BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 2018;83:1105-24. [PMID: 29691892 DOI: 10.1002/ana.25241] [Cited by in Crossref: 49] [Cited by in F6Publishing: 45] [Article Influence: 16.3] [Reference Citation Analysis]
Number Citing Articles
1 Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021;11:701. [PMID: 33919863 DOI: 10.3390/diagnostics11040701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Kellermayer D, Smith JE 3rd, Granzier H. Titin mutations and muscle disease. Pflugers Arch 2019;471:673-82. [PMID: 30919088 DOI: 10.1007/s00424-019-02272-5] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 3.7] [Reference Citation Analysis]
3 Chardon JW, Jasmin BJ, Kothary R, Parks RJ. Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology - September 5-7, 2017, Ottawa, Canada. J Neuromuscul Dis 2018;5:539-52. [PMID: 30373960 DOI: 10.3233/JND-180353] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
4 French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, Rowitch DH, Raymond FL; NIHR BioResource—Rare Disease., Next Generation Children Project. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med 2019;45:627-36. [PMID: 30847515 DOI: 10.1007/s00134-019-05552-x] [Cited by in Crossref: 64] [Cited by in F6Publishing: 57] [Article Influence: 21.3] [Reference Citation Analysis]
5 Ávila-polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze J, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. Journal of Neuropathology & Experimental Neurology 2018;77:1101-14. [DOI: 10.1093/jnen/nly095] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 3.0] [Reference Citation Analysis]
6 Sewry CA, Laitila JM, Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil. 2019;40:111-126. [PMID: 31228046 DOI: 10.1007/s10974-019-09519-9] [Cited by in Crossref: 47] [Cited by in F6Publishing: 38] [Article Influence: 15.7] [Reference Citation Analysis]
7 Saade DN, Neuhaus SB, Foley AR, Bönnemann CG. The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics. Semin Pediatr Neurol 2019;29:44-54. [PMID: 31060725 DOI: 10.1016/j.spen.2019.01.001] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
8 Murphy S, Dowling P, Zweyer M, Swandulla D, Ohlendieck K. Proteomic profiling of giant skeletal muscle proteins. Expert Review of Proteomics 2019;16:241-56. [DOI: 10.1080/14789450.2019.1575205] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
9 Lamacie MM, Warman-Chardon J, Crean AM, Florian A, Wahbi K. The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies. J Neuromuscul Dis 2019;6:389-99. [PMID: 31561382 DOI: 10.3233/JND-190415] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Mijailovich SM, Stojanovic B, Nedic D, Svicevic M, Geeves MA, Irving TC, Granzier HL. Nebulin and titin modulate cross-bridge cycling and length-dependent calcium sensitivity. J Gen Physiol 2019;151:680-704. [PMID: 30948421 DOI: 10.1085/jgp.201812165] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 5.3] [Reference Citation Analysis]
11 Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. Novel dominant distal titinopathy phenotype associated with copy number variation. Ann Clin Transl Neurol 2021;8:1906-12. [PMID: 34312993 DOI: 10.1002/acn3.51434] [Reference Citation Analysis]
12 Yubero D, Natera-de Benito D, Pijuan J, Armstrong J, Martorell L, Fernàndez G, Maynou J, Jou C, Roldan M, Ortez C, Nascimento A, Hoenicka J, Palau F. The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. Int J Mol Sci 2021;22:4274. [PMID: 33924139 DOI: 10.3390/ijms22084274] [Reference Citation Analysis]
13 Udd B. The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop? Curr Opin Neurol 2020;33:604-10. [PMID: 32773449 DOI: 10.1097/WCO.0000000000000850] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
14 Huang S, Ma Y, Zhang Y, Xiong H, Chang X. Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report. Clin Case Rep 2021;9:e04478. [PMID: 34295493 DOI: 10.1002/ccr3.4478] [Reference Citation Analysis]
15 Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nat Rev Mol Cell Biol 2021. [PMID: 34257452 DOI: 10.1038/s41580-021-00389-z] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
