Cargando…

Congenital myasthenic syndromes

OBJECTIVES: Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission. Since the field of CMSs is steadily expanding, the present review aimed at summarizing and discussing...

Descripción completa

Detalles Bibliográficos
Autor principal:	Finsterer, Josef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390566/ https://www.ncbi.nlm.nih.gov/pubmed/30808424 http://dx.doi.org/10.1186/s13023-019-1025-5

Ejemplares similares

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2018)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
por: Liao, Xufeng, et al.
Publicado: (2023)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
por: Finlayson, Sarah, et al.
Publicado: (2016)

Congenital Myasthenic Syndrome in a Mixed Breed Dog
por: Blakey, Theresa J., et al.
Publicado: (2017)

Congenital myasthenic syndrome in China: genetic and myopathological characterization
por: Zhao, Yawen, et al.
Publicado: (2021)

NMJ-related diseases beyond the congenital myasthenic syndromes
por: Navarro-Martínez, Alejandra, et al.
Publicado: (2023)

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
por: Pugliese, Alessia, et al.
Publicado: (2023)

Congenital myasthenic syndromes: Natural history and long-term prognosis
por: Jagtap, Sujit Abajirao, et al.
Publicado: (2013)

Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats
por: Mignan, Thomas, et al.
Publicado: (2020)

Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?
por: Kaya, Oğuz, et al.
Publicado: (2023)

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
por: Shao, Shuai, et al.
Publicado: (2023)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
por: Nicole, Sophie, et al.
Publicado: (2017)

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
por: O’Connor, Kaela, et al.
Publicado: (2023)

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
por: Thompson, Rachel, et al.
Publicado: (2019)

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
por: Ohno, Kinji, et al.
Publicado: (2023)

Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants
por: Khan, Arif, et al.
Publicado: (2011)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
por: Cossins, Judith, et al.
Publicado: (2013)

Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients
por: Pavone, Piero, et al.
Publicado: (2013)

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome
por: Shen, Xin‐Ming, et al.
Publicado: (2017)

Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation
por: Zhang, Yixia, et al.
Publicado: (2020)

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
por: Muñoz-García, Mariana I., et al.
Publicado: (2023)

Onset of Takotsubo 7 days after myasthenic crisis suggests an alternative trigger
por: Finsterer, Josef, et al.
Publicado: (2022)

Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes
por: Webster, Richard G.
Publicado: (2018)

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
por: Vanhaesebrouck, An E., et al.
Publicado: (2019)

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation
por: Tsai, Kate L., et al.
Publicado: (2019)

High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays
por: Denning, Lisa, et al.
Publicado: (2007)

A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome
por: Rinz, Caitlin J., et al.
Publicado: (2014)

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
por: Xi, Jianying, et al.
Publicado: (2017)

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018)

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
por: O’Connor, Emily, et al.
Publicado: (2016)

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
por: Salpietro, Vincenzo, et al.
Publicado: (2017)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
por: Szelinger, Szabolcs, et al.
Publicado: (2020)

Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome
por: Bonanno, Silvia, et al.
Publicado: (2021)

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
por: Jacquier, Arnaud, et al.
Publicado: (2022)

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis
por: Lorenzoni, Paulo José, et al.
Publicado: (2021)

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
por: Krenn, Martin, et al.
Publicado: (2022)

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue
por: Horibe, Takuya, et al.
Publicado: (2023)

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers
por: Mohammadi, Mohammad Farid, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_8c3tnor4g3t033emrutbhkak2f