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For: Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. Neurol Genet 2019;5:e341. [PMID: 31321302 DOI: 10.1212/NXG.0000000000000341] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
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1 Bouman K, Gubbels M, van den Heuvel FM, Groothuis JT, Erasmus CE, Nijveldt R, Udink ten Cate FE, Voermans NC. Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. Neuromuscular Disorders 2022. [DOI: 10.1016/j.nmd.2022.06.004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Pinto MJ, Passos BA, Grangeia A, Guimarães J, Braz L. Congenital myopathies in adults: A diagnosis not to overlook. Acta Neurol Scand 2022. [PMID: 35548885 DOI: 10.1111/ane.13632] [Reference Citation Analysis]
3 Zhang S, Lei L, Fan Z, Su S, Duo J, Luan Q, Lu Y, Di L, Wang M, Da Y. Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies. Front Neurol 2021;12:766942. [PMID: 34867752 DOI: 10.3389/fneur.2021.766942] [Reference Citation Analysis]
4 Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve 2021;64:255-69. [PMID: 34133031 DOI: 10.1002/mus.27337] [Reference Citation Analysis]
5 Desaphy JF, Altamura C, Vicart S, Fontaine B. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine. J Neuromuscul Dis 2021;8:357-81. [PMID: 33325393 DOI: 10.3233/JND-200582] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
6 Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, Windebank AJ, Mer G, Milone M. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. Acta Neuropathol Commun 2021;9:79. [PMID: 33926564 DOI: 10.1186/s40478-021-01168-9] [Reference Citation Analysis]
7 de Visser M. Late-onset myopathies: clinical features and diagnosis. Acta Myol 2020;39:235-44. [PMID: 33458579 DOI: 10.36185/2532-1900-027] [Reference Citation Analysis]
8 Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L; nemaline working group. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscul Disord 2020;30:866-75. [PMID: 32919842 DOI: 10.1016/j.nmd.2020.08.356] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
9 Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on Congenital Myopathies in Adulthood. Int J Mol Sci 2020;21:E3694. [PMID: 32456280 DOI: 10.3390/ijms21103694] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]