glycogen phosphorylase, muscle associated ; Homo sapiens






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1 588100 Muscle-type phosphorylase activity present in muscle cells cultured from three patients with myophosphorylase deficiency. Arch Neurol 1977 Dec 1
2 2934518 Myopathies due to enzyme deficiencies. J Neurol 1985 1
3 3861283 Early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS electrophoresis. The role of the ischemic forearm test. Clin Neurol Neurosurg 1985 2
4 4050136 [Pathological myophosphorylase reaction in malignant hyperthermia]. Z Rechtsmed 1985 1
5 8101435 Linkage analysis of 7 polymorphic markers at chromosome 11p11.2-11q13 in 27 multiple endocrine neoplasia type 1 families. Ann Hum Genet 1993 Jan 2
6 8482239 [Acute myoglobinuric kidney failure in McArdle's syndrome. The diagnostic significance of 31P nuclear magnetic resonance spectroscopy]. Dtsch Med Wochenschr 1993 Apr 30 1
7 9341881 The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. Hum Genet 1997 Oct 1
8 10450796 Molecular characterization of McArdle's disease in two large Finnish families. J Neurol Sci 1999 Jun 1 1
9 10590419 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. Muscle Nerve 2000 Jan 2
10 10679948 Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease. Hum Mutat 2000 Mar 1
11 10899452 A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. Neuromuscul Disord 2000 Aug 4
12 12223025 Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol 2002 Sep 2
13 17915571 McArdle disease: molecular genetic update. Acta Myol 2007 Jul 2
14 18401027 Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 2008 May 13 1
15 18808785 [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. Rev Neurol (Paris) 2008 Nov 2
16 19878922 [McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. Ann Endocrinol (Paris) 2009 Dec 1
17 22818872 Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon. Neuromuscul Disord 2013 Jan 2
18 22899091 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 2013 Feb 1
19 25694429 Guanine nucleotide exchange factor αPIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells. J Biol Chem 2015 Apr 3 1
20 26861723 Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease. Curr Pharm Des 2016 1
21 26907767 Whole exome sequencing of rare aggressive breast cancer histologies. Breast Cancer Res Treat 2016 Feb 3
22 27519475 Lck/PLCγ control migration and proliferation of interleukin (IL)-2-stimulated T cells via the Rac1 GTPase/glycogen phosphorylase pathway. Cell Signal 2016 Nov 1
23 28120463 Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. Muscle Nerve 2018 Jan 4
24 29371640 Clinical utility gene card for McArdle disease. Eur J Hum Genet 2018 May 1
25 30011114 Missense mutations have unexpected consequences: The McArdle disease paradigm. Hum Mutat 2018 Oct 1
26 30397902 Myopathies Related to Glycogen Metabolism Disorders. Neurotherapeutics 2018 Oct 2
27 31324732 Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. Biosci Rep 2019 Jul 31 1
28 32124677 Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic Genet 2020 Feb 1
29 32386344 A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Ann Neurol 2020 Aug 5
30 33985978 Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease. Clin Med Res 2021 Jun 1
31 34373715 Molecular diagnosis of McArdle disease using whole-exome sequencing. Exp Ther Med 2021 Sep 1
32 35254536 Linc-RAM promotes muscle cell differentiation via regulating glycogen phosphorylase activity. Cell Regen 2022 Mar 7 5