albuterol has been researched along with Congenital Myasthenia in 33 studies
Albuterol: A short-acting beta-2 adrenergic agonist that is primarily used as a bronchodilator agent to treat ASTHMA. Albuterol is prepared as a racemic mixture of R(-) and S(+) stereoisomers. The stereospecific preparation of R(-) isomer of albuterol is referred to as levalbuterol.
albuterol : A member of the class of phenylethanolamines that is 4-(2-amino-1-hydroxyethyl)-2-(hydroxymethyl)phenol having a tert-butyl group attached to the nirogen atom. It acts as a beta-adrenergic agonist used in the treatment of asthma and chronic obstructive pulmonary disease (COPD).
| Excerpt | Relevance | Reference |
|---|---|---|
| "Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence." | 2.72 | Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review. ( Caetano, A; Fernandes, M; Medeiros, E; Pinto, M; Santos, L, 2021) |
| "DOK7 (downstream of tyrosine kinase 7) congenital myasthenic syndrome was previously treated successfully with ephedrine and salbutamol; however, both are unavailable in the United States." | 2.53 | Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. ( Tsao, CY, 2016) |
| "Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies." | 1.72 | Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation. ( King, PH; Oh, SJ; Schindler, A, 2022) |
| "Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol." | 1.42 | Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation. ( Bhutada, A; Hegde, M; Khadilkar, S; Nallamilli, B, 2015) |
| "A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported." | 1.39 | Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. ( Beeson, D; Belaya, K; Burke, G; Cossins, J; Finlayson, S; Holton, JL; Norwood, F; Palace, J; Pascual-Pascual, SI; Walls, TJ, 2013) |
| "This family needs to be reclassified as congenital myasthenic syndrome rather than congenital muscular dystrophy." | 1.39 | DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. ( Abicht, A; Lochmüller, H; Mahjneh, I; Muntoni, F, 2013) |
| "Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation." | 1.39 | Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. ( Beeson, D; Finlayson, S; Howard, R; Kullmann, DM; Palace, J; Spillane, J; Webster, R, 2013) |
| "Treatment with albuterol resulted in progressive improvement of muscle strength, exercise tolerance, and ophthalmoplegia." | 1.38 | Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. ( Chan, SH; Engel, AG; Wong, VC, 2012) |
| "Treatment with ephedrine or oral salbutamol can result in a slow, steady, and often dramatic improvement over months." | 1.38 | DOK7 congenital myasthenic syndrome. ( Palace, J, 2012) |
| "In slow-channel congenital myasthenic syndrome, point mutations of the endplate acetylcholine receptor (AChR) prolong channel openings, leading to excessive Ca(2+) entry with ensuing endplate degeneration and myasthenic symptoms." | 1.37 | Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel. ( Bigi, R; Deflorio, C; Fucile, S; Grassi, F; Piccari, V, 2011) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 22 (66.67) | 24.3611 |
| 2020's | 11 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Ehrstedt, C | 1 |
| Liu, WW | 3 |
| Frykholm, C | 1 |
| Beeson, D | 8 |
| Punga, AR | 1 |
| Tayade, K | 1 |
| Salunkhe, M | 1 |
| Agarwal, A | 1 |
| Radhakrishnan, DM | 1 |
| Srivastava, AK | 1 |
| Dutta, A | 1 |
| Chakraborty, A | 1 |
| Das, S | 1 |
| Dubey, S | 1 |
| Pandit, A | 1 |
| Garg, D | 1 |
| Goyal, V | 1 |
| Oh, SJ | 3 |
| King, PH | 3 |
| Schindler, A | 3 |
| Ohno, K | 2 |
