Works about CONGENITAL myasthenic syndromes

Results: 186

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3308, doi. 10.3390/jcm12093308

By:

Muñoz-García, Mariana I.;
Guerrero-Molina, María Paz;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
Bermejo-Guerrero, Laura;
Arteche-López, Ana;
Hernández-Laín, Aurelio;
Martín, Miguel A.;
Domínguez-González, Cristina

Publication type:

Article

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3724, doi. 10.3390/jcm9113724

By:

Kim, Min-Jee;
Yum, Mi-Sun;
Seo, Go Hun;
Lee, Yena;
Jang, Han Na;
Ko, Tae-Sung;
Lee, Beom Hee

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

Independent CHRNE mutations at serine 503 in English Springer Spaniels and a Smooth Fox Terrier having congenital myasthenic syndrome.

Published in:

Animal Genetics, 2024, v. 55, n. 4, p. 702, doi. 10.1111/age.13456

By:

Peterson, Erin;
Rudolph, Tori E.;
Starr‐Moss, Alison;
Anderson, Kendall;
Lennon, Vanda A.;
Shelton, G. Diane;
Clark, Leigh Anne

Publication type:

Article

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.

Published in:

Animal Genetics, 2015, v. 46, n. 6, p. 711, doi. 10.1111/age.12350

By:

Gandolfi, Barbara;
Grahn, Robert A.;
Creighton, Erica K.;
Williams, D. Colette;
Dickinson, Peter J.;
Sturges, Beverly K.;
Guo, Ling T.;
Shelton, G. Diane;
Leegwater, Peter A. J.;
Longeri, Maria;
Malik, Richard;
Lyons, Leslie A.

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

Congenital nystagmus and central hypothyroidism.

Published in:

International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0003-5

By:

Reynaert, Nele;
Braat, Elke;
de Zegher, Francis

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

Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.

Published in:

Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk

By:

Sanka, Sai Bhargava;
Vengalil, Seena;
Polavarapu, Kiran;
Baskar, Dipti;
Nashi, Saraswati;
Thomas, Aneesha;
Boddu, Vijay Kumar;
Menon, Deepak;
Padmanabha, Hansashree;
Rao, Bhoomika M.;
Arunachal, Gautham;
Nalini, Atchayaram

Publication type:

Article

Neuromuscular diseases in the pediatric intensive care unit: 11 years of experience from a tertiary children's hospital.

Published in:

Neurology Asia, 2022, v. 27, n. 2, p. 327, doi. 10.54029/2022nea

By:

SARIKAYA UZAN, Gamze;
EDEM, Pınar;
BESCI, Tolga;
PAKETÇI, Cem;
EVREN, Gültaç;
KURUL, Semra HIZ;
DUMAN, Murat;
YIŞ, Uluç

Publication type:

Article

A novel mutation of the COLQ gene causes congenital myasthenic syndromes: A case report.

Published in:

Neurology Asia, 2021, v. 26, n. 4, p. 845, doi. 10.54029/2021mue

By:

Shiyi Yang;
Jing Luo;
Fei Xiao

Publication type:

Article

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.

Published in:

2021

By:

Hentschel, Andreas;
Czech, Artur;
Münchberg, Ute;
Freier, Erik;
Schara-Schmidt, Ulrike;
Sickmann, Albert;
Reimann, Jens;
Roos, Andreas

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

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

Myasthenia in Children.

Published in:

Developmental Medicine & Child Neurology, 2020, v. 62, n. 8, p. 999, doi. 10.1111/dmcn.14516

By:

Robinson, Richard

Publication type:

Article

Correction to: Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.

Published in:

2024

By:

Tezen, Didem;
Khojakulov, Zakhiriddin;
Gündüz, Ayşegül;
Deymeer, Feza;
Demirbilek, Veysi;
Başak, Ayşe Nazlı

Publication type:

Correction Notice

Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.

Published in:

2024

By:

Tezen, Didem;
Khojakulov, Zakhiriddin;
Gündüz, Ayşegül;
Deymeer, Feza;
Demirbilek, Veysi;
Başak, Ayşe Nazlı

Publication type:

Letter

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.

Published in:

Neurological Sciences, 2024, v. 45, n. 7, p. 3555, doi. 10.1007/s10072-024-07420-z

By:

Ghosh, Ritwik;
Dubey, Souvik;
Roy, Dipayan;
Mayo, Sonia;
Benito-León, Julián

Publication type:

Article

Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.

Published in:

Neurological Sciences, 2021, v. 42, n. 8, p. 3485, doi. 10.1007/s10072-020-05021-0

By:

Ma, Yanyan;
Xiong, Ting;
Lei, Guohua;
Ding, Jiaqi;
Yang, Rui;
Li, Zunbo;
Guo, Jun;
Shen, Dingguo

Publication type:

Article

Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome.

Published in:

Neurological Sciences, 2021, v. 42, n. 4, p. 1253, doi. 10.1007/s10072-021-05057-w

By:

Bonanno, Silvia;
Maggi, Lorenzo

Publication type:

Article

Salbutamol as effective treatment in slow-channel syndrome- first report.

