Literature DB >> 17043301

Pigmentary macular dystrophy in spinocerebellar ataxia type 1.

Y Saito, K Matsumura, S Shimizu, Y Ichikawa, K Ochiai, J Goto, S Tsuji, T Shimizu.   

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Year:  2006        PMID: 17043301      PMCID: PMC2077386          DOI: 10.1136/jnnp.2006.092676

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


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  5 in total

1.  Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

Authors:  G David; N Abbas; G Stevanin; A Dürr; G Yvert; G Cancel; C Weber; G Imbert; F Saudou; E Antoniou; H Drabkin; R Gemmill; P Giunti; A Benomar; N Wood; M Ruberg; Y Agid; J L Mandel; A Brice
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

2.  Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation.

Authors:  T Abe; K Abe; T Tsuda; Y Itoyama; M Tamai
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2001-10       Impact factor: 3.117

3.  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 4.  Spinocerebellar ataxia type 1.

Authors:  H Y Zoghbi
Journal:  Clin Neurosci       Date:  1995

5.  Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

Authors:  S Banfi; A Servadio; M Y Chung; T J Kwiatkowski; A E McCall; L A Duvick; Y Shen; E J Roth; H T Orr; H Y Zoghbi
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

  5 in total
  5 in total

1.  Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).

Authors:  Ayane Hirose; Satoshi Katagiri; Takaaki Hayashi; Tomokazu Matsuura; Norihiro Nagai; Kaoru Fujinami; Takeshi Iwata; Kazushige Tsunoda
Journal:  Doc Ophthalmol       Date:  2020-07-09       Impact factor: 2.379

2.  Rod-cone dystrophy in spinocerebellar ataxia type 1.

Authors:  Matthew J Thurtell; Valérie Biousse; Nancy J Newman
Journal:  Arch Ophthalmol       Date:  2011-07

3.  A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA).

Authors:  Claire S Barnes; Jiong Yan; George R Wilmot
Journal:  Doc Ophthalmol       Date:  2008-11-21       Impact factor: 2.379

4.  Ataxin-1 poly(Q)-induced proteotoxic stress and apoptosis are attenuated in neural cells by docosahexaenoic acid-derived neuroprotectin D1.

Authors:  Jorgelina M Calandria; Pranab K Mukherjee; Juan Carlos de Rivero Vaccari; Min Zhu; Nicos A Petasis; Nicolas G Bazan
Journal:  J Biol Chem       Date:  2012-04-16       Impact factor: 5.157

5.  Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1.

Authors:  Frederike Cosima Oertel; Oliver Zeitz; Maria Rönnefarth; Charlotte Bereuter; Seyedamirhosein Motamedi; Hanna G Zimmermann; Joseph Kuchling; Anne Sophie Grosch; Sarah Doss; Andrew Browne; Friedemann Paul; Tanja Schmitz-Hübsch; Alexander U Brandt
Journal:  Mov Disord Clin Pract       Date:  2020-05-06
  5 in total

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