Literature DB >> 10787123

Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease.

N De Stefano, M T Dotti, M Mortilla, E Pappagallo, P Luzi, M A Rafi, P Formichi, D Inzitari, D A Wenger, A Federico.   

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Year:  2000        PMID： 10787123     DOI： 10.1007/s004150050571

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


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  4 in total

1.  Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

Authors:  Liana Africa; Maria Margollicci; Simona Salvatore; Bita Shalbafan; Luana Peruzzi; Mansoureh Togha; Vincenzo Sorrentino; Antonio Federico
Journal:  Neurol Sci       Date:  2017-05-25       Impact factor: 3.307

2.  MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Authors:  A Melberg; L Hallberg; H Kalimo; R Raininko
Journal:  AJNR Am J Neuroradiol       Date:  2006-04       Impact factor: 3.825

3.  Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Authors:  Rabab Debs; Roseline Froissart; Patrick Aubourg; Caroline Papeix; Claire Douillard; Bertrand Degos; Bertrand Fontaine; Bertrand Audoin; Arnaud Lacour; Gérard Said; Marie T Vanier; Frédéric Sedel
Journal:  J Inherit Metab Dis       Date:  2012-11-30       Impact factor: 4.982

Review 4.  A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Authors:  Guode Wu; Zhenhua Li; Jing Li; Xin Li; Manxia Wang; Jing Zhang; Guangyao Liu; Pengfei Zhang
Journal:  Front Neurosci       Date:  2022-09-07       Impact factor: 5.152
  4 in total

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