Works matching DE "CONGENITAL myasthenic syndromes"

Results: 186

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Published in:

Molecular Medicine, 2019, v. 26, n. 1, p. 1, doi. 10.1186/s10020-019-0129-7

By:

Milhem, Reham M.;
Ali, Bassam R.

Publication type:

Article

Neuromuscular Diseases, Genetic Etiology and Next Generation Sequence Analysis.

Published in:

Gazi Medical Journal, 2024, v. 35, p. 38

By:

Somuncu, Makbule Nihan;
Göktaş, Emine;
Zamani, Ayşe Gül;
Yıldırım, Mahmut Selman

Publication type:

Article

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRN.

Published in:

Scientific Reports, 2013, p. 1, doi. 10.1038/srep02931

By:

Mohammad Alinoor Rahman;
Akio Masuda;
Kenji Ohe;
Mikako Ito;
Hutchinson, David O.;
Akila Mayeda;
Engel, Andrew G.;
Kinji Ohno

Publication type:

Article

Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.926786

By:

Ran An;
Huijiao Chen;
Song Lei;
Yi Li;
Yanming Xu;
Chengqi He

Publication type:

Article

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.909715

By:

Gómez-García de la Banda, Marta;
Simental-Aldaba, Emmanuel;
Fahmy, Nagia;
Sternberg, Damien;
Blondy, Patricia;
Quijano-Roy, Susana;
Malfatti, Edoardo

Publication type:

Article

Unusual presentation of uncommon cause of ptosis.

Published in:

Journal of Paediatrics & Child Health, 2023, v. 59, n. 3, p. 560, doi. 10.1111/jpc.16321

By:

Jain, Reena;
Aulakh, Roosy;
Banga, Akshay

Publication type:

Article

Advances in the diagnosis and treatment of congenital myasthenic syndrome.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 6, p. 672, doi. 10.7499/j.issn.1008-8830.1912095

By:

XIAO Ting;
WU Li-Wen

Publication type:

Article

Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.

Published in:

Acta Paediatrica, 2023, v. 112, n. 11, p. 2434, doi. 10.1111/apa.16945

By:

Orriëns, Lynn B.;
Eker, Dilan;
Braakman, Hilde M. H.;
Merkus, Peter J. F. M.;
Erasmus, Corrie E.

Publication type:

Article

Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.

Published in:

Acta Paediatrica, 2023, v. 112, n. 5, p. 1091, doi. 10.1111/apa.16688

By:

van den Udenhout, Fleur;
Merkus, Peter;
Verhaagen‐van den Akker, Sandra;
Schouten, Meyke;
Erasmus, Corrie;
Braakman, Hilde

Publication type:

Article

Congenital myasthenic syndromes.

Published in:

2019

By:

Finsterer, Josef

Publication type:

journal article

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Published in:

2018

By:

Thompson, Rachel;
Abicht, Angela;
Beeson, David;
Engel, Andrew G.;
Eymard, Bruno;
Maxime, Emmanuel;
Lochmüller, Hanns

Publication type:

journal article

DOK7 congenital myasthenic syndrome responsive to oral salbutamol.

Published in:

QJM: An International Journal of Medicine, 2022, v. 115, n. 5, p. 323, doi. 10.1093/qjmed/hcac017

By:

Tayade, K;
Salunkhe, M;
Agarwal, A;
Radhakrishnan, D M;
Srivastava, A K

Publication type:

Article

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf046

By:

Cossins, Judith;
Kozma, Imre;
Canzonetta, Claudia;
Hawkins, Al;
Beeson, David;
Sepulveda, Patricio;
Dong, Yin Yao

Publication type:

Article

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Published in:

Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad299

By:

Poulos, Jordan;
Samuels, Martin;
Palace, Jacqueline;
Beeson, David;
Robb, Stephanie;
Ramdas, Sithara;
Chan, Samantha;
Munot, Pinki

Publication type:

Article

Different Aspects of Congenital Myasthenic Syndromes in Childhood.

Published in:

Southern Clinics of Istanbul Eurasia, 2022, v. 33, n. 3, p. 253, doi. 10.14744/scie.2022.48285

By:

Aslan, Mahmut;
Kırık, Serkan

Publication type:

Article

Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report.

Published in:

SAGE Open Medical Case Reports, 2023, p. 1, doi. 10.1177/2050313X231211047

By:

Mukhtiar, Khairunnisa;
Raza, Mohammad;
Tejani, Isbaah;
Ali, Farhan;
Ibrahim, Shahnaz

Publication type:

Article

Congenital myasthenic syndromes: A study of 15 cases.

