pyridostigmine bromide has been researched along with Myasthenic Syndromes, Congenital in 37 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 9 (24.32) | 29.6817 |
2010's | 21 (56.76) | 24.3611 |
2020's | 7 (18.92) | 2.80 |
Authors | Studies |
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Batta, M; Caluseriu, O; Chu, ML; Cordat, E; Evrony, GD; Leslie, EM; Moran, ES; Pappas, J; Rizvi, M; Truong, TK; Zhou, J | 1 |
Andonova, S; Georgieva, D; Levkova, M; Tsalta-Mladenov, M | 1 |
Gonzalez Garcia, A; Sanchez Russo, R; Tutmaher, MS; Upadhyayula, SR; Verma, S | 1 |
Beeson, D; Cetin, H; Cheung, J; Cossins, J; Liu, WW; Maxwell, S; Palace, J; Ramjattan, H; Rodriguez Cruz, PM; Vanhaesebrouck, AE; Webster, R; Wickens, J | 1 |
Al-Muhaizea, MA; Albader, AA; Albakheet, A; AlHarbi, S; Alhumaidan, A; AlMass, R; AlQuait, L; AlRasheed, A; AlRasheed, MM; Colak, D; Kaya, N | 1 |
Bobadilla-Quesada, EJ; Carrera-García, L; Codina, A; Colomer, J; Corbera, J; Cuadras, D; Exposito-Escudero, J; Gallano, P; Gonzalez-Quereda, L; Jimenez-Mallebrera, C; Jou, C; Medina, J; Moya, O; Nascimento, A; Natera-de Benito, D; Ortez, C; Saez, V; Yoldi, ME | 1 |
Barros-Angueira, F; Eirís-Puñal, J; Fuentes-Pita, P; Gómez-Lado, C; López-Vázquez, A; Pardo, J; Pérez-Gay, L; Quintas-Rey, R | 1 |
Chen, H; Da, Y; Di, L; Engel, AG; Lu, Y; Selcen, D; Shen, XM | 1 |
Govindarajan, R; Singh, S | 1 |
Domingo Jiménez, R; Ghandour-Fabre, D; Ibáñez-Micó, S; Pérez-Cerdá, C | 1 |
Asghar, S; Kavanagh, R; Kumar, A; Wicklund, MP | 1 |
Cao, L; Chen, SD; Luan, XH; Tian, WT; Yang, J; Zhan, FX; Zhou, HY; Zhu, ZY | 1 |
Chávez, G; Engel, AG; Espinoza, IO; Reynoso, C | 1 |
Beeson, D; Belaya, K; Burke, G; Cossins, J; Finlayson, S; Holton, JL; Norwood, F; Palace, J; Pascual-Pascual, SI; Walls, TJ | 1 |
Memon, MN; Nizamani, NB; Talpur, KI | 1 |
Kang, PB; Liew, WK | 1 |
Asai, N; Cabrera-Serrano, M; Engel, AG; Ito, K; Ito, M; Ito, Y; Masuda, A; Milone, M; Nakata, T; Ohkawara, B; Ohno, K | 1 |
Flitcroft, I; Lanigan, B; McElnea, EM; Stephenson, K | 1 |
Almodovar, JL; Bansagi, B; Hasan, BA; Herrmann, DN; Horvath, R; Littleton, JT; Lochmüller, H; Lofra, RM; Logigian, EL; Sowden, JE; Whittaker, RG; Zuchner, S | 1 |
Abicht, A; Bestué, M; Camacho, A; Colomer, J; Dusl, M; Evangelista, T; García-Hoyos, M; García-Ribes, A; Jiménez, E; Lochmüller, H; Nascimento, A; Natera-de Benito, D; Ortez, C; Töpf, A; Trujillo-Tiebas, MJ; Vilchez, JJ | 1 |
Ahmad-Annuar, A; Ambang, T; Goh, KJ; Rajahram, GS; Tan, JS; Wong, KT | 1 |
