Literature DB >> 28547031

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

Liana Africa1, Maria Margollicci2, Simona Salvatore1, Bita Shalbafan3, Luana Peruzzi4, Mansoureh Togha5, Vincenzo Sorrentino2, Antonio Federico6.   

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Year:  2017        PMID： 28547031     DOI： 10.1007/s10072-017-2986-6

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


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  7 in total

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

Authors:  N De Stefano; M T Dotti; M Mortilla; E Pappagallo; P Luzi; M A Rafi; P Formichi; D Inzitari; D A Wenger; A Federico
Journal:  J Neurol       Date:  2000-03       Impact factor: 4.849

2.  Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.

Authors:  H Furuya; Y Kukita; S Nagano; Y Sakai; Y Yamashita; H Fukuyama; Y Inatomi; Y Saito; R Koike; S Tsuji; Y Fukumaki; K Hayashi; T Kobayashi
Journal:  Hum Genet       Date:  1997-09       Impact factor: 4.132

3.  Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Authors:  A Malandrini; C D'Eramo; S Palmeri; C Gaudiano; S Gambelli; F Sicurelli; G Berti; P Formichi; A Kuqo; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2012-01-25       Impact factor: 3.307

4.  Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.

Authors:  José Tomás; João Durães; Lúcia Lacerda; Maria Carmo Macário
Journal:  BMJ Case Rep       Date:  2015-09-22

Review 5.  Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.

Authors:  J I Satoh; H Tokumoto; K Kurohara; M Yukitake; M Matsui; Y Kuroda; T Yamamoto; H Furuya; N Shinnoh; T Kobayashi; Y Kukita; K Hayashi
Journal:  Neurology       Date:  1997-11       Impact factor: 9.910

6.  Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Authors:  R L Puckett; J J Orsini; G M Pastores; R Y Wang; R Chang; C A Saavedra-Matiz; P A Torres; B Zeng; M Caggana; F Lorey; J E Abdenur
Journal:  Mol Genet Metab       Date:  2011-10-25       Impact factor: 4.797

7.  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
  7 in total
  2 in total

1.  News on the journal Neurological Sciences in 2017.

Authors:  Ilaria Di Donato; Antonio Federico
Journal:  Neurol Sci       Date:  2018-01       Impact factor: 3.307

2.  A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Authors:  Feyza Nur Tuncer; Sibel Aylin Ugur Iseri; Zuhal Yapici; Mahmut Demir; Meryem Karaca; Mustafa Calik
Journal:  Neurol Sci       Date:  2018-09-12       Impact factor: 3.307
  2 in total

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