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Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

• Authors : Janßen, Sören¹ (AUTHOR) ; Erbe, Leoni S.² (AUTHOR) ; Kneifel, Moritz³ (AUTHOR)

Subjects: *WHOLE genome sequencing; *GENETIC variation; *RYANODINE receptors

• Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10867. 15p.

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Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin

• Authors : Charles Redwood; Nikita A. Rysev; Olga E. Karpicheva

Subjects: 0301 basic medicine; disease-causing mutations; macromolecular substances

• Source: International Journal of Molecular Sciences, Vol 21, Iss 7590, p 7590 (2020)International Journal of Molecular SciencesVolume

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Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln

• Authors : Olga E, Karpicheva; Armen O, Simonyan; Nikita A, Rysev

Subjects: Myotonia Congenita; disease-causing mutations; macromolecular substances

• Source: International Journal of Molecular Sciences

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Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln 147 Pro Tropomyosin.

• Authors : Karpicheva OE; Institute of Cytology, Russian Academy of Sciences, 4 Tikhoretsky Av., 194064 St. Petersburg, Russia.; Simonyan AO

Subjects: Amino Acid Substitution* ; Muscle Contraction*; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2020 Oct 14; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.

• Authors : Karpicheva, Olga E.¹ (AUTHOR) ; Simonyan, Armen O.^1,2 (AUTHOR) ; Rysev, Nikita A.¹ (AUTHOR)

Subjects: *TROPOMYOSINS; *MICROFILAMENT proteins; *MUSCLE diseases

• Source: International Journal of Molecular Sciences. Oct2020, Vol. 21 Issue 20, p7590-7590. 1p.

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

• Authors : Chausova, Polina¹ (AUTHOR) ; Murtazina, Aysylu¹ (AUTHOR); Stepanova, Anna¹ (AUTHOR)

Subjects: *MUSCLE diseases; *GENETIC variation; *WOMEN patients

• Source: International Journal of Molecular Sciences. May2023, Vol. 24 Issue 9, p8409. 10p.

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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

• Authors : Gurgel-Giannetti, Juliana¹ (AUTHOR); Souza, Lucas Santos² (AUTHOR); Yamamoto, Guilherme L.² (AUTHOR)

Subjects: *NEMALINE myopathy; *PATIENTS' families; *NUCLEOTIDE sequencing

• Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11995. 20p.

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Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.

• Authors : Karpicheva, Olga E.¹ (AUTHOR); Avrova, Stanislava V.¹ (AUTHOR); Bogdanov, Andrey L.¹ (AUTHOR)

Subjects: *MYOSIN; *NEMALINE myopathy; *MUSCLE weakness

• Source: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5829. 24p.

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Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

• Authors : Perrin, Aurélien^1,2 (AUTHOR) ; Garcia-Uzquiano, Rocio³ (AUTHOR) ; Stojkovic, Tanya⁴ (AUTHOR)

• Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12994. 15p.

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Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents

• Authors : Olga E. Karpicheva; Stanislava V. Avrova; Andrey L. Bogdanov

Subjects: Inorganic Chemistry; Organic Chemistry; General Medicine

• Source: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5829

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