Agus, MS; Burgess, SL; Burpee, TM; Darras, BT; Estrella, E; Kang, PB; Kunkel, LM; Mallory, LA; Nurko, S; Shaw, JG | 1 |
Argov, Z | 1 |
Abicht, A; Abuzeid, HA; El-Sadig, SM; Guergueltcheva, V; Huebner, A; Lochmüller, H; Mihaylova, V; Mukhtar, MM; Müller, JS; Nürnberg, G; Salih, MA; von der Hagen, M | 1 |
Kaas, B; Kohn, RE; Leatherman, A; Schleidt, S; Vaidya, AR | 1 |
Al-Diwani, A; Bouzat, C; Buckingham, SD; Hernando, G; Jones, AK; Jones, R; Maynard, TP; Rayes, D; Sattelle, DB | 1 |
Abu-Amero, KK; Al-Faky, YH; Beeson, D; Bosley, TM; Kabiraj, M; Omer, MI; Oystreck, DT; Salih, MA; Subahi, EM | 1 |
Ansaloni, S; Baroncini, S; Cecini, MT; Cordelli, DM; Gentili, A; Morello, W | 1 |
Caksen, H; Ceylan, A; Peker, E; Sari, S; Sayin, R; Tuncer, O | 1 |
Abicht, A; Argov, Z; Chaouch, A; Colomer, J; Dusl, M; Guergueltcheva, V; Lindberg, C; Lochmüller, H; Muelas, N; Müller, JS; Nascimento, A; Rakocević-Stojanović, V; Schara, U; Scola, RH; Vilchez, JJ; Werneck, LC | 1 |
Falsaperla, R; Pavone, P; Pavone, V; Praticò, AD | 1 |
Byring, RF; Engel, A; Gustafsson, B; Hackman, P; Ohno, K; Pihko, H; Udd, B | 1 |
Bodnar, JA; Connolly, AM; Gurnett, CA; Neil, J | 1 |
Beeson, D; Burke, G; Cossins, J; Maxwell, S; Newsom-Davis, J; Nicolle, M; Palace, J; Robb, S; Vincent, A | 1 |
Casanova-Sorní, C; Monte-Boquet, E; Pelufo-Pellicer, A; Poveda-Andrés, JL; Romá-Sánchez, E | 1 |
McConkey, PP; Mullens, AJ | 1 |
Buncic, JR; Mullaney, P; Smith, R; Vajsar, J | 1 |
2 review(s) available for pyridostigmine bromide and Myasthenic Syndromes, Congenital
Article | Year |
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Update on juvenile myasthenia gravis.
Topics: Age of Onset; Child; Child, Preschool; Cholinesterase Inhibitors; Electromyography; Female; Glucocorticoids; Humans; Immunoglobulins, Intravenous; Immunosuppression Therapy; Infant; Male; Myasthenia Gravis, Neonatal; Myasthenic Syndromes, Congenital; Plasmapheresis; Pyridostigmine Bromide; Randomized Controlled Trials as Topic; Thymectomy | 2013 |
Management of myasthenic conditions: nonimmune issues.
Topics: 4-Aminopyridine; Amifampridine; Cholinesterase Inhibitors; Electrodiagnosis; Humans; Myasthenia Gravis; Myasthenic Syndromes, Congenital; Oligodeoxyribonucleotides, Antisense; Potassium Channel Blockers; Pyridostigmine Bromide; Respiratory Insufficiency | 2009 |
1 trial(s) available for pyridostigmine bromide and Myasthenic Syndromes, Congenital
Article | Year |
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Distinct phenotypes of congenital acetylcholine receptor deficiency.
