Karlien Mul; Nicol C Voermans; Maaike Pelsma; Imelda J M de Groot; Nens van Alfen; Bas Franck; Thomas Theelen; Richard J Lemmers; Jean K Mah; Silvère M van der Maarel; Baziel G van Engelen; Corrie E Erasmus
Journal:  BMC Neurol       Date:  2016-08-17       Impact factor: 2.474
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.