| Ohkawara, B | 1 |
| Shen, XM | 2 |
| Selcen, D | 2 |
| Engel, AG | 4 |
| McMacken, G | 2 |
| Whittaker, RG | 2 |
| Wake, R | 1 |
| Lochmuller, H | 6 |
| Horvath, R | 2 |
| Mishra, S | 1 |
| Nair, KV | 1 |
| Shukla, A | 1 |
| Vanhaesebrouck, AE | 2 |
| Webster, R | 2 |
| Maxwell, S | 1 |
| Rodriguez Cruz, PM | 2 |
| Cossins, J | 3 |
| Wickens, J | 1 |
| Cetin, H | 1 |
| Cheung, J | 1 |
| Ramjattan, H | 2 |
| Palace, J | 5 |
| Webster, RG | 1 |
| Maxwell, SE | 1 |
| Cossins, JA | 1 |
| Liu, W | 1 |
| Ueta, R | 1 |
| Yamanashi, Y | 1 |
| Beeson, DMW | 1 |
| Tawara, N | 1 |
| Yamashita, S | 1 |
| Takamatsu, K | 1 |
| Yamasaki, Y | 1 |
| Mukaino, A | 1 |
| Nakane, S | 1 |
| Farshadyeganeh, P | 1 |
| Ando, Y | 1 |
| Fernandes, M | 1 |
| Caetano, A | 1 |
| Pinto, M | 1 |
| Medeiros, E | 1 |
| Santos, L | 1 |
| Xi, J | 1 |
| Yan, C | 1 |
| Qiao, K | 1 |
| Lin, J | 1 |
| Tian, X | 1 |
| Wu, H | 1 |
| Lu, J | 1 |
| Wong, LJ | 1 |
| Zhao, C | 1 |
| Legay, C | 1 |
| Cox, D | 1 |
| Roos, A | 1 |
| Müller, J | 1 |
| Whittaker, R | 1 |
| Clausen, L | 1 |
| Eymard, B | 1 |
| McMacken, GM | 1 |
| Spendiff, S | 1 |
| O'Connor, E | 1 |
| Howarth, RM | 1 |
| Boczonadi, V | 1 |
| Slater, CR | 1 |
| Finlayson, S | 2 |
| Belaya, K | 1 |
| Walls, TJ | 1 |
| Norwood, F | 1 |
| Burke, G | 2 |
| Holton, JL | 1 |
| Pascual-Pascual, SI | 1 |
| Lorenzoni, PJ | 1 |
| Scola, RH | 1 |
| Kay, CS | 1 |
| Filla, L | 1 |
| Miranda, AP | 1 |
| Pinheiro, JM | 1 |
| Chaouch, A | 1 |
| Werneck, LC | 1 |
| Gallenmüller, C | 1 |
| Müller-Felber, W | 1 |
| Dusl, M | 1 |
| Stucka, R | 1 |
| Guergueltcheva, V | 1 |
| Blaschek, A | 1 |
| von der Hagen, M | 1 |
| Huebner, A | 1 |
| Müller, JS | 1 |
| Abicht, A | 2 |
| Khadilkar, S | 1 |
| Bhutada, A | 1 |
| Nallamilli, B | 1 |
| Hegde, M | 1 |
| Jayawant, S | 1 |
| Robb, SA | 1 |
| Tsao, CY | 1 |
| Padmanabha, H | 1 |
| Saini, AG | 1 |
| Sankhyan, N | 1 |
| Singhi, P | 1 |
| Piccari, V | 1 |
| Deflorio, C | 1 |
| Bigi, R | 1 |
| Grassi, F | 1 |
| Fucile, S | 1 |
| Sadeh, M | 1 |
| Liewluck, T | 1 |
| Chan, SH | 1 |
| Wong, VC | 1 |
| Mahjneh, I | 1 |
| Muntoni, F | 2 |
| Hiscock, A | 1 |
| Klein, A | 1 |
| Niks, EH | 1 |
| Main, M | 1 |
| Manzur, AY | 1 |
| Ng, J | 1 |
| de Vile, C | 1 |
| Robb, S | 1 |
| Spillane, J | 1 |
| Kullmann, DM | 1 |
| Howard, R | 1 |
6 reviews available for albuterol and Congenital Myasthenia
| Article | Year |
|---|---|
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Topics: Albuterol; Amifampridine; Cholinesterase Inhibitors; Humans; Mitochondrial Proteins; Mutation; Myast | 2023 |
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Topics: Albuterol; Asian People; Chromosomes, Human, Pair 3; Humans; Myasthenic Syndromes, Congenital; South | 2023 |
Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.
Topics: Adult; Albuterol; Female; Humans; Muscle Proteins; Myasthenic Syndromes, Congenital; Portugal; Pregn | 2021 |
Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Topics: Acetylcholine; Acetylcholinesterase; Adrenergic beta-2 Receptor Agonists; Albuterol; Animals; Collag | 2018 |
[Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)].
Topics: Albuterol; Cholinesterase Inhibitors; Drug Repositioning; Ephedrine; Health Services Accessibility; | 2019 |
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Topics: Albuterol; Child; Humans; Male; Muscle Proteins; Myasthenic Syndromes, Congenital; Neuromuscular Age | 2016 |
27 other studies available for albuterol and Congenital Myasthenia
| Article | Year |
|---|---|
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.