16 Awotoye W, Mossey PA, Hetmanski JB, Gowans LJJ, Eshete MA, Adeyemo WL, Alade A, Zeng E, Adamson O, Naicker T, Anand D, Adeleke C, Busch T, Li M, Petrin A, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Oladayo A, Kayali S, Olotu J, Hassan M, Pape J, Donkor P, Arthur FKN, Obiri-Yeboah S, Sabbah DK, Agbenorku P, Plange-Rhule G, Oti AA, Gogal RA, Beaty TH, Taub M, Marazita ML, Schnieders MJ, Lachke SA, Adeyemo AA, Murray JC, Butali A. Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate. Sci Rep 2022;12:11743. [PMID: 35817949 DOI: 10.1038/s41598-022-15885-1] [Reference Citation Analysis]
17 Butterfield RJ. Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneap Minn) 2019;25:1640-61. [PMID: 31794464 DOI: 10.1212/CON.0000000000000792] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
18 Luo YB, Peng Y, Lu Y, Li Q, Duan H, Bi F, Yang H. Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center. Front Neurol 2020;11:1014. [PMID: 33041974 DOI: 10.3389/fneur.2020.01014] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
19 Sasaki R, Ohta Y, Tadokoro K, Matsumoto N, Nomura E, Omote Y, Takemoto M, Hishikawa N, Yamashita T, Kumutpongpanich T, Nishino I, Abe K. TTN missense variants in two siblings with asymmetric facial and limb weakness. J Neurol Sci 2020;415:116885. [PMID: 32464347 DOI: 10.1016/j.jns.2020.116885] [Reference Citation Analysis]
20 Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X, Alkuraya FS; Molecular Autopsy Consortium. Lethal variants in humans: lessons learned from a large molecular autopsy cohort. Genome Med 2021;13:161. [PMID: 34645488 DOI: 10.1186/s13073-021-00973-0] [Reference Citation Analysis]
21 Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies. Neuromuscul Disord 2020;30:877-87. [PMID: 33127292 DOI: 10.1016/j.nmd.2020.09.032] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
22 Rich KA, Moscarello T, Siskind C, Brock G, Tan CA, Vatta M, Winder TL, Elsheikh B, Vicini L, Tucker B, Palettas M, Hershberger RE, Kissel JT, Morales A, Roggenbuck J. Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. Mol Genet Genomic Med 2020;8:e1460. [PMID: 32815318 DOI: 10.1002/mgg3.1460] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
23 Zanoteli E. Centronuclear myopathy: advances in genetic understanding and potential for future treatments. Expert Opinion on Orphan Drugs 2018;6:375-84. [DOI: 10.1080/21678707.2018.1480366] [Reference Citation Analysis]
24 Jang JY, Park Y, Jang DH, Jang JH, Ryu JS. Two novel mutations in TTN of a patient with congenital myopathy: A case report. Mol Genet Genomic Med 2019;7:e866. [PMID: 31332964 DOI: 10.1002/mgg3.866] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
25 Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet 2021;58:609-18. [PMID: 33060286 DOI: 10.1136/jmedgenet-2020-106901] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
26 Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. Ann Clin Transl Neurol 2020;7:353-62. [PMID: 32153140 DOI: 10.1002/acn3.51002] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 5.0] [Reference Citation Analysis]
27 Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Recent advances in understanding congenital myopathies. F1000Res 2018;7:F1000 Faculty Rev-1921. [PMID: 30631434 DOI: 10.12688/f1000research.16422.1] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
28 Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 2020;87:217-32. [PMID: 31794073 DOI: 10.1002/ana.25660] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
29 Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Genotype-phenotype correlations in recessive titinopathies. Genet Med 2020;22:2029-40. [PMID: 32778822 DOI: 10.1038/s41436-020-0914-2] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
30 Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. Neuromuscul Disord 2019;29:350-7. [PMID: 31053406 DOI: 10.1016/j.nmd.2019.03.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
31 Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-jarallah AS, Alkhalidi H, Alqudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-bakheet A, Colak D, Udd B, Kaya N. Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies. Genetic Testing and Molecular Biomarkers 2021;25:757-64. [DOI: 10.1089/gtmb.2021.0085] [Reference Citation Analysis]
32 Savarese M, Välipakka S, Johari M, Hackman P, Udd B. Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? J Neuromuscul Dis 2020;7:203-16. [PMID: 32176652 DOI: 10.3233/JND-190459] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
