Literature DB >> 4697975

Rigid spine syndrome: a muscle syndrome in search of a name.

V Dubowitz.   

Abstract

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Year:  1973        PMID： 4697975      PMCID： PMC1644828     

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN： 0035-9157


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  15 in total

Review 1.  The congenital muscular dystrophies: recent advances and molecular insights.

Authors:  Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal:  Pediatr Dev Pathol       Date:  2006 Nov-Dec

2.  Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Authors:  B Moghadaszadeh; I Desguerre; H Topaloglu; F Muntoni; S Pavek; C Sewry; M Mayer; M Fardeau; F M Tomé; P Guicheney
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  The rigid spine syndrome in two sisters.

Authors:  J A Vanneste; P B Augustijn; F C Stam
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-01       Impact factor: 10.154

4.  The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Authors:  E Bertini; R Marini; G Sabetta; G P Palmieri; L G Spagnoli; M L Vaccario; T de Barsy
Journal:  J Neurol       Date:  1986-08       Impact factor: 4.849

5.  Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Authors:  Yuji Okamoto; Hiroshi Takashima; Itsuro Higuchi; Wataru Matsuyama; Masahito Suehara; Yasushi Nishihira; Akihiro Hashiguchi; Ryuki Hirano; Arlene R Ng; Masanori Nakagawa; Shuji Izumo; Mitsuhiro Osame; Kimiyoshi Arimura
Journal:  Neurogenetics       Date:  2006-06-15       Impact factor: 2.660

6.  Rigid spine syndrome in a girl.

Authors:  P Vogel; H H Goebel; D Seitz
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

7.  Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Authors:  Mickael Tordjman; Ivana Dabaj; Pascal Laforet; Adrien Felter; Ana Ferreiro; Moustafa Biyoukar; Bruno Law-Ye; Edmar Zanoteli; Claudia Castiglioni; John Rendu; Christophe Beroud; Alexandre Chamouni; Pascale Richard; Dominique Mompoint; Susana Quijano-Roy; Robert-Yves Carlier
Journal:  Eur Radiol       Date:  2018-05-25       Impact factor: 5.315

8.  Rigid spine syndrome: a noninvasive cardiac evaluation.

Authors:  Joerg-Patrick Stübgen
Journal:  Pediatr Cardiol       Date:  2007-09-05       Impact factor: 1.655

9.  A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Authors:  Valérie Allamand; Pascale Richard; Alain Lescure; Céline Ledeuil; Delphine Desjardin; Nathalie Petit; Corine Gartioux; Ana Ferreiro; Alain Krol; Nadine Pellegrini; J Andoni Urtizberea; Pascale Guicheney
Journal:  EMBO Rep       Date:  2006-02-24       Impact factor: 8.807

10.  Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients.

Authors:  A Jusić
Journal:  J Neurol       Date:  1985       Impact factor: 4.849
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