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Year | Number of Results |
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2001 | 1 |
2013 | 1 |
2018 | 1 |
2019 | 1 |
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2024 | 0 |
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Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.
Am J Hum Genet. 2013.
PMID: 24035193
Free PMC article.
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA.
Franzka P, et al.
J Clin Invest. 2021 May 3;131(9):e139076. doi: 10.1172/JCI139076.
J Clin Invest. 2021.
PMID: 33755596
Free PMC article.
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Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.
Sarkozy A, et al.
J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.
J Neurol Neurosurg Psychiatry. 2018.
PMID: 29437916
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A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M.
Nicolau S, et al.
Neuromuscul Disord. 2019 Aug;29(8):614-617. doi: 10.1016/j.nmd.2019.07.001. Epub 2019 Jul 5.
Neuromuscul Disord. 2019.
PMID: 31378432
Free PMC article.
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Molecular evolution of the GDP-mannose pathway genes (manB and manC) in Salmonella enterica.
Jensen SO, Reeves PR.
Jensen SO, et al.
Microbiology (Reading). 2001 Mar;147(Pt 3):599-610. doi: 10.1099/00221287-147-3-599.
Microbiology (Reading). 2001.
PMID: 11238967
Free article.
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