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 |