Topics: 4-Aminopyridine; Adolescent; Adult; Aged; Amifampridine; Cell Line; Child; Child, Preschool; Cholinesterase Inhibitors; DNA Mutational Analysis; Drug Therapy, Combination; Electric Stimulation; Electromyography; Electrophysiology; Embryo, Mammalian; Ephedrine; Evoked Potentials, Motor; Female; Fluorescent Antibody Technique; Humans; Kidney; Male; Middle Aged; Muscle Proteins; Muscles; Mutation; Myasthenic Syndromes, Congenital; Phenotype; Potassium Channel Blockers; Protein Subunits; Pyridostigmine Bromide; Receptors, Cholinergic; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sequence Analysis, DNA; Severity of Illness Index; Sympathomimetics; Transfection | 2004 |
34 other study(ies) available for pyridostigmine bromide and Myasthenic Syndromes, Congenital
Article | Year |
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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Topics: Cell Membrane; Child; Half-Life; HEK293 Cells; Humans; Male; Mutant Proteins; Mutation; Myasthenic Syndromes, Congenital; Protein Transport; Pyridostigmine Bromide; Quality of Life; Staurosporine; Symporters | 2023 |
Congenital myasthenic syndrome due to a genetic mutation.
Topics: Adult; Humans; Male; Mutation; Myasthenia Gravis; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Treatment Outcome | 2023 |
Novel PLEC gene variants causing congenital myasthenic syndrome.
Topics: Child; Child, Preschool; Cholinesterase Inhibitors; Epidermolysis Bullosa Simplex; Female; Heterozygote; Humans; Infant; Male; Mutation; Myasthenic Syndromes, Congenital; Plectin; Pyridostigmine Bromide; Siblings | 2019 |
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 Inhibitors; Disease Models, Animal; Humans; Mice; Myasthenic Syndromes, Congenital; Neuromuscular Junction; Pyridostigmine Bromide; Synaptic Transmission | 2019 |
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Topics: Child, Preschool; Female; Humans; Muscle Hypotonia; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Vesicle-Associated Membrane Protein 1 | 2020 |
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Topics: Adult; Dystroglycans; Female; Humans; Male; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Myasthenic Syndromes, Congenital; Nucleotidyltransferases; Pyridostigmine Bromide | 2020 |
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
Topics: Alleles; Child; Electromyography; Ephedrine; Female; Heterozygote; Humans; Muscle Weakness; Mutation, Missense; Myasthenic Syndromes, Congenital; Phenotype; Point Mutation; Pyridostigmine Bromide; Receptors, Nicotinic | 2020 |
Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia.
Topics: Adult; Cholinesterase Inhibitors; Electromyography; Female; Humans; Membrane Transport Modulators; Middle Aged; Muscle, Skeletal; Myasthenic Syndromes, Congenital; Pedigree; Pyridostigmine Bromide; Receptors, Cholinergic; Young Adult | 2020 |
Presentation and management of congenital myasthenic syndrome with a homozygous Agrin variant (Pro1448Leu).
Topics: Adolescent; Agrin; Cholinesterase Inhibitors; Diagnosis, Differential; Disease Management; Female; Genetic Variation; Homozygote; Humans; Leucine; Myasthenic Syndromes, Congenital; Proline; Pyridostigmine Bromide | 2020 |
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Topics: Autism Spectrum Disorder; Child; Cholinesterase Inhibitors; Congenital Disorders of Glycosylation; Humans; Mutation; Myasthenic Syndromes, Congenital; N-Acetylglucosaminyltransferases; Pyridostigmine Bromide | 2019 |
Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation.
Topics: Cholinesterase Inhibitors; Homozygote; Humans; Infant; Male; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide | 2018 |
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Topics: Autophagy; Dystroglycans; Extremities; Female; HEK293 Cells; Humans; Lysosomes; Magnetic Resonance Imaging; Microtubule-Associated Proteins; Muscles; Muscular Dystrophies, Limb-Girdle; Mutation, Missense; Myasthenic Syndromes, Congenital; Nucleotidyltransferases; Pyridostigmine Bromide; Young Adult | 2019 |
Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.
