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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 21"
Page 1
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H. Polavarapu K, et al. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially treatable with commonly available medications such as acetylcholinesterase inhibitors and beta2 adr …
Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with th …
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.
Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. Hamasaki Y, et al. BMC Nephrol. 2020 Aug 24;21(1):363. doi: 10.1186/s12882-020-02010-5. BMC Nephrol. 2020. PMID: 32838745 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. ...The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-typ …
BACKGROUND: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and …
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, Thierry B, Desguerre I, Cutrera R, Fauroux B. Caggiano S, et al. Eur J Paediatr Neurol. 2017 Nov;21(6):842-851. doi: 10.1016/j.ejpn.2017.07.010. Epub 2017 Jul 21. Eur J Paediatr Neurol. 2017. PMID: 28755803
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. ...
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained …
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our …
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, ar …
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Hoei-Hansen CE, Tygesen MLB, Dunø M, Vissing J, Ballegaard M, Born AP. Hoei-Hansen CE, et al. Neuropediatrics. 2021 Dec;52(6):462-468. doi: 10.1055/s-0041-1726120. Epub 2021 Mar 11. Neuropediatrics. 2021. PMID: 33706403
AIM: The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fib …
AIM: The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myastheni …
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.
Rodolico C, Parisi D, Portaro S, Biasini F, Sinicropi S, Ciranni A, Toscano A, Messina S, Musumeci O, Vita G, Girlanda P. Rodolico C, et al. J Neuromuscul Dis. 2016 Aug 30;3(3):413-418. doi: 10.3233/JND-160148. J Neuromuscul Dis. 2016. PMID: 27854225
OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting wit …
OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficu …
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. Cossins J, et al. Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1. Hum Mol Genet. 2012. PMID: 22661499
Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neuromuscular junction and result in fatiguable muscle weakness. ...
Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neurom …
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
Tan JZ, Man Y, Xiao F. Tan JZ, et al. Chin Med J (Engl). 2016 Nov 5;129(21):2596-2602. doi: 10.4103/0366-6999.192780. Chin Med J (Engl). 2016. PMID: 27779167 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presente …
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogen …
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. Mohney BG, et al. Ophthalmology. 2011 Jun;118(6):1137-44. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13. Ophthalmology. 2011. PMID: 21236492 Free PMC article.
PURPOSE: To describe a novel laminin beta-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome. ...
PURPOSE: To describe a novel laminin beta-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without mi …
Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission.
Maselli RA, Books W, Dunne V. Maselli RA, et al. Ann N Y Acad Sci. 2003 Sep;998:18-28. doi: 10.1196/annals.1254.004. Ann N Y Acad Sci. 2003. PMID: 14592859
This paper investigates the molecular bases of inherited presynaptic deficits of neuromuscular transmission in humans. Patients with congenital presynaptic failure, including two patients with episodic ataxia type 2 (EA-2) due to CACNA1A mutations, were studied with muscle …
This paper investigates the molecular bases of inherited presynaptic deficits of neuromuscular transmission in humans. Patients with cong …