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KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: molenaar jp. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB, Bouman K, Molenaar JPF, de Winter JM, Duijkers FAM, Eftimov F, Verschuuren-Bemelmans CC, van der Laan T, Küsters B, Malfatti E, Kamsteeg EJ, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: molenaar jpf. J Neuromuscul Dis. 2024 Sep 4. doi: 10.3233/JND-230196. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 39240645
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: molenaar jpf. Neurol Genet. 2024 Dec 5;10(6):e200214. doi: 10.1212/NXG.0000000000200214. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39651462 Free PMC article.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. Brain. 2020. PMID: 32040565 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: molenaar jp. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. Sánchez-Caballero L, et al. Among authors: molenaar jp. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374773 Free PMC article.
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