These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 33044027)

  • 1. 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]  

  • 2. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
    Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
    da Costa SCG; Rezende Filho FM; de Freitas JL; de Assis Pereira Matos PCA; Della-Ripa B; França MC; Marques W; Santos M; Cronemberger IVB; Vale TC; Kok F; Alonso I; Pedroso JL; Barsottini OGP
    Mov Disord; 2022 Jun; 37(6):1309-1316. PubMed ID: 35426160
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New autosomal recessive cerebellar ataxias with oculomotor apraxia.
    Le Ber I; Brice A; Dürr A
    Curr Neurol Neurosci Rep; 2005 Sep; 5(5):411-7. PubMed ID: 16131425
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].
    Le Ber I; Rivaud-Péchoux S; Brice A; Dürr A
    Rev Neurol (Paris); 2006 Feb; 162(2):177-84. PubMed ID: 16518257
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
    Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
    BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
    Renaud M; Moreira MC; Ben Monga B; Rodriguez D; Debs R; Charles P; Chaouch M; Ferrat F; Laurencin C; Vercueil L; Mallaret M; M'Zahem A; Pacha LA; Tazir M; Tilikete C; Ollagnon E; Ochsner F; Kuntzer T; Jung HH; Beis JM; Netter JC; Djamshidian A; Bower M; Bottani A; Walsh R; Murphy S; Reiley T; Bieth É; Roelens F; Poll-The BT; Lourenço CM; Jardim LB; Straussberg R; Landrieu P; Roze E; Thobois S; Pouget J; Guissart C; Goizet C; Dürr A; Tranchant C; Koenig M; Anheim M
    JAMA Neurol; 2018 Apr; 75(4):495-502. PubMed ID: 29356829
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
    Mariani LL; Rivaud-Péchoux S; Charles P; Ewenczyk C; Meneret A; Monga BB; Fleury MC; Hainque E; Maisonobe T; Degos B; Echaniz-Laguna A; Renaud M; Wirth T; Grabli D; Brice A; Vidailhet M; Stoppa-Lyonnet D; Dubois-d'Enghien C; Le Ber I; Koenig M; Roze E; Tranchant C; Durr A; Gaymard B; Anheim M
    Sci Rep; 2017 Nov; 7(1):15284. PubMed ID: 29127364
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].
    Rudenskaia GE; Kurkina MV; Zakharova EIu
    Zh Nevrol Psikhiatr Im S S Korsakova; 2012; 112(10):58-63. PubMed ID: 23250602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
    Paucar M; Taylor AMR; Hadjivassiliou M; Fogel BL; Svenningsson P
    Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31656689
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
    Lu C; Zheng YC; Dong Y; Li HF
    BMC Neurol; 2016 Sep; 16(1):179. PubMed ID: 27644330
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterozygous deletion in exon 6 of
    Kinkar JS; Jameel PZ; Kumawat BL; Kalbhor P
    BMJ Case Rep; 2021 Jun; 14(6):. PubMed ID: 34193451
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
    Nicolaou P; Georghiou A; Votsi C; Middleton LT; Zamba-Papanicolaou E; Christodoulou K
    BMC Med Genet; 2008 Apr; 9():28. PubMed ID: 18405395
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reply to: "Autosomal-Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker".
    Renaud M; Tranchant C; Koenig M; Anheim M
    Mov Disord; 2021 Mar; 36(3):789-790. PubMed ID: 33749920
    [No Abstract]   [Full Text] [Related]  

  • 16. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
    Anheim M; Fleury M; Monga B; Laugel V; Chaigne D; Rodier G; Ginglinger E; Boulay C; Courtois S; Drouot N; Fritsch M; Delaunoy JP; Stoppa-Lyonnet D; Tranchant C; Koenig M
    Neurogenetics; 2010 Feb; 11(1):1-12. PubMed ID: 19440741
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical presentation of ataxia-oculomotor apraxia type 1.
    Shahwan A; Byrd PJ; Taylor AM; Nestor T; Ryan S; King MD
    Dev Med Child Neurol; 2006 Jun; 48(6):529-32. PubMed ID: 16700949
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Autosomal recessive cerebellar ataxias].
    Anheim M
    Rev Neurol (Paris); 2011 May; 167(5):372-84. PubMed ID: 21087783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
    Moreira MC; Klur S; Watanabe M; Németh AH; Le Ber I; Moniz JC; Tranchant C; Aubourg P; Tazir M; Schöls L; Pandolfo M; Schulz JB; Pouget J; Calvas P; Shizuka-Ikeda M; Shoji M; Tanaka M; Izatt L; Shaw CE; M'Zahem A; Dunne E; Bomont P; Benhassine T; Bouslam N; Stevanin G; Brice A; Guimarães J; Mendonça P; Barbot C; Coutinho P; Sequeiros J; Dürr A; Warter JM; Koenig M
    Nat Genet; 2004 Mar; 36(3):225-7. PubMed ID: 14770181
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.