Literature DB >> 2894517

Friedreich's ataxia in Kathikas-Arodhes, Cyprus.

G Dean, S Chamberlain, L Middleton.   

Abstract

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Year:  1988        PMID： 2894517     DOI： 10.1016/s0140-6736(88)91378-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  8 in total

1.  High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Authors:  E Zamba-Papanicolaou; P Koutsou; C Daiou; E Gaglia; A Georghiou; K Christodoulou
Journal:  Acta Myol       Date:  2009-07

Review 2.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

Review 3.  Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases.

Authors:  Annita Kolnagou; Christina N Kontoghiorghe; George J Kontoghiorghes
Journal:  World J Methodol       Date:  2014-12-26

4.  The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Authors:  N Skordis; V Neocleous; A Kyriakou; E Efstathiou; A Sertedaki; P Philibert; L A Phylactou; S Lumbroso; C Sultan
Journal:  J Endocrinol Invest       Date:  2010-05-28       Impact factor: 4.256

5.  Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.

Authors:  R Fujita; A Hanauer; G Sirugo; R Heilig; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

6.  A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Authors:  Paschalis Nicolaou; Anthi Georghiou; Christina Votsi; Lefkos T Middleton; Eleni Zamba-Papanicolaou; Kyproula Christodoulou
Journal:  BMC Med Genet       Date:  2008-04-14       Impact factor: 2.103

7.  Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Authors:  Vassos Neocleous; Pavlos Fanis; Meropi Toumba; Barbara Gorka; Ioanna Kousiappa; George A Tanteles; Michalis Iasonides; Nicolas C Nicolaides; Yiolanda P Christou; Kyriaki Michailidou; Stella Nicolaou; Savvas S Papacostas; Athanasios Christoforidis; Andreas Kyriakou; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2021-09-24       Impact factor: 5.555

8.  Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Authors:  P Fanis; N Skordis; S Frangos; G Christopoulos; E Spanou-Aristidou; E Andreou; P Manoli; M Mavrommatis; S Nicolaou; M Kleanthous; M A Cariolou; V Christophidou-Anastasiadou; G A Tanteles; L A Phylactou; V Neocleous
Journal:  J Endocrinol Invest       Date:  2018-02-02       Impact factor: 4.256
  8 in total

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