Literature DB >> 18274805

Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.

V Mihaylova, T Müller, I Petrova, I Tournev, S Cherninkova, M C Walter, M Deschauer.   

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Year:  2008        PMID： 18274805     DOI： 10.1007/s00415-008-0769-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids.

Authors:  M VICTOR; R HAYES; R D ADAMS
Journal:  N Engl J Med       Date:  1962-12-20       Impact factor: 91.245

2.  Neurogenic involvement in a case of oculopharyngeal muscular dystrophy.

Authors:  Yassine Boukriche; Thierry Maisonobe; Catherine Masson
Journal:  Muscle Nerve       Date:  2002-01       Impact factor: 3.217

3.  Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Authors:  B Brais; J P Bouchard; Y G Xie; D L Rochefort; N Chrétien; F M Tomé; R G Lafrenière; J M Rommens; E Uyama; O Nohira; S Blumen; A D Korczyn; P Heutink; J Mathieu; A Duranceau; F Codère; M Fardeau; G A Rouleau; A D Korcyn
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

4.  GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.

Authors:  M Mirabella; G Silvestri; G de Rosa; S Di Giovanni; A Di Muzio; A Uncini; P Tonali; S Servidei
Journal:  Neurology       Date:  2000-02-08       Impact factor: 9.910

5.  Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.

Authors:  P C Scacheri; C Garcia; R Hébert; E P Hoffman
Journal:  Am J Med Genet       Date:  1999-10-29

6.  Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

Authors:  M E Hill; G A Creed; T F McMullan; A G Tyers; D Hilton-Jones; D O Robinson; S R Hammans
Journal:  Brain       Date:  2001-03       Impact factor: 13.501

7.  Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.

Authors:  Mika Nakamoto; Satoshi Nakano; Shingo Kawashima; Masafumi Ihara; Yo Nishimura; Akiyo Shinde; Akira Kakizuka
Journal:  Arch Neurol       Date:  2002-03

8.  Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.

Authors:  T Müller; M Deschauer; F Kolbe-Fehr; St Zierz
Journal:  J Neurol       Date:  2006-04-20       Impact factor: 4.849

9.  [Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].

Authors:  Dainari Nakashima; Hideto Nakajima; Shimon Ishida; Masakazu Sugino; Fumiharu Kimura; Toshiaki Hanafusa
Journal:  Rinsho Shinkeigaku       Date:  2003-09

10.  Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

Authors:  Barbara M Van Der Sluijs; Lies H Hoefsloot; George W Padberg; Silvère M Van Der Maarel; Baziel G M Van Engelen
Journal:  J Neurol       Date:  2003-11       Impact factor: 4.849
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