Published in:

Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 127, doi. 10.1111/ncn3.12700

By:

Khadilkar, Satish V.;
Oza, Harsh;
Dhonde, Pramod;
Patel, Bhagyadhan;
Singla, Madhu bala;
Patel, Riddhi;
Dastur, Rashna;
Gaitode, Pradnya;
Halani, Hiral;
Mansukhani, Khushnuma;
Dhonde, Mayura

Publication type:

Article

Late presented congenital myasthenic syndrome with novel compound heterozygous CHRNE mutations mimicking seronegative myasthenia gravis.

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 288, doi. 10.1111/ncn3.12317

By:

Nakano, Yumiko;
Tsunoda, Keiichiro;
Yamashita, Toru;
Mitsui, Jun;
Sato, Kota;
Takemoto, Mami;
Hishikawa, Nozomi;
Ohta, Yasuyuki;
Toda, Tatsushi;
Tsuji, Shoji;
Abe, Koji

Publication type:

Article

GENETIC MODEL OF CONGENITAL MYASTHENIC SYNDROME DOES NOT AFFECT ESTROUS CYCLE OF FEMALE MICE.

Published in:

Evidência, 2022, v. 22, n. 2, p. 411

By:

PASSOS, Laura G. A.;
PESSOA, Pedro W. M.;
ZANETTI, Gustavo;
BATISTA, Carolina;
MANTOVANI, Henrique;
MARQUES, Gabriel S.;
GOMES, Matheus P. S. M.;
WANNER, Samuel P.;
SOARES, Danusa;
GUATIMOSIM, Cristina;
GONÇALVES, Dawit A. P.

Publication type:

Article

CONGENITAL MYASTHENIA CAUSES A CHRONIC IMPAIRMENT OF AEROBIC AND STRENGTH PERFORMANCE AND EXERCISE-INDUCED HYPERGLYCEMIA IN FEMALE MICE.

Published in:

Evidência, 2022, v. 22, n. 2, p. 333

By:

PESSOA, Pedro W. M.;
ZANETTI, Gustavo;
PASSOS, Laura G. A.;
SIMÕES, Carolina Batista;
MANTOVANI, Henrique;
MARQUES, Gabriel;
MAGALHÃES-GOMES, Matheus P. S.;
WANNER, Samuel P.;
SOARES, Danusa;
GUATIMOSIM, Cristina;
GONÇALVES, Dawit A. P.

Publication type:

Article

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.

Published in:

2023

By:

Mohammadi, Mohammad Farid;
Fateh, Sahand Tehrani;
Aghajani, Hadi;
Bahramy, Afshin;
Zaheryani, Seyed Mohammad Salar;
Behroozi, Javad;
Kahani, Seyyed Mohammad;
Mohammadi, Pouria;
Garshasbi, Masoud

Publication type:

Case Study

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 732, doi. 10.1002/acn3.51756

By:

Shen, Xin‐Ming;
Nakata, Tomohiko;
Mizuno, Seiji;
Imoto, Issei;
Selcen, Duygu;
Ohno, Kinji;
Engel, Andrew G.

Publication type:

Article

Congenital myasthenic syndrome in China: genetic and myopathological characterization.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 898, doi. 10.1002/acn3.51346

By:

Zhao, Yawen;
Li, Ying;
Bian, Yang;
Yao, Sheng;
Liu, Penju;
Yu, Meng;
Zhang, Wei;
Wang, Zhaoxia;
Yuan, Yun

Publication type:

Article

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 2066, doi. 10.1002/acn3.50902

By:

Shen, Xin‐Ming;
Milone, Margherita;
Wang, Hang‐Long;
Banwell, Brenda;
Selcen, Duygu;
Sine, Steven M.;
Engel, Andrew G.

Publication type:

Article

Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1062, doi. 10.1002/acn3.787

By:

Tian, Wo‐Tu;
Zhou, Hai‐Yan;
Zhan, Fei‐Xia;
Zhu, Ze‐Yu;
Yang, Jie;
Chen, Sheng‐Di;
Luan, Xing‐Hua;
Cao, Li

Publication type:

Article

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 2, p. 130, doi. 10.1002/acn3.387

By:

Shen, Xin‐Ming;
Scola, Rosana H.;
Lorenzoni, Paulo J.;
Kay, Cláudia S. K.;
Werneck, Lineu C.;
Brengman, Joan;
Selcen, Duygu;
Engel, Andrew G.

Publication type:

Article

ARGX-119 is an agonist antibody for human MuSK that reverses disease relapse in a mouse model of congenital myasthenic syndrome.

