المؤلفون: Ziaadini, Bentolhoda¹ (AUTHOR), Ghaderi Yazdi, Bardyia^2,3 (AUTHOR), Dirandeh, Elham⁴ (AUTHOR), Boostani, Reza⁵ (AUTHOR), Karimi, Narges⁶ (AUTHOR), Panahi, Akram^2,3 (AUTHOR), Kariminejad, Ariana⁷ (AUTHOR), Fadaee, Mahsa⁷ (AUTHOR), Ahangari, Fatemeh⁷ (AUTHOR), Nafissi, Shahriar^2,3 (AUTHOR) nafisi@sina.tums.ac.ir

المصدر: BMC Neurology. 6/21/2024, Vol. 24 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *LITERATURE reviews, *SIGNAL recognition particle receptor, *MEDICAL sciences, *AGE of onset

المؤلفون: Tian, Sheng¹ (AUTHOR), Sun, Huan¹ (AUTHOR), Gao, Fen-Fang¹ (AUTHOR), Zhang, Kang¹ (AUTHOR), Nan, Jing¹ (AUTHOR), Niu, Mu² (AUTHOR), Jia, Xiao² (AUTHOR), Xu, Gang² (AUTHOR), Ge, Wei² (AUTHOR) gw1003@163.com

المصدر: BMC Neurology. 6/17/2024, Vol. 24 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *MYASTHENIA gravis, *GENETIC mutation, *GENETIC testing, *DELETION mutation, *GENETIC variation

المؤلفون: Yıldırım, Miraç¹ (AUTHOR) miracyildirim81@hotmail.com, Yarenci, Gülçin Bilicen² (AUTHOR), Genç, Mustafa Berk³ (AUTHOR), Uçar, Çiğdem İlter¹ (AUTHOR), Bayav, Secahattin⁴ (AUTHOR), Tekin, Merve Nur⁴ (AUTHOR), Bektaş, Ömer¹ (AUTHOR), Teber, Serap¹ (AUTHOR)

المصدر: Neuropediatrics. Jun2024, Vol. 55 Issue 3, p200-204. 5p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *LITERATURE reviews, *ARTHROGRYPOSIS, *NEUROMUSCULAR diseases, *MUSCLE weakness, *MAGNETIC resonance imaging, *ICHTHYOSIS

المؤلفون: Hesami, Omid^1,2 (AUTHOR), Ramezani, Mahtab^1,3 (AUTHOR), Ghasemi, Aida¹ (AUTHOR), Fatehi, Farzad^1,3 (AUTHOR), Okhovat, Ali Asghar^1,3 (AUTHOR), Ziaadini, Bentolhoda⁴ (AUTHOR), Kariminejad, Ariana⁵ (AUTHOR), Nafissi, Shahriar^1,3 (AUTHOR) nafisi@sina.tums.ac.ir

المصدر: Orphanet Journal of Rare Diseases. 3/12/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *MEDICAL genetics, *CONGENITAL myasthenic syndromes, *GENETIC counseling, *ACTION potentials, *NEUROMUSCULAR diseases, *NEURAL stimulation

المؤلفون: Zhang, Zhiping¹ (AUTHOR), Zhang, Xueluo¹ (AUTHOR), Xue, Huiqin¹ (AUTHOR), Chu, Liming² (AUTHOR), Hu, Lina² (AUTHOR), Bi, Xingyu¹ (AUTHOR), Zhu, Pengfei¹ (AUTHOR), Zhang, Dongdong¹ (AUTHOR), Chen, Jiayao¹ (AUTHOR), Cui, Xiangrong¹ (AUTHOR), Kong, Lingyin² (AUTHOR), Liang, Bo³ (AUTHOR), Wu, Xueqing¹ (AUTHOR) xueqingwu416@126.com

المصدر: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-13. 13p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *GENETIC testing, *NEUROMUSCULAR diseases, *REPRODUCTIVE technology, *NEUROMUSCULAR transmission, *CHILDBIRTH

المؤلفون: Pugliese, Alessia^1,2 (AUTHOR), Della Marina, Adela³ (AUTHOR), de Paula Estephan, Eduardo^4,5 (AUTHOR), Zanoteli, Edmar⁴ (AUTHOR), Roos, Andreas^2,3,6,7 (AUTHOR), Schara-Schmidt, Ulrike³ (AUTHOR), Hentschel, Andreas⁷ (AUTHOR), Azuma, Yoshiteru⁸ (AUTHOR), Töpf, Ana⁹ (AUTHOR), Thompson, Rachel² (AUTHOR), Polavarapu, Kiran² (AUTHOR), Lochmüller, Hanns^{2,10,11,12,13} (AUTHOR) hlochmuller@toh.ca

