BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 34663476)

  • 21. Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.
    Renaud M; Tranchant C; Koenig M; Anheim M
    Mov Disord; 2020 Dec; 35(12):2139-2149. PubMed ID: 33044027
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.
    Wiethoff S; Hersheson J; Bettencourt C; Wood NW; Houlden H
    J Neurol; 2016 Aug; 263(8):1503-10. PubMed ID: 27178001
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With
    Qian N; Wei T; Yang W; Wang J; Zhang S; Jin S; Dong W; Hao W; Yang Y; Huang R
    Front Genet; 2022; 13():795188. PubMed ID: 35281832
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.
    Valentina Castillo J; Catherine Díaz S; Bustamante ML; Ferreira MG; Teive HAG; Miranda M
    Cerebellum; 2021 Dec; 20(6):938-941. PubMed ID: 33651373
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
    Jiao B; Zhou Z; Hu Z; Du J; Liao X; Luo Y; Wang J; Yan X; Jiang H; Tang B; Shen L
    Parkinsonism Relat Disord; 2020 Nov; 80():65-72. PubMed ID: 32961396
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia].
    Guan WJ; Wang JL; Tang BS
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):673-6. PubMed ID: 23225047
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
    Gros-Louis F; Dupré N; Dion P; Fox MA; Laurent S; Verreault S; Sanes JR; Bouchard JP; Rouleau GA
    Nat Genet; 2007 Jan; 39(1):80-5. PubMed ID: 17159980
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
    Saadi SM; Cali E; Khalid LB; Yousaf H; Zafar G; Khan HN; Sher M; Vona B; Abdullah U; Malik NA; Klar J; Efthymiou S; Dahl N; Houlden H; Toft M; Baig SM; Fatima A; Iqbal Z
    Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510308
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].
    Espinós-Armero C; González-Cabo P; Palau-Martínez F
    Rev Neurol; 2005 Oct 1-15; 41(7):409-22. PubMed ID: 16193447
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
    Wang Z; Song Y; Wang X; Li X; Xu F; Si L; Dong Y; Yao T; Zhu J; Lai H; Li W; Lin F; Huang H; Wang C
    Neurosci Lett; 2021 May; 752():135831. PubMed ID: 33746006
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
    Shakya S; Kumari R; Suroliya V; Tyagi N; Joshi A; Garg A; Singh I; Kalikavil Puthanveedu D; Cherian A; Mukerji M; Srivastava AK; Faruq M
    Clin Genet; 2019 Dec; 96(6):566-574. PubMed ID: 31429931
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
    De Michele G; Maione L; Cocozza S; Tranfa M; Pane C; Galatolo D; De Rosa A; De Michele G; Saccà F; Filla A
    Cerebellum; 2024 Apr; 23(2):688-701. PubMed ID: 36997834
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A recessive ataxia diagnosis algorithm for the next generation sequencing era.
    Renaud M; Tranchant C; Martin JVT; Mochel F; Synofzik M; van de Warrenburg B; Pandolfo M; Koenig M; Kolb SA; Anheim M;
    Ann Neurol; 2017 Dec; 82(6):892-899. PubMed ID: 29059497
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Clinical details and genetics of recessive ataxias].
    Zühlke C; Kreuz F; Bürk K
    Nervenarzt; 2011 Apr; 82(4):447-8, 450-8. PubMed ID: 20640395
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
    Marelli C; Guissart C; Hubsch C; Renaud M; Villemin JP; Larrieu L; Charles P; Ayrignac X; Sacconi S; Collignon P; Cuntz-Shadfar D; Perrin L; Benarrosh A; Degardin A; Lagha-Boukbiza O; Mutez E; Carlander B; Morales RJ; Gonzalez V; Carra-Dalliere C; Azakri S; Mignard C; Ollagnon E; Pageot N; Chretien D; Geny C; Azulay JP; Tranchant C; Claustres M; Labauge P; Anheim M; Goizet C; Calvas P; Koenig M
    Hum Mutat; 2016 Dec; 37(12):1340-1353. PubMed ID: 27528516
    [TBL] [Abstract][Full Text] [Related]  

  • 36. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
    Hadjinicolaou A; Ngo KJ; Conway DY; Provias JP; Baker SK; Brady LI; Bennett CL; La Spada AR; Fogel BL; Yoon G
    Acta Neuropathol Commun; 2021 Dec; 9(1):194. PubMed ID: 34922620
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
    Ponger P; Kurolap A; Lerer I; Dagan J; Chai Gadot C; Mory A; Wilnai Y; Oniashvili N; Giladi N; Gurevich T; Meiner V; Lossos A; Baris Feldman H
    J Mol Neurosci; 2022 Aug; 72(8):1715-1723. PubMed ID: 35676594
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
    Mallaret M; Renaud M; Redin C; Drouot N; Muller J; Severac F; Mandel JL; Hamza W; Benhassine T; Ali-Pacha L; Tazir M; Durr A; Monin ML; Mignot C; Charles P; Van Maldergem L; Chamard L; Thauvin-Robinet C; Laugel V; Burglen L; Calvas P; Fleury MC; Tranchant C; Anheim M; Koenig M
    J Neurol; 2016 Jul; 263(7):1314-22. PubMed ID: 27142713
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia.
    Malgireddy K; Thompson R; Torres-Russotto D
    Parkinsonism Relat Disord; 2016 Dec; 33():151-152. PubMed ID: 27793482
    [No Abstract]   [Full Text] [Related]  

  • 40. Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
    Radziwonik W; Elert-Dobkowska E; Klimkowicz-Mrowiec A; Ziora-Jakutowicz K; Stepniak I; Zaremba J; Sulek A
    J Appl Genet; 2022 Sep; 63(3):513-525. PubMed ID: 35588347
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.