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 *

283 related articles for article (PubMed ID: 19559397)

  • 1. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
    Verkerk AJ; Schot R; Dumee B; Schellekens K; Swagemakers S; Bertoli-Avella AM; Lequin MH; Dudink J; Govaert P; van Zwol AL; Hirst J; Wessels MW; Catsman-Berrevoets C; Verheijen FW; de Graaff E; de Coo IF; Kros JM; Willemsen R; Willems PJ; van der Spek PJ; Mancini GM
    Am J Hum Genet; 2009 Jul; 85(1):40-52. PubMed ID: 19559397
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
    Tüysüz B; Bilguvar K; Koçer N; Yalçınkaya C; Çağlayan O; Gül E; Sahin S; Çomu S; Günel M
    Am J Med Genet A; 2014 Jul; 164A(7):1677-85. PubMed ID: 24700674
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
    Moreno-De-Luca A; Helmers SL; Mao H; Burns TG; Melton AM; Schmidt KR; Fernhoff PM; Ledbetter DH; Martin CL
    J Med Genet; 2011 Feb; 48(2):141-4. PubMed ID: 20972249
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A comparison of spastic diplegic and tetraplegic cerebral palsy.
    Kulak W; Sobaniec W; Smigielska-Kuzia J; Kubas B; Walecki J
    Pediatr Neurol; 2005 May; 32(5):311-7. PubMed ID: 15866431
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
    Jameel M; Klar J; Tariq M; Moawia A; Altaf Malik N; Seema Waseem S; Abdullah U; Naeem Khan T; Raininko R; Baig SM; Dahl N
    BMC Med Genet; 2014 Dec; 15():133. PubMed ID: 25496299
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.
    Wang H; Xu Y; Chen M; Shang Q; Sun Y; Zhu D; Wang L; Huang Z; Ma C; Li T; He L; Xing Q; Zhu C
    Mol Biol Rep; 2013 Nov; 40(11):6459-67. PubMed ID: 24065543
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
    Abou Jamra R; Philippe O; Raas-Rothschild A; Eck SH; Graf E; Buchert R; Borck G; Ekici A; Brockschmidt FF; Nöthen MM; Munnich A; Strom TM; Reis A; Colleaux L
    Am J Hum Genet; 2011 Jun; 88(6):788-795. PubMed ID: 21620353
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
    Accogli A; Hamdan FF; Poulin C; Nassif C; Rouleau GA; Michaud JL; Srour M
    Am J Med Genet A; 2018 Apr; 176(4):985-991. PubMed ID: 29430868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Quantitative diffusion tensor imaging in cerebral palsy due to periventricular white matter injury.
    Thomas B; Eyssen M; Peeters R; Molenaers G; Van Hecke P; De Cock P; Sunaert S
    Brain; 2005 Nov; 128(Pt 11):2562-77. PubMed ID: 16049045
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.
    McHale DP; Mitchell S; Bundey S; Moynihan L; Campbell DA; Woods CG; Lench NJ; Mueller RF; Markham AF
    Am J Hum Genet; 1999 Feb; 64(2):526-32. PubMed ID: 9973289
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in γ adducin are associated with inherited cerebral palsy.
    Kruer MC; Jepperson T; Dutta S; Steiner RD; Cottenie E; Sanford L; Merkens M; Russman BS; Blasco PA; Fan G; Pollock J; Green S; Woltjer RL; Mooney C; Kretzschmar D; Paisán-Ruiz C; Houlden H
    Ann Neurol; 2013 Dec; 74(6):805-14. PubMed ID: 23836506
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
    Abdollahpour H; Alawi M; Kortüm F; Beckstette M; Seemanova E; Komárek V; Rosenberger G; Kutsche K
    Eur J Hum Genet; 2015 Feb; 23(2):256-9. PubMed ID: 24781758
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
    Lynex CN; Carr IM; Leek JP; Achuthan R; Mitchell S; Maher ER; Woods CG; Bonthon DT; Markham AF
    BMC Neurol; 2004 Nov; 4(1):20. PubMed ID: 15571623
    [TBL] [Abstract][Full Text] [Related]  

  • 14. AP4M1 is abnormally expressed in oxygen-glucose deprived hippocampal neurons.
    Zhang J; Cheng XY; Sheng GY
    Neurosci Lett; 2014 Mar; 563():85-9. PubMed ID: 24486887
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Causes of cerebral palsy. 4. The CP-syndrome with genetic background].
    Gustavson KH; Hagberg B; Sanner G
    Lakartidningen; 1969 Apr; 66(17):1773-9. PubMed ID: 5770503
    [No Abstract]   [Full Text] [Related]  

  • 16. Severe congenital microcephaly with AP4M1 mutation, a case report.
    Duerinckx S; Verhelst H; Perazzolo C; David P; Desmyter L; Pirson I; Abramowicz M
    BMC Med Genet; 2017 May; 18(1):48. PubMed ID: 28464862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Technetium-99m-ECD brain SPECT in cerebral palsy: comparison with MRI.
    Lee JD; Kim DI; Ryu YH; Whang GJ; Park CI; Kim DG
    J Nucl Med; 1998 Apr; 39(4):619-23. PubMed ID: 9544666
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Relationship between characteristics on magnetic resonance imaging and motor outcomes in children with cerebral palsy and white matter injury.
    Reid SM; Ditchfield MR; Bracken J; Reddihough DS
    Res Dev Disabil; 2015; 45-46():178-87. PubMed ID: 26263404
    [TBL] [Abstract][Full Text] [Related]  

  • 19. White matter alterations and their associations with motor function in young adults born preterm with very low birth weight.
    Hollund IMH; Olsen A; Skranes J; Brubakk AM; Håberg AK; Eikenes L; Evensen KAI
    Neuroimage Clin; 2018; 17():241-250. PubMed ID: 29159041
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
    D'Amore A; Tessa A; Naef V; Bassi MT; Citterio A; Romaniello R; Fichi G; Galatolo D; Mero S; Battini R; Bertocci G; Baldacci J; Sicca F; Gemignani F; Ricca I; Rubegni A; Hirst J; Marchese M; Sahin M; Ebrahimi-Fakhari D; Santorelli FM
    Ann Clin Transl Neurol; 2020 Apr; 7(4):584-589. PubMed ID: 32216065
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.