Literature DB >> 28716265

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

Matthias Rath1, G Christoph Korenke2, Juliane Najm1, Georg F Hoffmann3, Angela Hagendorff4, Tim M Strom5, Ute Felbor6.   

Abstract

Entities:  

Keywords:  Clinical genetics; Developmental disorders; Dystonia; Ocular motility; SLC18A2; VMAT2

Mesh：

Substances：

Year:  2017        PMID： 28716265     DOI： 10.1016/j.jns.2017.06.034

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  9 in total

Review 1.  Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Authors:  Ignacio Juan Keller Sarmiento; Niccolò Emanuele Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-09       Impact factor: 5.081

2.  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Authors:  Tadahiro Mitani; Sedat Isikay; Alper Gezdirici; Elif Yilmaz Gulec; Jaya Punetha; Jawid M Fatih; Isabella Herman; Gulsen Akay; Haowei Du; Daniel G Calame; Akif Ayaz; Tulay Tos; Gozde Yesil; Hatip Aydin; Bilgen Geckinli; Nursel Elcioglu; Sukru Candan; Ozlem Sezer; Haktan Bagis Erdem; Davut Gul; Emine Demiral; Muhsin Elmas; Osman Yesilbas; Betul Kilic; Serdal Gungor; Ahmet C Ceylan; Sevcan Bozdogan; Ozge Ozalp; Salih Cicek; Huseyin Aslan; Sinem Yalcintepe; Vehap Topcu; Yavuz Bayram; Christopher M Grochowski; Angad Jolly; Moez Dawood; Ruizhi Duan; Shalini N Jhangiani; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Dana Marafi; Zeynep Coban Akdemir; Ender Karaca; Claudia M B Carvalho; Richard A Gibbs; Jennifer E Posey; James R Lupski; Davut Pehlivan
Journal:  Am J Hum Genet       Date:  2021-09-28       Impact factor: 11.025

3.  Genetic or Toxicant-Induced Disruption of Vesicular Monoamine Storage and Global Metabolic Profiling in Caenorhabditis elegans.

Authors:  Joshua M Bradner; Vrinda Kalia; Fion K Lau; Monica Sharma; Meghan L Bucher; Michelle Johnson; Merry Chen; Douglas I Walker; Dean P Jones; Gary W Miller
Journal:  Toxicol Sci       Date:  2021-04-12       Impact factor: 4.849

Review 4.  Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Authors:  Shreyas Bhat; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Pharmacol Ther       Date:  2020-12-10       Impact factor: 12.310

5.  Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans.

Authors:  Alexander T Young; Kien N Ly; Callum Wilson; Klaus Lehnert; Russell G Snell; Suzanne J Reid; Jessie C Jacobsen
Journal:  Dis Model Mech       Date:  2018-11-09       Impact factor: 5.758

6.  A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Authors:  Manisha Padmakumar; Jaak Jaeken; Vincent Ramaekers; Lieven Lagae; Daniel Greene; Chantal Thys; Chris Van Geet; Nihr BioResource; Kathleen Stirrups; Kate Downes; Ernest Turro; Kathleen Freson
Journal:  JIMD Rep       Date:  2019-03-25

7.  Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Authors:  Matthias Rath; Stefanie Spiegler; Tim M Strom; Johannes Trenkler; Peter Michael Kroisel; Ute Felbor
Journal:  Am J Med Genet A       Date:  2018-12-17       Impact factor: 2.802

8.  Oculogyric Crisis in a Girl with Infantile Parkinsonism-Dystonia-2.

Authors:  Bhanudeep Singanamalla; Gurpreet Kochar; Arushi Gahlot Saini
Journal:  Ann Indian Acad Neurol       Date:  2021-08-05       Impact factor: 1.383

Review 9.  Emerging evidence for astrocyte dysfunction in schizophrenia.

Authors:  Eva Cristina de Oliveira Figueiredo; Corrado Calì; Francesco Petrelli; Paola Bezzi
Journal:  Glia       Date:  2022-05-30       Impact factor: 8.073
  9 in total

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