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Items: 1 to 20 of 124

1.

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

Svaasand EK, Aasly J, Landsem VM, Klungland H.

Muscle Nerve. 2007 Nov;36(5):679-84.

PMID:
17661373
2.

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A.

Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30.

PMID:
22705348
3.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
4.
5.

Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.

Tamai M, Kawano T, Saito R, Sakurai K, Saito Y, Yamada H, Ida H, Akiyama M.

Int J Hematol. 2014 Oct;100(4):393-7. doi: 10.1007/s12185-014-1615-x. Epub 2014 Jun 17.

PMID:
24934115
6.

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.

Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S.

Br J Haematol. 2003 Sep;122(6):1009-13. Review.

PMID:
12956773
7.

Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.

Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R.

Blood. 1994 Aug 1;84(3):898-903.

8.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S.

Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20.

PMID:
19157875
9.

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

DiMauro S, Dalakas M, Miranda AF.

Ann Neurol. 1983 Jan;13(1):11-9.

PMID:
6830158
11.

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL.

Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added].

PMID:
16412025
12.

Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred.

Turner G, Fletcher J, Elber J, Yanagawa Y, Davé V, Yoshida A.

Br J Haematol. 1995 Sep;91(1):60-5.

PMID:
7577653
13.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
14.

Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation.

Hamano T, Mutoh T, Sugie H, Koga H, Kuriyama M.

Neurology. 2000 Mar 14;54(5):1188-90.

PMID:
10720297
15.

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R.

Neuromuscul Disord. 2016 Mar;26(3):207-10. doi: 10.1016/j.nmd.2015.11.008. Epub 2015 Nov 30.

PMID:
26883264
16.

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G.

PLoS One. 2012;7(2):e32065. doi: 10.1371/journal.pone.0032065. Epub 2012 Feb 14.

17.

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S.

Ann Neurol. 1994 Mar;35(3):349-53.

PMID:
8122886
18.

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

Shirakawa K, Takahashi Y, Miyajima H.

Neurology. 2006 Mar 28;66(6):925-7.

PMID:
16567715
19.

Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S.

Muscle Nerve. 2010 May;41(5):707-10. doi: 10.1002/mus.21612.

PMID:
20151463
20.

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