Topics: Child, Preschool; Cholinesterase Inhibitors; Humans; Male; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide | 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; Biopsy; Cholinesterase Inhibitors; Diagnosis, Differential; DNA Mutational Analysis; Exome; Female; Genetic Testing; Glycosylation; Humans; Male; Middle Aged; Motor Neurons; Muscle, Skeletal; Myasthenic Syndromes, Congenital; N-Acetylglucosaminyltransferases; Neurologic Examination; Neuromuscular Junction; Phenotype; Potassium Channel Blockers; Pyridostigmine Bromide | 2013 |
Congenital myasthenia gravis.
Topics: Child, Preschool; Cholinesterase Inhibitors; Humans; Male; Myasthenic Syndromes, Congenital; Neostigmine; Pyridostigmine Bromide; Receptors, Cholinergic; Treatment Outcome | 2013 |
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Topics: Adolescent; Agrin; Animals; Base Sequence; beta Catenin; Cell Line; Chlorocebus aethiops; Cholinergic Agonists; Cholinesterase Inhibitors; COS Cells; Edrophonium; Enzyme Activation; Female; HEK293 Cells; Humans; LDL-Receptor Related Proteins; Mice; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Neuromuscular Junction; Protein Structure, Tertiary; Pyridostigmine Bromide; Receptor Protein-Tyrosine Kinases; Receptors, Cholinergic; Sequence Analysis, DNA; Wnt Proteins; Wnt Signaling Pathway | 2014 |
An ocular motility conundrum.
Topics: Blepharoptosis; Brain Diseases; Child; Cholinesterase Inhibitors; Cysts; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Male; Myasthenic Syndromes, Congenital; Ocular Motility Disorders; Pineal Gland; Pyridostigmine Bromide | 2014 |
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Topics: 4-Aminopyridine; Adolescent; Adult; Aged; Amifampridine; Child; Electrophysiological Phenomena; Female; Humans; Male; Middle Aged; Mutation; Myasthenic Syndromes, Congenital; Potassium Channel Blockers; Pyridostigmine Bromide; Reflex; Synaptic Transmission; Synaptotagmin II; Young Adult | 2015 |
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Topics: 4-Aminopyridine; Adolescent; Adult; Amifampridine; Child; Child, Preschool; Cholinesterase Inhibitors; Disease Progression; Female; Follow-Up Studies; Humans; Male; Middle Aged; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Phenotype; Potassium Channel Blockers; Pyridostigmine Bromide; Young Adult | 2016 |
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
Topics: Asian People; Choline O-Acetyltransferase; Cholinesterase Inhibitors; Heterozygote; Humans; Malaysia; Male; Mutation; Myasthenic Syndromes, Congenital; Pedigree; Pyridostigmine Bromide; Siblings; Young Adult | 2016 |
Congenital myasthenic syndrome with episodic apnea.
Topics: Amino Acid Sequence; Apnea; Blepharoptosis; Choline O-Acetyltransferase; Cholinesterase Inhibitors; Conserved Sequence; Diagnosis, Differential; Female; Humans; Hypnotics and Sedatives; Infant; Midazolam; Molecular Sequence Data; Mutation; Myasthenic Syndromes, Congenital; Pedigree; Pyridostigmine Bromide; Respiration; Treatment Outcome | 2009 |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Topics: Adolescent; Arginine; Cholinesterase Inhibitors; DNA Mutational Analysis; Family Health; Female; Humans; Longitudinal Studies; Male; Mutation; Myasthenic Syndromes, Congenital; Phenotype; Proline; Pyridostigmine Bromide; Receptor Protein-Tyrosine Kinases; Receptors, Cholinergic; Young Adult | 2009 |
Technical report: exploring the basis of congenital myasthenic syndromes in an undergraduate course, using the model organism, Caenorhabditis elegans.
