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 *

128 related articles for article (PubMed ID: 38555792)

  • 1. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
    Imarisio A; Pilotto A; Lupini A; Biasiotto G; Zanella I; Currò R; Vegezzi E; Cortese A; Palmieri I; Valente EM; Padovani A
    Parkinsonism Relat Disord; 2024 Jun; 123():106943. PubMed ID: 38555792
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
    Castellotti B; Mariotti C; Rimoldi M; Fancellu R; Plumari M; Caimi S; Uziel G; Nardocci N; Moroni I; Zorzi G; Pareyson D; Di Bella D; Di Donato S; Taroni F; Gellera C
    Neurogenetics; 2011 Aug; 12(3):193-201. PubMed ID: 21465257
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
    Ferrarini M; Squintani G; Cavallaro T; Ferrari S; Rizzuto N; Fabrizi GM
    J Neurol Sci; 2007 Sep; 260(1-2):219-24. PubMed ID: 17572444
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Aprataxin (APTX) gene mutations resembling multiple system atrophy.
    Baba Y; Uitti RJ; Boylan KB; Uehara Y; Yamada T; Farrer MJ; Couchon E; Batish SD; Wszolek ZK
    Parkinsonism Relat Disord; 2007 Apr; 13(3):139-42. PubMed ID: 17049295
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
    Nouri N; Nouri N; Aryani O; Kamalidehghan B; Sedghi M; Houshmand M
    Iran Biomed J; 2012; 16(4):223-5. PubMed ID: 23183622
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
    Aguillon D; Vasquez D; Madrigal L; Moreno S; Hernández D; Isaza-Ruget M; Lopez JJ; Landires I; Nuñez-Samudio V; Restrepo CM; Vidal OM; Vélez JI; Arcos-Holzinger M; Lopera F; Arcos-Burgos M
    Mol Neurobiol; 2022 Jun; 59(6):3845-3858. PubMed ID: 35420381
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.
    Pedroso JL; Vale TC; da Costa SCG; Santos M; Alonso I; Barsottini OGP
    Tremor Other Hyperkinet Mov (N Y); 2020 Oct; 10():39. PubMed ID: 33101765
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
    Le Ber I; Moreira MC; Rivaud-Péchoux S; Chamayou C; Ochsner F; Kuntzer T; Tardieu M; Saïd G; Habert MO; Demarquay G; Tannier C; Beis JM; Brice A; Koenig M; Dürr A
    Brain; 2003 Dec; 126(Pt 12):2761-72. PubMed ID: 14506070
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
    Le Ber I; Dubourg O; Benoist JF; Jardel C; Mochel F; Koenig M; Brice A; Lombès A; Dürr A
    Neurology; 2007 Jan; 68(4):295-7. PubMed ID: 17242337
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
    Scholz C; Golas MM; Weber RG; Hartmann C; Lehmann U; Sahm F; Schmidt G; Auber B; Sturm M; Schlegelberger B; Illig T; Steinemann D; Hofmann W
    Clin Genet; 2018 Jul; 94(1):185-186. PubMed ID: 29498415
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial cognitive impairment with ataxia with oculomotor apraxia.
    Mahajnah M; Basel-Vanagaite L; Inbar D; Kornreich L; Weitz R; Straussberg R
    J Child Neurol; 2005 Jun; 20(6):523-5. PubMed ID: 15996403
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.
    Laurencin C; Anheim M; Larrieu L; Tilikete C; Koenig M; Thobois S
    J Neurol; 2015 May; 262(5):1366-8. PubMed ID: 25845762
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
    Catford SR; O'Bryan MK; McLachlan RI; Delatycki MB; Rombauts L
    Reprod Biomed Online; 2019 Jun; 38(6):961-965. PubMed ID: 30642639
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
    Tada M; Yokoseki A; Sato T; Makifuchi T; Onodera O
    Adv Exp Med Biol; 2010; 685():21-33. PubMed ID: 20687492
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
    Seidle HF; Bieganowski P; Brenner C
    J Biol Chem; 2005 Jun; 280(22):20927-31. PubMed ID: 15790557
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
    Criscuolo C; Mancini P; Saccà F; De Michele G; Monticelli A; Santoro L; Scarano V; Banfi S; Filla A
    Neurology; 2004 Dec; 63(11):2173-5. PubMed ID: 15596775
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.