Literature DB >> 1822799

Diagnostic criteria for facioscapulohumeral muscular dystrophy.

G W Padberg1, P W Lunt, M Koch, M Fardeau.   

Abstract

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Mesh：

Year:  1991        PMID： 1822799     DOI： 10.1016/0960-8966(91)90094-9

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


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  68 in total

Review 1.  Respiratory muscle fibres: specialisation and plasticity.

Authors:  B Polla; G D'Antona; R Bottinelli; C Reggiani
Journal:  Thorax       Date:  2004-09       Impact factor: 9.139

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.  Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.

Authors:  Giacomo Della Marca; Francesca Pantanali; Roberto Frusciante; Emanuele Scarano; Alessandro Cianfoni; Lea Calò; Serena Dittoni; Catello Vollono; Anna Losurdo; Elisa Testani; Salvatore Colicchio; Valentina Gnoni; Elisabetta Iannaccone; Benedetto Farina; Tommaso Pirronti; Pietro A Tonali; Enzo Ricci
Journal:  Sleep Breath       Date:  2010-02-20       Impact factor: 2.816

Review 4.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

5.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Authors:  Sabrina Sacconi; Richard J L F Lemmers; Judit Balog; Patrick J van der Vliet; Pauline Lahaut; Merlijn P van Nieuwenhuizen; Kirsten R Straasheijm; Rashmie D Debipersad; Marianne Vos-Versteeg; Leonardo Salviati; Alberto Casarin; Elena Pegoraro; Rabi Tawil; Egbert Bakker; Stephen J Tapscott; Claude Desnuelle; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2013-09-26       Impact factor: 11.025

6.  Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

Authors:  M Upadhyaya; J Maynard; M T Rogers; P W Lunt; P Jardine; D Ravine; P S Harper
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

7.  Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Authors:  Mirjam Larsen; Simone Rost; Nady El Hajj; Andreas Ferbert; Marcus Deschauer; Maggie C Walter; Benedikt Schoser; Pawel Tacik; Wolfram Kress; Clemens R Müller
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

8.  A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.

Authors:  Marina Scarlato; Arturo Nuara; Simonetta Gerevini; Sara Benedetti; Paolo Rossi; Maurizio Ferrari; Stefano Carlo Previtali
Journal:  J Neurol       Date:  2014-12-16       Impact factor: 4.849

9.  A multinational study on motor function in early-onset FSHD.

Authors:  Jean K Mah; Jia Feng; Marni B Jacobs; Tina Duong; Kate Carroll; Katy de Valle; Cara L Carty; Lauren P Morgenroth; Michela Guglieri; Monique M Ryan; Paula R Clemens; Mathula Thangarajh; Richard Webster; Edward Smith; Anne M Connolly; Craig M McDonald; Peter Karachunski; Mar Tulinius; Amy Harper; Avital Cnaan; Yi-Wen Chen
Journal:  Neurology       Date:  2018-03-14       Impact factor: 9.910

Review 10.  The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.

Authors:  Daphne Selvaggia Cabianca; Davide Gabellini
Journal:  J Cell Biol       Date:  2010-12-13       Impact factor: 10.539
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