Literature DB >> 18080847

Spinocerebellar ataxia type 7 presenting as Stargardt's disease.

Georgios Tsivgoulis, Sofia Vassilopoulou, Konstntinos Rallis, Nikolaos Markomichelakis, Konstantinos Spengos.   

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Year:  2007        PMID: 18080847     DOI: 10.1007/s00415-007-0740-3

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


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  11 in total

1.  Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.

Authors:  J Martin; N Van Regemorter; J Del-Favero; A Löfgren; C Van Broeckhoven
Journal:  J Neurol Sci       Date:  1999-09-15       Impact factor: 3.181

2.  Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.

Authors:  M F Kniazeva; M F Chiang; G R Cutting; D J Zack; M Han; K Zhang
Journal:  Ophthalmic Genet       Date:  1999-06       Impact factor: 1.803

3.  De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Authors:  G Stevanin; P Giunti; G D Belal; A Dürr; M Ruberg; N Wood; A Brice
Journal:  Hum Mol Genet       Date:  1998-10       Impact factor: 6.150

4.  Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.

Authors:  J Johansson; L Forsgren; O Sandgren; A Brice; G Holmgren; M Holmberg
Journal:  Hum Mol Genet       Date:  1998-02       Impact factor: 6.150

5.  Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.

Authors:  Tomas S Aleman; Artur V Cideciyan; Nicholas J Volpe; Giovanni Stevanin; Alexis Brice; Samuel G Jacobson
Journal:  Exp Eye Res       Date:  2002-06       Impact factor: 3.467

6.  Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families.

Authors:  T P Enevoldson; M D Sanders; A E Harding
Journal:  Brain       Date:  1994-06       Impact factor: 13.501

Review 7.  Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Authors:  A Michalik; J-J Martin; C Van Broeckhoven
Journal:  Eur J Hum Genet       Date:  2004-01       Impact factor: 4.246

8.  Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Authors:  Eva Paloma; Rosa Coco; Amalia Martínez-Mir; Lluïsa Vilageliu; Susana Balcells; Roser Gonzàlez-Duarte
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

Review 9.  ATP-binding cassette (ABC) transporters in human metabolism and diseases.

Authors:  J Stefková; R Poledne; J A Hubácek
Journal:  Physiol Res       Date:  2004       Impact factor: 1.881

10.  Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.

Authors:  C S Benton; R de Silva; S L Rutledge; S Bohlega; T Ashizawa; H Y Zoghbi
Journal:  Neurology       Date:  1998-10       Impact factor: 9.910

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