Literature DB >> 23712824

Friedreich's ataxia associated with subaortic membrane. A rare case.

A Doğan1, H Aksoy, H Simşek.   

Abstract

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Year:  2013        PMID： 23712824     DOI： 10.1007/s00059-013-3812-4

Source DB:  PubMed          Journal:  Herz        ISSN： 0340-9937            Impact factor:   1.443


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  10 in total

1.  The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Authors:  N Bit-Avragim; A Perrot; L Schöls; C Hardt; F R Kreuz; C Zühlke; S Bubel; F Laccone; H P Vogel; R Dietz; K J Osterziel
Journal:  J Mol Med (Berl)       Date:  2001       Impact factor: 4.599

Review 2.  Discrete subvalvular aortic stenosis.

Authors:  B D Sharma; S Mittal; R R Kasliwal; N Trehan; V Kohli
Journal:  J Assoc Physicians India       Date:  2000-11

Review 3.  Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).

Authors:  F Palau
Journal:  Int J Mol Med       Date:  2001-06       Impact factor: 4.101

Review 4.  Friedreich's Ataxia: a review from a cardiology perspective.

Authors:  T Bourke; D Keane
Journal:  Ir J Med Sci       Date:  2011-08-07       Impact factor: 1.568

Review 5.  Clinical features and classification of inherited ataxias.

Authors:  A E Harding
Journal:  Adv Neurol       Date:  1993

6.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

7.  Hypertrophic cardiomyopathy in Friedreich's ataxia: symmetric or asymmetric?

Authors:  A Pasternac; R Król; R Petitclerc; C Harvey; E Andermann; A Barbeau
Journal:  Can J Neurol Sci       Date:  1980-11       Impact factor: 2.104

Review 8.  Friedreich's ataxia.

Authors:  Gulay Alper; Vinodh Narayanan
Journal:  Pediatr Neurol       Date:  2003-05       Impact factor: 3.372

9.  Discrete subaortic stenosis: incidence, morphology and surgical impact of associated subaortic anomalies.

Authors:  Maurizio Marasini; Lucio Zannini; Gian Paolo Ussia; Robin Pinto; Rodolfo Moretti; Franco Lerzo; Giacomo Pongiglione
Journal:  Ann Thorac Surg       Date:  2003-06       Impact factor: 4.330

10.  Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients.

Authors:  J S Child; J K Perloff; P M Bach; A D Wolfe; S Perlman; R A Kark
Journal:  J Am Coll Cardiol       Date:  1986-06       Impact factor: 24.094
  10 in total

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