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Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.

• Authors : Zhang, Zhiping¹ (AUTHOR); Zhang, Xueluo¹ (AUTHOR); Xue, Huiqin¹ (AUTHOR)

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

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Acute onset of Lambert Eaton myasthenic syndrome in prostate adenocarcinoma: a case report.

• Authors : Drăghici, Nicu Cătălin^1,2,3 ; Olariu, Elena⁴; Lupescu, Tudor Dimitrie^1,3

Subjects: *CALCIUM channels; *PROSTATE; *NEUROMUSCULAR diseases

• Source: Medicine & Pharmacy Reports: Clujul Medical. 2024, Vol. 97 Issue 1, p95-98. 4p.

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

• Authors : Hesami, Omid^1,2 (AUTHOR); Ramezani, Mahtab^1,3 (AUTHOR); Ghasemi, Aida¹ (AUTHOR)

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

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Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.

• Authors : O'Connor, Kaela^1,2,3 (AUTHOR); Spendiff, Sally¹ (AUTHOR); Lochmüller, Hanns^1,4,5,6,7 (AUTHOR)

Subjects: *CONGENITAL myasthenic syndromes; *NEUROMUSCULAR transmission; *MITOCHONDRIA

• Source: International Journal of Molecular Sciences. May2023, Vol. 24 Issue 10, p8505. 20p.

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New calcium channel agonists as potential therapeutics in Lambert-Eaton myasthenic syndrome and other neuromuscular diseases.

• Authors : Tarr TB; Department of Neuroscience, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Valdomir G

Subjects: Calcium Channel Agonists/Calcium Channel Agonists/Calcium Channel Agonists/*therapeutic use ; Lambert-Eaton Myasthenic Syndrome/Lambert-Eaton Myasthenic Syndrome/Lambert-Eaton Myasthenic Syndrome/*drug therapy ; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*drug therapy

• Source: Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 2012 Dec; Vol. 1275, pp. 85-91.Publisher: New York Academy of Sciences Country of Publication: United States NLM ID: 7506858 Publication Model: Print Cited Medium: Internet ISSN:

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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.

• Authors : Barbeau, Susie¹ (AUTHOR); Semprez, Fannie¹ (AUTHOR); Dobbertin, Alexandre¹ (AUTHOR)

Subjects: *CONGENITAL myasthenic syndromes; *MUSCLE weakness; *CHOLINERGIC receptors

• Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16217. 16p.

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Neuromuscular Active Zone Structure and Function in Healthy and Lambert-Eaton Myasthenic Syndrome States.

• Authors : Ginebaugh, Scott P.¹ (AUTHOR) ; Badawi, Yomna¹ (AUTHOR); Tarr, Tyler B.¹ (AUTHOR)

• Source: Biomolecules (2218-273X). Jun2022, Vol. 12 Issue 6, p740-740. 11p.

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

• Authors : Ma, Yanyan¹ (AUTHOR); Xiong, Ting¹ (AUTHOR); Lei, Guohua² (AUTHOR)

• Source: Neurological Sciences. Aug2021, Vol. 42 Issue 8, p3485-3490. 6p. 3 Color Photographs, 1 Diagram, 1 Chart.

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Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management.

• Authors : Evoli, A.¹ ; Liguori, R.²; Romani, A.³

• Source: Neurological Sciences. Apr2014, Vol. 35 Issue 4, p515-520. 6p.

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Miastenija ir Lambert-Eaton miasteninis sindromas, jų gydymo rekomendacijos ir ypatumai COVID-19 pandemijos metu.

• Authors : Klimašauskienė, A.¹ ; Bunevičiūtė, R.²

• Source: Neurologijos Seminarai. 2020, Vol. 24 Issue 2, p138-144. 7p.

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