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Year | Number of Results |
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1999 | 2 |
2011 | 2 |
2012 | 1 |
2014 | 2 |
2015 | 1 |
2024 | 0 |
PubMed (cited) for id: 607245
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Page 1
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30.
Eur J Hum Genet. 2015.
PMID: 24781758
Free PMC article.
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.
Tüysüz B, et al.
Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3.
Am J Med Genet A. 2014.
PMID: 24700674
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Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L.
Bauer P, et al.
Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.
Neurogenetics. 2012.
PMID: 22290197
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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.
Abou Jamra R, et al.
Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.
Am J Hum Genet. 2011.
PMID: 21620353
Free PMC article.
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A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E.
Blumkin L, et al.
J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25.
J Neurol Sci. 2011.
PMID: 21440262
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Characterization of a fourth adaptor-related protein complex.
Hirst J, Bright NA, Rous B, Robinson MS.
Hirst J, et al.
Mol Biol Cell. 1999 Aug;10(8):2787-802. doi: 10.1091/mbc.10.8.2787.
Mol Biol Cell. 1999.
PMID: 10436028
Free PMC article.
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AP-4, a novel protein complex related to clathrin adaptors.
Dell'Angelica EC, Mullins C, Bonifacino JS.
Dell'Angelica EC, et al.
J Biol Chem. 1999 Mar 12;274(11):7278-85. doi: 10.1074/jbc.274.11.7278.
J Biol Chem. 1999.
PMID: 10066790
Free article.
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