33 Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology 2020;95:e1512-27. [PMID: 32796131 DOI: 10.1212/WNL.0000000000010327] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
34 Zhang Y, Yan H, Liu J, Yan H, Ma Y, Wei C, Wang Z, Xiong H, Chang X. Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre. BMC Pediatr 2022;22:65. [PMID: 35081925 DOI: 10.1186/s12887-021-03024-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
35 Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Ann Clin Transl Neurol 2020;7:846-54. [PMID: 32307885 DOI: 10.1002/acn3.51031] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
36 Matsuo M, Awano H, Maruyama N, Nishio H. Titin fragment in urine: A noninvasive biomarker of muscle degradation. Adv Clin Chem 2019;90:1-23. [PMID: 31122607 DOI: 10.1016/bs.acc.2019.01.001] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 5.3] [Reference Citation Analysis]
37 Warman-Chardon J, Diaz-Manera J, Tasca G, Straub V; MRI workshop study group. 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019. Neuromuscul Disord 2020;30:938-47. [PMID: 33004285 DOI: 10.1016/j.nmd.2020.08.360] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
38 Yu M, Zhu Y, Xie Z, Zheng Y, Xiao J, Zhang W, Nishino I, Yuan Y, Wang Z. Novel TTN mutations and muscle imaging characteristics in congenital titinopathy. Ann Clin Transl Neurol 2019;6:1311-8. [PMID: 31353864 DOI: 10.1002/acn3.50831] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
39 El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature. Gene Reports 2022. [DOI: 10.1016/j.genrep.2022.101587] [Reference Citation Analysis]
40 McDermott H, Henderson A, Robinson HK, Heaver R, Halahakoon C, Cox H, Naik S. Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing. Neuromuscul Disord 2021;31:783-7. [PMID: 34303570 DOI: 10.1016/j.nmd.2021.05.004] [Reference Citation Analysis]
41 François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress. Eur J Paediatr Neurol 2021;31:78-87. [PMID: 33667896 DOI: 10.1016/j.ejpn.2021.01.011] [Reference Citation Analysis]
42 Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol 2021;141:431-53. [PMID: 33449170 DOI: 10.1007/s00401-020-02257-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 7.0] [Reference Citation Analysis]
43 Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A. Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Clin Genet 2021;99:732-9. [PMID: 33506510 DOI: 10.1111/cge.13933] [Reference Citation Analysis]
44 Lacomis D. What is in the Myopathy Literature? J Clin Neuromuscul Dis 2019;21:7-13. [PMID: 31453849 DOI: 10.1097/CND.0000000000000261] [Reference Citation Analysis]
45 Chojdak-łukasiewicz J, Paradowski B. Facial Asymmetry: A Narrative Review of the Most Common Neurological Causes. Symmetry 2022;14:737. [DOI: 10.3390/sym14040737] [Reference Citation Analysis]
46 Beecroft SJ, Lamont PJ, Edwards S, Goullée H, Davis MR, Laing NG, Ravenscroft G. The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders. Mol Diagn Ther 2020;24:641-52. [PMID: 32997275 DOI: 10.1007/s40291-020-00495-2] [Reference Citation Analysis]
47 Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. J Neuromuscul Dis 2020;7:153-66. [PMID: 32039858 DOI: 10.3233/JND-190423] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 3.5] [Reference Citation Analysis]
48 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
49 Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains. J Mol Diagn 2022:S1525-1578(22)00131-3. [PMID: 35580751 DOI: 10.1016/j.jmoldx.2022.04.006] [Reference Citation Analysis]
50 Doroftei B, Maftei R, Ilie OD, Armeanu T, Puiu M, Ivanov I, Nemtanu L. In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review. Diagnostics (Basel) 2021;11:2328. [PMID: 34943567 DOI: 10.3390/diagnostics11122328] [Reference Citation Analysis]
51 Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 2020;41:403-11. [PMID: 31660661 DOI: 10.1002/humu.23938] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
52 Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort. Pediatr Neurol 2021;115:50-65. [PMID: 33333461 DOI: 10.1016/j.pediatrneurol.2020.11.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
53 Huang K, Duan HQ, Li QX, Luo YB, Bi FF, Yang H. Clinicopathological features of titinopathy from a Chinese neuromuscular center. Neuropathology 2021;41:349-56. [PMID: 34553419 DOI: 10.1111/neup.12761] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]