PubMed (OMIM) for id: 335112

Year	Number of Results
1986	1
1989	1
1990	2
1992	1
1993	3
1994	2
1998	1
2024	0

1

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.

Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S. Bruno C, et al. Biochem Biophys Res Commun. 1998 Aug 28;249(3):648-51. doi: 10.1006/bbrc.1998.9211. Biochem Biophys Res Commun. 1998. PMID: 9731190 Free article.

2

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.

Lafrenière RG, Brown CJ, Rider S, Chelly J, Taillon-Miller P, Chinault AC, Monaco AP, Willard HF. Lafrenière RG, et al. Hum Mol Genet. 1993 Aug;2(8):1105-15. doi: 10.1093/hmg/2.8.1105. Hum Mol Genet. 1993. PMID: 8401491

3

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

Schneider A, Davidson JJ, Wüllrich A, Kilimann MW. Schneider A, et al. Nat Genet. 1993 Dec;5(4):381-5. doi: 10.1038/ng1293-381. Nat Genet. 1993. PMID: 8298647

4

The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.

Wüllrich A, Hamacher C, Schneider A, Kilimann MW. Wüllrich A, et al. J Biol Chem. 1993 Nov 5;268(31):23208-14. J Biol Chem. 1993. PMID: 8226841 Free article.

5

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.

Wilkinson DA, Tonin P, Shanske S, Lombes A, Carlson GM, DiMauro S. Wilkinson DA, et al. Neurology. 1994 Mar;44(3 Pt 1):461-6. doi: 10.1212/wnl.44.3_part_1.461. Neurology. 1994. PMID: 8145916

6

Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.

Wehner M, Clemens PR, Engel AG, Kilimann MW. Wehner M, et al. Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983. Hum Mol Genet. 1994. PMID: 7874115

7

Adult muscle phosphorylase "b" kinase deficiency.

Abarbanel JM, Bashan N, Potashnik R, Osimani A, Moses SW, Herishanu Y. Abarbanel JM, et al. Neurology. 1986 Apr;36(4):560-2. doi: 10.1212/wnl.36.4.560. Neurology. 1986. PMID: 3083284

8

Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Francke U, Darras BT, Zander NF, Kilimann MW. Francke U, et al. Am J Hum Genet. 1989 Aug;45(2):276-82. Am J Hum Genet. 1989. PMID: 2757032 Free PMC article.

9

Adult phosphorylase b kinase deficiency.

Clemens PR, Yamamoto M, Engel AG. Clemens PR, et al. Ann Neurol. 1990 Oct;28(4):529-38. doi: 10.1002/ana.410280410. Ann Neurol. 1990. PMID: 2252364 Review.

10

Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.

Barnard PJ, Derry JM, Ryder-Cook AS, Zander NF, Kilimann MW. Barnard PJ, et al. Cytogenet Cell Genet. 1990;53(2-3):91-4. doi: 10.1159/000132902. Cytogenet Cell Genet. 1990. PMID: 1973380

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