Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice

被引:5
作者
Millar Vernetti, Patricio [1 ]
Ruiz Yanzi, Maria Agustina [2 ]
Rossi, Malco [1 ,3 ]
Merello, Marcelo [1 ,3 ]
机构
[1] Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, Argentina
[2] Fleni, Neurol Dept, Buenos Aires, DF, Argentina
[3] Natl Council Sci & Tech Res CONICET, Buenos Aires, DF, Argentina
来源
TREMOR AND OTHER HYPERKINETIC MOVEMENTS | 2022年 / 12卷
关键词
WES; whole-exome sequencing; genetics; diagnosis; controversies; PHENOTYPE; UTILITY;
D O I
10.5334/tohm.678
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
© 2022 The Author(s). © 2022, Center for Digital Research and Scholarship. All rights reserved.
引用
收藏
页数:9
相关论文
共 25 条
  • [1] Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views
    Bertier, Gabrielle
    Hetu, Martin
    Joly, Yann
    [J]. BMC MEDICAL GENOMICS, 2016, 9
  • [2] Bonifati V, 2017, MOV DISORD CLIN PRAC, V4, P36, DOI 10.1002/mdc3.12438
  • [3] Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review
    de Oliveira, Lais Machado
    Barbosa, Egberto Reis
    Aquino, Camila Catherine
    Munhoz, Renato Puppi
    Fasano, Alfonso
    Cury, Rubens Gisbert
    [J]. MOVEMENT DISORDERS CLINICAL PRACTICE, 2019, 6 (05): : 359 - 368
  • [4] DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation
    Groen, Justus L.
    Ritz, Katja
    Contarino, Maria Fiorella
    van de Warrenburg, Bart P.
    Aramideh, Majid
    Foncke, Elisabeth M.
    van Hilten, Jacobus J.
    Schuurman, P. Richard
    Speelman, Johannes D.
    Koelman, Johannes H.
    de Bie, Rob M. A.
    Baas, Frank
    Tijssen, Marina A.
    [J]. MOVEMENT DISORDERS, 2010, 25 (14) : 2420 - 2427
  • [5] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    Kitada, T
    Asakawa, S
    Hattori, N
    Matsumine, H
    Yamamura, Y
    Minoshima, S
    Yokochi, M
    Mizuno, Y
    Shimizu, N
    [J]. NATURE, 1998, 392 (6676) : 605 - 608
  • [6] Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels
    Klein, Christopher J.
    Foroud, Tatiana M.
    [J]. MAYO CLINIC PROCEEDINGS, 2017, 92 (02) : 292 - 305
  • [7] Diagnostic yield of whole-exome sequencing in neurological diaseases
    Krenn, M.
    Wagner, M.
    Strom, T. M.
    Auff, E.
    Zimprich, F.
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 160 - 160
  • [8] Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
    Kuperberg, Maya
    Lev, Dorit
    Blumkin, Lubov
    Zerem, Ayelet
    Ginsberg, Mira
    Linder, Ilan
    Carmi, Nirit
    Kivity, Sarah
    Lerman-Sagie, Tally
    Leshinsky-Silver, Esther
    [J]. JOURNAL OF CHILD NEUROLOGY, 2016, 31 (14) : 1534 - 1539
  • [9] Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study
    Manes, Marta
    Alberici, Antonella
    Di Gregorio, Eleonora
    Boccone, Loredana
    Premi, Enrico
    Mitro, Nico
    Pasolini, Maria Pia
    Pani, Claudia
    Paghera, Barbara
    Orsi, Laura
    Costanzi, Chiara
    Ferrero, Marta
    Tempia, Filippo
    Caruso, Donatella
    Padovani, Alessando
    Brusco, Alfredo
    Borroni, Barbara
    [J]. PARKINSONISM & RELATED DISORDERS, 2019, 63 : 191 - 194
  • [10] Rapid-onset dystonia-parkinsonism preceded by a single episode of subacute persisting hemiparesis: Expanding the ATP1A3-related disorders phenotype
    Marrodan, Mariano
    Rossi, Malco
    Merello, Marcelo
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 392 : 44 - 45