المصدر: Journal of Neurology. Mar2024, Vol. 271 Issue 3, p1331-1341. 11p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *NOONAN syndrome, *MUSCLE weakness, *GENETIC disorders, *MYONEURAL junction, *INTELLECTUAL disabilities

المؤلفون: vanden Brande, Laura^1,2 (AUTHOR), Bauché, Stéphanie^1,3 (AUTHOR), Pérez‐Guàrdia, Laura⁴ (AUTHOR), Sternberg, Damien⁵ (AUTHOR), Seferian, Andreea M.² (AUTHOR), Malfatti, Edoardo^1,6 (AUTHOR), Silva‐Rojas, Roberto⁴ (AUTHOR), Labasse, Clémence¹ (AUTHOR), Chevessier, Frédéric¹ (AUTHOR), Carlier, Pierre¹ (AUTHOR), Eymard, Bruno^1,6 (AUTHOR), Romero, Norma B.¹ (AUTHOR), Laporte, Jocelyn⁴ (AUTHOR), Servais, Laurent^7,8 (AUTHOR), Gidaro, Teresa^1,2 (AUTHOR), Böhm, Johann⁴ (AUTHOR) johann@igbmc.fr

المصدر: Neuropathology & Applied Neurobiology. Feb2024, Vol. 50 Issue 1, p1-13. 13p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *CALCIUM channels, *RYANODINE receptors, *MUSCLE weakness, *POST-translational modification, *NEUROMUSCULAR transmission, *CHOLINERGIC receptors, *HYBRID rice

المؤلفون: Lin, Cameron V.¹ (AUTHOR), Thomas, Clementine A.D.¹ (AUTHOR), Huynh, Thanh L.¹ (AUTHOR), Wei, David T.¹ (AUTHOR), Young, Jaime N.¹ (AUTHOR), Aivazian, Anahid S.¹ (AUTHOR), McInnes, Abigail¹ (AUTHOR), Xu, Jixiang¹ (AUTHOR), Cook, Sarah E.² (AUTHOR), Vazquez, Jessica¹ (AUTHOR), Maselli, Ricardo A.¹ (AUTHOR) ramaselli@ucdavis.edu

المصدر: Human Gene Therapy. Feb2024, Vol. 35 Issue 3/4, p123-131. 9p.

مصطلحات موضوعية: *ADENO-associated virus, *CONGENITAL myasthenic syndromes, *GENE therapy, *CHOLINE, *MICE, *HEART, *VIRAL antibodies

المؤلفون: Polavarapu, Kiran^1,2 (AUTHOR), Sunitha, Balaraju^3,4,5 (AUTHOR), Töpf, Ana³ (AUTHOR), Preethish-Kumar, Veeramani^1,6 (AUTHOR), Thompson, Rachel² (AUTHOR), Vengalil, Seena¹ (AUTHOR), Nashi, Saraswati¹ (AUTHOR), Bardhan, Mainak¹ (AUTHOR), Sanka, Sai Bhargava¹ (AUTHOR), Huddar, Akshata^1,7 (AUTHOR), Unnikrishnan, Gopikrishnan^1,8 (AUTHOR), Arunachal, Gautham⁹ (AUTHOR), Girija, Manu Santhappan¹ (AUTHOR), Porter, Anna³ (AUTHOR), Azuma, Yoshiteru³ (AUTHOR), Lorenzoni, Paulo José¹⁰ (AUTHOR), Baskar, Dipti¹ (AUTHOR), Anjanappa, Ram Murthy¹ (AUTHOR), Keertipriya, Madassu¹ (AUTHOR), Padmanabh, Hansashree¹ (AUTHOR)

المصدر: Brain: A Journal of Neurology. Jan2024, Vol. 147 Issue 1, p281-296. 16p.

مصطلحات موضوعية: *CONGENITAL myasthenic syndromes, *ADRENERGIC agonists, *MYONEURAL junction, *GENETIC testing, *BASAL lamina, *FACIOSCAPULOHUMERAL muscular dystrophy

مصطلحات جغرافية: SOUTH Asia, INDIA

المؤلفون: Rathore, Geetanjali¹ (AUTHOR), Kang, Peter B.^1,2,3 (AUTHOR) pkang@umn.edu

المصدر: Pediatric Neurology. Dec2023, Vol. 149, p1-14. 14p.

مصطلحات موضوعية: *NEUROMUSCULAR diseases, *CONGENITAL myasthenic syndromes, *SYMPTOMS, *PERIPHERAL nervous system, *MEDICAL research, *CONGENITAL hypothyroidism