Literature DB >> 26396075

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.

M Di Giovanni1, A Poggiani1, S Bianchi1, F Rosini1,2, A Rufa1,2, A Federico3.   

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Year:  2015        PMID: 26396075     DOI: 10.1007/s10072-015-2378-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


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  5 in total

1.  Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias.

Authors:  Pamela Federighi; Gabriele Cevenini; Maria T Dotti; Francesca Rosini; Elena Pretegiani; Antonio Federico; Alessandra Rufa
Journal:  Brain       Date:  2011-03       Impact factor: 13.501

Review 2.  The ocular motor features of adult-onset alexander disease: a case and review of the literature.

Authors:  Gerald Pfeffer; Mathias Abegg; A Talia Vertinsky; Isabella Ceccherini; Francesco Caroli; Jason J S Barton
Journal:  J Neuroophthalmol       Date:  2011-06       Impact factor: 3.042

Review 3.  [Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

Authors:  Yoshimasa Sueda; Tetsuya Takahashi; Kazuhide Ochi; Toshiho Ohtsuki; Michito Namekawa; Tatsuo Kohriyama; Yoshihisa Takiyama; Masayasu Matsumoto
Journal:  Rinsho Shinkeigaku       Date:  2009-06

Review 4.  Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Authors:  Davide Pareyson; Roberto Fancellu; Caterina Mariotti; Silvia Romano; Andrea Salmaggi; Francesco Carella; Floriano Girotti; Grazietta Gattellaro; Maria Rita Carriero; Laura Farina; Isabella Ceccherini; Mario Savoiardo
Journal:  Brain       Date:  2008-08-06       Impact factor: 13.501

5.  Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Authors:  M Brenner; A B Johnson; O Boespflug-Tanguy; D Rodriguez; J E Goldman; A Messing
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

  5 in total
  1 in total

1.  Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).

Authors:  Ilaria Di Donato; Antonio Federico
Journal:  Neurol Sci       Date:  2017-01       Impact factor: 3.307

  1 in total

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