Published in:

Science Translational Medicine, 2024, v. 16, n. 765, p. 1, doi. 10.1126/scitranslmed.ado7189

By:

Vanhauwaert, Roeland;
Oury, Julien;
Vankerckhoven, Bernhardt;
Steyaert, Christophe;
Jensen, Stine Marie;
Vergoossen, Dana L. E.;
Kneip, Christa;
Santana, Leah;
Lim, Jamie L.;
Plomp, Jaap J.;
Augustinus, Roy;
Koide, Shohei;
Blanchetot, Christophe;
Ulrichts, Peter;
Huijbers, Maartje G.;
Silence, Karen;
Burden, Steven J.

Publication type:

Article

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184817

By:

Shields, Mallory C.;
Bowers, Matthew R.;
Fulcer, McKenzie M.;
Bollig, Madelyn K.;
Rock, Patrick J.;
Sutton, Bryan R.;
Vrailas-Mortimer, Alysia D.;
Lochmüller, Hanns;
Whittaker, Roger G.;
Horvath, Rita;
Reist, Noreen E.

Publication type:

Article

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

Published in:

2024

By:

Muntadas, Javier A;
Hyland, Martin R;
Martínez, Maria Del Rosario Ortolá;
Young, Jaime N;
Chong, Jessica X;
Bamshad, Michael J;
Maselli, Ricardo A.

Publication type:

Case Study

LRP4 Is Critical for Neuromuscular Junction Maintenance.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 42, p. 13892, doi. 10.1523/JNEUROSCI.1733-14.2014

By:

Barik, Arnab;
Yisheng Lu;
Sathyamurthy, Anupama;
Bowman, Andrew;
Chengyong Shen;
Lei Li;
Wen-cheng Xiong;
Lin Mei

Publication type:

Article

A Single Mutation in the Acetylcholine Receptor Subunit Causes Distinct Effects in Two Types of Neuromuscular Synapses.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 31, p. 10211, doi. 10.1523/JNEUROSCI.0426-14.2014

By:

Jee-Young Park;
Mott, Meghan;
Williams, Tory;
Ikeda, Hiromi;
Hua Wen;
Linhoff, Michael;
Ono, Fumihito

Publication type:

Article

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

Published in:

2017

By:

Bevilacqua, Jorge A.;
Lara, Marian;
Díaz, Jorge;
Campero, Mario;
Vázquez, Jessica;
Maselli, Ricardo A.

Publication type:

Case Study

Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.

Published in:

Canadian Journal of Neurological Sciences, 2024, v. 51, n. 4, p. 595, doi. 10.1017/cjn.2023.277

By:

Jewett, Gordon;
Beland, Benjamin;
Khayambashi, Shahin;
Silverstein, Sarah;
Donkervoort, Sandra;
Bönnemann, Carsten G.;
Pfeffer, Gerald;
Chhibber, Sameer

Publication type:

Article

P.044 GMPPB mutation causes a muscular dystrophy-myasthenic spectrum.

Published in:

2022

By:

Beland, B;
Jewett, G;
Khayambashi, S;
Chhibber, S

Publication type:

Abstract

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Published in:

2017

By:

Abath Neto, Osorio;
Heise, Carlos Otto;
Moreno, Cristiane de Araújo Martins;
Estephan, Eduardo de Paula;
Mesrob, Lilia;
Lechner, Doris;
Boland, Anne;
Deleuze, Jean-François;
Oliveira, Acary Souza Bulle;
Reed, Umbertina Conti;
Biancalana, Valérie;
Laporte, Jocelyn;
Zanoteli, Edmar

Publication type:

Case Study

The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09653-4

By:

Kemppainen, A. V.;
Finnilä, M. A.;
Heikkinen, A.;
Härönen, H.;
Izzi, V.;
Kauppinen, S.;
Saarakkala, S.;
Pihlajaniemi, T.;
Koivunen, J.

Publication type:

Article

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00198

By:

Yang, Qi;
Hua, Rong;
Qian, Jiale;
Yi, Shang;
Shen, Fei;
Zhang, Qiang;
Li, Mengting;
Yi, Sheng;
Luo, Jingsi;
Fan, Xin

Publication type:

Article

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field.

