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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]
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]
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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]
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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]