Literature DB >> 32889549

Expanding the clinical and genetic spectrum of PCYT2-related disorders.

Valentina Vélez-Santamaría1,2, Edgard Verdura1,3, Colleen Macmurdo4, Laura Planas-Serra1,3, Agatha Schlüter1,3, Josefina Casas5,6, Juan José Martínez1,3, Carlos Casasnovas1,2,3, Yue Si7, Stephanie S Thompson4, Reza Maroofian8, Aurora Pujol1,3,9.   

Abstract

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Year:  2020        PMID： 32889549     DOI： 10.1093/brain/awaa229

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  3 in total

Review 1.  Bilayer Forming Phospholipids as Targets for Cancer Therapy.

Authors:  Celine Stoica; Adilson Kleber Ferreira; Kayleigh Hannan; Marica Bakovic
Journal:  Int J Mol Sci       Date:  2022-05-09       Impact factor: 6.208

2.  Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.

Authors:  Lea Leonardis; Marusa Skrjanec Pusenjak; Ales Maver; Helena Jaklic; Ana Ozura Brecko; Blaz Koritnik; Borut Peterlin; Karin Writzl
Journal:  Neurol Genet       Date:  2022-03-01

3.  Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.

Authors:  Frédéric M Vaz; John H McDermott; Marc Engelen; Siddharth Banka
Journal:  Brain       Date:  2020-09-01       Impact factor: 15.255
  3 in total

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