Literature DB >> 15043716

Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD).

C Wood-Allum1, P Brennan, M Hewitt, J Lowe, L Tyfield, A Wills.   

Abstract

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Mesh：

Year:  2004        PMID： 15043716     DOI： 10.1046/j.0305-1846.2003.00520.x

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  8 in total

1.  Camptocormia: don't forget muscle disease in the movement disorder clinic.

Authors:  Karen M Doherty; Laura Silveira-Moriyama; Nir Giladi; Kailash P Bhatia; Matt Parton; Andrew J Lees
Journal:  J Neurol       Date:  2012-02-17       Impact factor: 4.849

2.  Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Authors:  Peter Reilich; Nicolai Schramm; Benedikt Schoser; Peter Schneiderat; Nicola Strigl-Pill; Josef Müller-Höcker; Wolfram Kress; Andreas Ferbert; Sabine Rudnik-Schöneborn; Johannes Noth; Hanns Lochmüller; Joachim Weis; Maggie C Walter
Journal:  J Neurol       Date:  2010-02-10       Impact factor: 4.849

3.  Camptocormia phenotype of FSHD: a clinical and MRI study on six patients.

Authors:  Berit Jordan; Katharina Eger; Sabrina Koesling; Stephan Zierz
Journal:  J Neurol       Date:  2010-12-17       Impact factor: 4.849

Review 4.  Deciphering transcription dysregulation in FSH muscular dystrophy.

Authors:  Melanie Ehrlich; Michelle Lacey
Journal:  J Hum Genet       Date:  2012-06-21       Impact factor: 3.172

5.  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

6.  Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.

Authors:  Lucia Ruggiero; Fabiano Mele; Fiore Manganelli; Dario Bruzzese; Giulia Ricci; Liliana Vercelli; Monica Govi; Antonio Vallarola; Silvia Tripodi; Luisa Villa; Antonio Di Muzio; Marina Scarlato; Elisabetta Bucci; Giovanni Antonini; Lorenzo Maggi; Carmelo Rodolico; Giuliano Tomelleri; Massimiliano Filosto; Stefano Previtali; Corrado Angelini; Angela Berardinelli; Elena Pegoraro; Maurizio Moggio; Tiziana Mongini; Gabriele Siciliano; Lucio Santoro; Rossella Tupler
Journal:  JAMA Netw Open       Date:  2020-05-01

7.  Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Authors:  Olivia Schreiber; Peter Schneiderat; Wolfram Kress; Bernd Rautenstrauss; Jan Senderek; Benedikt Schoser; Maggie C Walter
Journal:  BMC Med Genet       Date:  2013-09-16       Impact factor: 2.103

Review 8.  Pathophysiological Concepts and Treatment of Camptocormia.

Authors:  N G Margraf; A Wrede; G Deuschl; W J Schulz-Schaeffer
Journal:  J Parkinsons Dis       Date:  2016-06-16       Impact factor: 5.568
  8 in total

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