Topics: Animals; Caenorhabditis elegans; Caenorhabditis elegans Proteins; Cholinesterase Inhibitors; Disease Models, Animal; Education, Medical, Undergraduate; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Receptors, Nicotinic | 2010 |
A Cys-loop mutation in the Caenorhabditis elegans nicotinic receptor subunit UNC-63 impairs but does not abolish channel function.
Topics: 4-Aminopyridine; Amifampridine; Animals; Caenorhabditis elegans; Caenorhabditis elegans Proteins; Cholinesterase Inhibitors; Disease Models, Animal; Gene Expression Regulation; Humans; Muscles; Mutation; Myasthenic Syndromes, Congenital; Neuromuscular Junction; Potassium Channel Blockers; Protein Structure, Secondary; Pyridostigmine Bromide; Receptors, Nicotinic; Swimming | 2011 |
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Topics: Adolescent; Genetic Predisposition to Disease; Homozygote; Humans; Male; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Receptors, Nicotinic; Saudi Arabia; Siblings; Treatment Outcome; Young Adult | 2011 |
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
Topics: Anesthesia, General; Child, Preschool; Heterozygote; Homozygote; Humans; Lung Diseases; Male; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Postoperative Complications; Pyridostigmine Bromide; Respiration, Artificial | 2011 |
Congenital myasthenic syndrome: a case report.
Topics: Autoantibodies; Cholinesterase Inhibitors; Consanguinity; Electromyography; Humans; Infant; Male; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Receptors, Cholinergic; Respiratory Insufficiency | 2011 |
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Topics: Adolescent; Adult; Aged; Cholinesterase Inhibitors; Female; Fluoxetine; Follow-Up Studies; Humans; Male; Middle Aged; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Retrospective Studies; Selective Serotonin Reuptake Inhibitors; Treatment Outcome; Young Adult | 2012 |
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
Topics: Child; Cholinesterase Inhibitors; Genotype; Humans; Male; Myasthenic Syndromes, Congenital; Phenotype; Pyridostigmine Bromide; Treatment Outcome; Twins, Dizygotic | 2013 |
[Respiratory arrests caused by congenital myasthenia gravis syndrome].
Topics: Apnea; Child; Choline O-Acetyltransferase; Cholinesterase Inhibitors; Female; Humans; Mutation; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Treatment Outcome | 2002 |
Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy.
Topics: Autoantibodies; Biopsy; Child; Child, Preschool; Cholinesterase Inhibitors; Diagnosis, Differential; Electric Stimulation; Electromyography; Evoked Potentials, Motor; Female; Follow-Up Studies; Hand Strength; Humans; Infant; Male; Muscle, Skeletal; Myasthenic Syndromes, Congenital; Neural Conduction; Neurologic Examination; Peroneal Nerve; Pyridostigmine Bromide; Receptors, Cholinergic | 2004 |
Fetal exposure to 3,4-diaminopyridine in a pregnant woman with congenital myasthenia syndrome.
Topics: 4-Aminopyridine; Adult; Amifampridine; Apgar Score; Drug Therapy, Combination; Female; Fetal Development; Humans; Infant, Newborn; Male; Myasthenic Syndromes, Congenital; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pyridostigmine Bromide | 2006 |
Congenital myasthenic syndrome: a rare, potentially treatable cause of respiratory failure in a "floppy" infant.
Topics: Cholinesterase Inhibitors; Electromyography; Humans; Infant; Male; Myasthenic Syndromes, Congenital; Pyridostigmine Bromide; Respiratory Insufficiency | 2000 |
The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.
Topics: Adolescent; Blepharoptosis; Child; Child, Preschool; Cholinesterase Inhibitors; Disease Progression; Female; Glucocorticoids; Hospitals, Pediatric; Humans; Infant; Infant, Newborn; Male; Myasthenia Gravis; Myasthenia Gravis, Neonatal; Myasthenic Syndromes, Congenital; Ontario; Ophthalmoplegia; Prednisone; Pyridostigmine Bromide; Retrospective Studies; Strabismus | 2000 |