Published in:

2020

By:

Maggi, Lorenzo;
Matthews, Emma;
Desaphy, Jean-François

Publication type:

Editorial

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646

By:

Maggi, Lorenzo;
Brugnoni, Raffaella;
Canioni, Eleonora;
Tonin, Paola;
Saletti, Veronica;
Sola, Patrizia;
Piccinelli, Stefano Cotti;
Colleoni, Lara;
Ferrigno, Paola;
Pini, Antonella;
Masson, Riccardo;
Manganelli, Fiore;
Lietti, Daniele;
Vercelli, Liliana;
Ricci, Giulia;
Bruno, Claudio;
Tasca, Giorgio;
Pizzuti, Antonio;
Padovani, Alessandro;
Fusco, Carlo

Publication type:

Article

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Published in:

Genes, 2023, v. 14, n. 2, p. 372, doi. 10.3390/genes14020372

By:

Chompoopong, Pitcha;
Milone, Margherita

Publication type:

Article

Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".

Published in:

2021

By:

Arechavala-Gomeza, Virginia;
Gonzalez-Quereda, Lidia

Publication type:

Editorial

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Published in:

Genes, 2020, v. 11, n. 12, p. 1519, doi. 10.3390/genes11121519

By:

Laforgia, Nicola;
De Cosmo, Lucrezia;
Palumbo, Orazio;
Ranieri, Carlotta;
Sesta, Michela;
Capodiferro, Donatella;
Pantaleo, Antonino;
Iapicca, Pierluigi;
Lastella, Patrizia;
Capozza, Manuela;
Schettini, Federico;
Bukvic, Nenad;
Bagnulo, Rosanna;
Resta, Nicoletta

Publication type:

Article

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Published in:

Genes, 2020, v. 11, n. 5, p. 539, doi. 10.3390/genes11050539

By:

Gonzalez-Quereda, Lidia;
Rodriguez, Maria Jose;
Diaz-Manera, Jordi;
Alonso-Perez, Jorge;
Gallardo, Eduard;
Nascimento, Andres;
Ortez, Carlos;
Natera-de Benito, Daniel;
Olive, Montse;
Gonzalez-Mera, Laura;
Lopez de Munain, Adolfo;
Zulaica, Miren;
Poza, Juan Jose;
Jerico, Ivonne;
Torne, Laura;
Riera, Pau;
Milisenda, Jose;
Sanchez, Aurora;
Garrabou, Gloria;
Llano, Isabel

Publication type:

Article

Pathophysiology of Childhood-Onset Myasthenia: Abnormalities of Neuromuscular Junction and Autoimmunity and Its Background.

Published in:

Pathophysiology, 2023, v. 30, n. 4, p. 599, doi. 10.3390/pathophysiology30040043

By:

Hayashi, Masatoshi

Publication type:

Article

DOK7 congenital myasthenic syndrome: case series and review of literature.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03713-0

By:

Ziaadini, Bentolhoda;
Ghaderi Yazdi, Bardyia;
Dirandeh, Elham;
Boostani, Reza;
Karimi, Narges;
Panahi, Akram;
Kariminejad, Ariana;
Fadaee, Mahsa;
Ahangari, Fatemeh;
Nafissi, Shahriar

Publication type:

Article

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03716-x

By:

Tian, Sheng;
Sun, Huan;
Gao, Fen-Fang;
Zhang, Kang;
Nan, Jing;
Niu, Mu;
Jia, Xiao;
Xu, Gang;
Ge, Wei

Publication type:

Article

Kongenitální myastenické syndromy: vzácná, ale léčitelná onemocnění.

Published in:

Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 46

By:

Adamovičová, Miriam;
Zídková, Jana

Publication type:

Article

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Published in:

2019

By:

Maggi, Lorenzo;
Bernasconi, Pia;
D'Amico, Adele;
Brugnoni, Raffaella;
Fiorillo, Chiara;
Garibaldi, Matteo;
Astrea, Guja;
Bruno, Claudio;
Santorelli, Filippo Maria;
Liguori, Rocco;
Antonini, Giovanni;
Evoli, Amelia;
Bertini, Enrico;
Rodolico, Carmelo;
Mantegazza, Renato

Publication type:

journal article

Clinical and genetic characterization of an Italian family with slow-channel syndrome.

Published in:

2019

By:

Angelini, Corrado;
Lispi, Ludovico;
Salvoro, Cecilia;
Mostacciuolo, Maria Luisa;
Vazza, Giovanni

Publication type:

journal article

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.

Published in:

Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00259

By:

Liu, Zhimei;
Zhang, Li;
Shen, Danmin;
Ding, Changhong;
Yang, Xinying;
Zhang, Weihua;
Li, Jiuwei;
Deng, Jie;
Gong, Shuai;
Liu, Jun;
Qian, Suyun;
Fang, Fang

Publication type:

Article