Topics: Albuterol; Electromyography; Ephedrine; Female; HEK293 Cells; Humans; Infant, Newborn; Muscle Protei | 2022 |
DOK7 congenital myasthenic syndrome responsive to oral salbutamol.
Topics: Albuterol; Humans; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital | 2022 |
Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation.
Topics: Albuterol; Humans; Mutation; Myasthenic Syndromes, Congenital; Receptors, Cholinergic; Receptors, Ni | 2022 |
Positive response to inhaled salbutamol in congenital myasthenic syndrome due to CHRNE mutation.
Topics: Albuterol; Humans; Mutation; Myasthenia Gravis; Myasthenic Syndromes, Congenital; Receptors, Nicotin | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Topics: Albuterol; Humans; Male; Muscle Weakness; Mutation; Myasthenic Syndromes, Congenital; Steroids | 2022 |
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
Topics: Albuterol; Charcot-Marie-Tooth Disease; Genetic Heterogeneity; Humans; Myasthenic Syndromes, Congeni | 2023 |
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Topics: Action Potentials; Adrenergic beta-2 Receptor Agonists; Albuterol; Animals; Cholinesterase Inhibitor | 2019 |
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
Topics: Albuterol; Animals; Disease Models, Animal; Female; Humans; Mice; Muscle Proteins; Myasthenic Syndro | 2020 |
Efficacy of salbutamol monotherapy in slow-channel congenital myasthenic syndrome caused by a novel mutation in CHRND.
Topics: Adult; Albuterol; Humans; Male; Mutation; Myasthenic Syndromes, Congenital; Neuromuscular Junction; | 2021 |
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Topics: Adult; Agrin; Albuterol; Electrophysiology; Exons; HEK293 Cells; Humans; Male; Muscle Fibers, Skelet | 2017 |
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.
Topics: Adrenergic beta-Agonists; Albuterol; Animals; Colforsin; Fluorescent Antibody Technique; Humans; Mus | 2018 |
Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.
Topics: Adrenergic beta-2 Receptor Agonists; Albuterol; Animals; Blotting, Western; Cell Line; Frameshift Mu | 2018 |
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.
Topics: Acetylcholinesterase; Adrenergic beta-Agonists; Agrin; Albuterol; Animals; Collagen; Disease Models, | 2019 |
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Topics: 4-Aminopyridine; Adrenergic beta-2 Receptor Agonists; Adult; Age of Onset; Albuterol; Amifampridine; | 2013 |
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Topics: Adolescent; Adrenergic beta-2 Receptor Agonists; Adult; Age Factors; Albuterol; Female; Follow-Up St | 2013 |
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Topics: Albuterol; Alleles; Humans; Male; Mutation, Missense; Myasthenic Syndromes, Congenital; Receptor Pro | 2014 |
Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
Topics: Adaptor Proteins, Signal Transducing; Adrenergic beta-2 Receptor Agonists; Albuterol; Child; Female; | 2015 |
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Topics: Adolescent; Adult; Albuterol; Cohort Studies; Drug Therapy, Combination; Ephedrine; Female; Humans; | 2015 |
COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.
Topics: Acetylcholinesterase; Adrenergic beta-2 Receptor Agonists; Albuterol; Collagen; Humans; Infant; Male | 2017 |
Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
Topics: Albuterol; Amino Acid Substitution; Animals; Apoptosis; Calcium; Cell Line; Humans; Motor Endplate; | 2011 |
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.
Topics: Adrenergic beta-2 Receptor Agonists; Adult; Albuterol; Female; Humans; Middle Aged; Mutation; Myasth | 2011 |
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Topics: Acetylcholinesterase; Adolescent; Adult; Albuterol; Child; Child, Preschool; Female; Humans; Male; M | 2011 |
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.
Topics: Acetylcholinesterase; Albuterol; Child; Humans; Male; Myasthenic Syndromes, Congenital; Neuromuscula | 2012 |
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
Topics: Adrenergic beta-2 Receptor Agonists; Adult; Albuterol; Diagnosis, Differential; Ephedrine; Female; H | 2013 |
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
Topics: Administration, Oral; Adolescent; Adrenergic beta-2 Receptor Agonists; Albuterol; Child; Child, Pres | 2013 |
DOK7 congenital myasthenic syndrome.
Topics: Adolescent; Adult; Albuterol; Child; Child, Preschool; Diagnosis, Differential; Drug Therapy, Combin | 2012 |
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
Topics: Adrenergic beta-2 Receptor Agonists; Albuterol; Drug Therapy, Combination; Fluoxetine; Humans; Male; | 2013 |