Published in:

2021

By:

Santovito, Luca Spiro;
Brugnoni, Raffaella;
Banfi, Paolo;
Maggi, Lorenzo

Publication type:

Letter

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

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Published in:

Biomedicines, 2024, v. 12, n. 11, p. 2549, doi. 10.3390/biomedicines12112549

By:

Ryan-Phillips, Finlay;
Henehan, Leighann;
Ramdas, Sithara;
Palace, Jacqueline;
Beeson, David;
Dong, Yin Yao

Publication type:

Article

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Published in:

Biomedicines, 2023, v. 11, n. 11, p. 2983, doi. 10.3390/biomedicines11112983

By:

Almatrafi, Ahmad M.;
Alluqmani, Majed M.;
Basit, Sulman

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

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Published in:

Cells (2073-4409), 2021, v. 10, n. 12, p. 3481, doi. 10.3390/cells10123481

By:

Della Marina, Adela;
Arlt, Annabelle;
Schara-Schmidt, Ulrike;
Depienne, Christel;
Gangfuß, Andrea;
Kölbel, Heike;
Sickmann, Albert;
Freier, Erik;
Kohlschmidt, Nicolai;
Hentschel, Andreas;
Weis, Joachim;
Czech, Artur;
Grüneboom, Anika;
Roos, Andreas

Publication type:

Article

RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 2850, doi. 10.3390/cells10112850

By:

Verdile, Veronica;
Guizzo, Gloria;
Ferrante, Gabriele;
Paronetto, Maria Paola

Publication type:

Article

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

Published in:

Cells (2073-4409), 2019, v. 8, n. 8, p. 848, doi. 10.3390/cells8080848

By:

O'Connor, Emily;
Cairns, George;
Spendiff, Sally;
Burns, David;
Hettwer, Stefan;
Mäder, Armin;
Müller, Juliane;
Horvath, Rita;
Slater, Clarke;
Roos, Andreas;
Lochmüller, Hanns

Publication type:

Article

The use of frontalis sling in the management of variable ptosis secondary to congenital myasthenic syndrome.

Published in:

2022

By:

Tan, Yiran;
Curragh, David S;
Selva, Dinesh

Publication type:

Case Study

Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 226, doi. 10.1111/cge.14431

By:

Tiwari, Amit K.;
Srinivasan, Varunvenkat M.;
Phadke, Shubha R.;
Saxena, Deepti

Publication type:

Article

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 666, doi. 10.1111/cge.13678

By:

Al‐Futaisi, Amna;
Ahmad, Faraz;
Al‐Kasbi, Ghalia;
Al‐Thihli, Khalid;
Koul, Roshan;
Al‐Maawali, Almundher

Publication type:

Article

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 634, doi. 10.1111/cge.13677

By:

Geremek, Maciej;
Dudarewicz, Lech;
Obersztyn, Ewa;
Paczkowska, Magdalena;
Smyk, Marta;
Sobecka, Katarzyna;
Nowakowska, Beata

Publication type:

Article

Diagnóstico y seguimiento prenatal de pacientes con onfalocele.

Published in:

Ginecología y Obstetricia de México, 2020, v. 88, n. 11, p. 756, doi. 10.24245/gom.v88i11.4177

By:

de Jesús Ortegón-López, Alonso;
Acevedo-Gallegos, Sandra;
Manuel Gallardo-Gaona, Juan;
Velÿzquez-Torres, Berenice;
Antonio Ramírez-Calvo, José;
Camarena-Cabrera, Dulce;
Copado-Mendoza, Yazmín;
Aguinaga-Ríos, Mónica

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

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03116-x

By:

Hesami, Omid;
Ramezani, Mahtab;
Ghasemi, Aida;
Fatehi, Farzad;
Okhovat, Ali Asghar;
Ziaadini, Bentolhoda;
Kariminejad, Ariana;
Nafissi, Shahriar

Publication type:

Article

ClC‐1 Cl<sup>−</sup> channels as modulators of signal transmission at neuromuscular junction.

Published in:: Acta Physiologica, 2021, v. 233, n. 2, p. 1, doi. 10.1111/apha.13718
Publication type:: Article

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

Published in:

2020

By:

Li, Wenhui;
Zhang, Min;
Zhang, Linmei;
Shi, Yiyun;
Zhao, Lei;
Wu, Bingbing;
Li, Xihua;
Zhou, Shuizhen

Publication type:

journal article

Multiscale Simulations Suggest a Mechanism for the Association of the Dok7 PH Domain with PIP-Containing Membranes.

Published in:

PLoS Computational Biology, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pcbi.1005028

By:

Buyan, Amanda;
Kalli, Antreas C.;
Sansom, Mark S. P.

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

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

Paediatric Neurology: Current Trends, Rehabilitation, and Future Challenges.

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 1, p. 77, doi. 10.3390/jpm14010077

By:

Romeo, Domenico M.;
Brogna, Claudia

Publication type:

Article

Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.

Published in:

Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798

By:

De Rose, Domenico Umberto;
Ronci, Sara;
Caoci, Stefano;
Maddaloni, Chiara;
Diodato, Daria;
Catteruccia, Michela;
Fattori, Fabiana;
Bosco, Luca;
Pro, Stefano;
Savarese, Immacolata;
Bersani, Iliana;
Randi, Franco;
Trozzi, Marilena;
Meucci, Duino;
Calzolari, Flaminia;
Salvatori, Guglielmo;
Solinas, Agostina;
Dotta, Andrea;
Campi, Francesca

Publication type:

Article

A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function.

Published in:

G3: Genes | Genomes | Genetics, 2021, v. 11, n. 4, p. 1, doi. 10.1093/g3journal/jkab047

By:

Chaya, Timothy;
Patel, Shrey;
Smith, Erin M.;
Lam, Andy;
Miller, Elaine N.;
Clupper, Michael;
Kervin, Kirsten;
Tanis, Jessica E.

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