Literature DB >> 10090913

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

A Díaz, M Montfort, B Cormand, B Zeng, G M Pastores, A Chabás, L Vilageliu, D Grinberg.   

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Year:  1999        PMID： 10090913      PMCID： PMC1377852          DOI： 10.1086/302341

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  Detecting population growth, selection and inherited fertility from haplotypic data in humans.

Authors:  Frédéric Austerlitz; Luba Kalaydjieva; Evelyne Heyer
Journal:  Genetics       Date:  2003-11       Impact factor: 4.562

2.  Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Authors:  G A Diaz; B D Gelb; N Risch; T G Nygaard; A Frisch; I J Cohen; C S Miranda; O Amaral; I Maire; L Poenaru; C Caillaud; M Weizberg; P Mistry; R J Desnick
Journal:  Am J Hum Genet       Date:  2000-04-21       Impact factor: 11.025

3.  Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Authors:  David A Zeevi; Gheona Altarescu; Ariella Weinberg-Shukron; Fouad Zahdeh; Tama Dinur; Gaya Chicco; Yair Herskovitz; Paul Renbaum; Deborah Elstein; Ephrat Levy-Lahad; Arndt Rolfs; Ari Zimran
Journal:  J Clin Invest       Date:  2015-08-31       Impact factor: 14.808

4.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

5.  Genetics of GNE myopathy in the non-Jewish Persian population.

Authors:  Alireza Haghighi; Shahriar Nafissi; Abrar Qurashi; Zheng Tan; Hosein Shamshiri; Yalda Nilipour; Amirreza Haghighi; Robert J Desnick; Ruth Kornreich
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

Review 6.  Advances in the genetics of Parkinson disease.

Authors:  Joanne Trinh; Matt Farrer
Journal:  Nat Rev Neurol       Date:  2013-07-16       Impact factor: 42.937

7.  Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.

Authors:  R Colombo
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

8.  Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

Authors:  Nevenka Ridova; Sanja Trajkova; Biljana Chonevska; Zlate Stojanoski; Martin Ivanovski; Marija Popova-Labachevska; Simona Stojanovska-Jakimovska; Venko Filipche; Aspazija Sofijanova; Irina Panovska-Stavridis
Journal:  Mol Genet Metab Rep       Date:  2022-07-08

Review 9.  Gaucher disease: Basic and translational science needs for more complete therapy and management.

Authors:  Gregory A Grabowski; Armand H M Antommaria; Edwin H Kolodny; Pramod K Mistry
Journal:  Mol Genet Metab       Date:  2020-12-29       Impact factor: 4.797
  9 in total

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