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For: Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Prevalence of congenital muscular dystrophy in Italy: a population study. Neurology 2015;84:904-11. [PMID: 25653289 DOI: 10.1212/WNL.0000000000001303] [Cited by in Crossref: 39] [Cited by in F6Publishing: 17] [Article Influence: 5.6] [Reference Citation Analysis]
Number Citing Articles
1 Masri AT, Oweis L, Qudah AA, El-shanti H. Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources. Clinical Neurology and Neurosurgery 2022;217:107271. [DOI: 10.1016/j.clineuro.2022.107271] [Reference Citation Analysis]
2 Barraza-Flores P, Bukovec KE, Dagda M, Conner BW, Oliveira-Santos A, Grange RW, Burkin DJ. Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of laminin-α2 related congenital muscular dystrophy. Hum Mol Genet 2020;29:2162-70. [PMID: 32472139 DOI: 10.1093/hmg/ddaa104] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. Neurology 2021;96:e1413-24. [PMID: 33441455 DOI: 10.1212/WNL.0000000000011499] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Gargiuli C, Schena E, Mattioli E, Columbaro M, D'Apice MR, Novelli G, Greggi T, Lattanzi G. Lamins and bone disorders: current understanding and perspectives. Oncotarget 2018;9:22817-31. [PMID: 29854317 DOI: 10.18632/oncotarget.25071] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.8] [Reference Citation Analysis]
5 López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. Int J Mol Sci 2022;23:4410. [PMID: 35457228 DOI: 10.3390/ijms23084410] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV. Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. BMC Pediatr 2019;19:98. [PMID: 30961548 DOI: 10.1186/s12887-019-1470-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
7 Tan D, Ge L, Fan Y, Chang X, Wang S, Wei C, Ding J, Liu A, Wang S, Li X, Gao K, Yang H, Que C, Huang Z, Li C, Zhu Y, Mao B, Jin B, Hua Y, Zhang X, Zhang B, Zhu W, Zhang C, Wang Y, Yuan Y, Jiang Y, Rutkowski A, Bönnemann CG, Wu X, Xiong H. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort. Orphanet J Rare Dis 2021;16:319. [PMID: 34281576 DOI: 10.1186/s13023-021-01950-x] [Reference Citation Analysis]
8 Adams JC, Brancaccio A. The evolution of the dystroglycan complex, a major mediator of muscle integrity. Biol Open 2015;4:1163-79. [PMID: 26319583 DOI: 10.1242/bio.012468] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 3.0] [Reference Citation Analysis]
9 Lace B, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, Taurina G, Murmane D, Grinfelde I, Kornejeva L, Krumina Z, Sterna O, Radovica-spalvina I, Vasiljeva I, Gailite L, Stavusis J, Livcane D, Kidere D, Malniece I, Inashkina I. Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia. Neurol Genet 2022;8:e685. [DOI: 10.1212/nxg.0000000000000685] [Reference Citation Analysis]
10 Nouri Z, Sarmadi A, Narrei S, Sehhati M, Tabatabaiefar MA. Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behaviors. Neuromuscular Disorders 2022. [DOI: 10.1016/j.nmd.2022.07.400] [Reference Citation Analysis]
11 Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. J Cell Mol Med 2017;21:1388-93. [PMID: 28157257 DOI: 10.1111/jcmm.13068] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 3.2] [Reference Citation Analysis]
12 Almici E, Chiappini V, López-márquez A, Badosa C, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento A, Roldán M, Lagunas A, Jiménez-mallebrera C, Samitier J. Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies. Front Bioeng Biotechnol 2022;10:851825. [DOI: 10.3389/fbioe.2022.851825] [Reference Citation Analysis]
13 Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, Vitaliti G, Pavone P. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr 2016;42:78. [PMID: 27576556 DOI: 10.1186/s13052-016-0289-9] [Cited by in Crossref: 41] [Cited by in F6Publishing: 22] [Article Influence: 6.8] [Reference Citation Analysis]
14 Nguyen Q, Lim KRQ, Yokota T. Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy. Appl Clin Genet 2019;12:113-30. [PMID: 31308722 DOI: 10.2147/TACG.S187481] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 3.7] [Reference Citation Analysis]
15 Nickolls AR, Lee MM, Zukosky K, Mallon BS, Bönnemann CG. Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies. Dis Model Mech 2020;13:dmm042986. [PMID: 32423971 DOI: 10.1242/dmm.042986] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
16 Willmann R, Gordish-Dressman H, Meinen S, Rüegg MA, Yu Q, Nagaraju K, Kumar A, Girgenrath M, Coffey CBM, Cruz V, Van Ry PM, Bogdanik L, Lutz C, Rutkowski A, Burkin DJ. Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy. J Neuromuscul Dis 2017;4:115-26. [PMID: 28550268 DOI: 10.3233/JND-170217] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
17 Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis 2018;13:170. [PMID: 30257713 DOI: 10.1186/s13023-018-0863-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
18 Ambrosini A, Baldessari D, Pozzi S, Battaglia M, Beltrami E, Merico AM, Rasconi M, Monaco L. Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients. Orphanet J Rare Dis 2021;16:408. [PMID: 34600567 DOI: 10.1186/s13023-021-02047-1] [Reference Citation Analysis]
19 Tan D, Ge L, Fan Y, Wei C, Yang H, Liu A, Xiao J, Xiong H, Zhu Y. Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy. Neuromuscul Disord 2021;31:1144-53. [PMID: 34702656 DOI: 10.1016/j.nmd.2021.09.006] [Reference Citation Analysis]
20 Nguyen NL, Ngoc CTB, Vu CD, Nguyen TTH, Nguyen HH. Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family. Diagnostics (Basel) 2020;10:E741. [PMID: 32987775 DOI: 10.3390/diagnostics10100741] [Reference Citation Analysis]
21 Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. Neurology 2019;93:e1932-43. [PMID: 31653707 DOI: 10.1212/WNL.0000000000008517] [Cited by in Crossref: 12] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
22 Nickolls AR, Bönnemann CG. The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy. Dis Model Mech 2018;11:dmm035931. [PMID: 30578246 DOI: 10.1242/dmm.035931] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 5.8] [Reference Citation Analysis]
23 Singh S, Singh T, Kunja C, Dhoat NS, Dhania NK. Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy. Eur J Pharmacol 2021;912:174568. [PMID: 34656607 DOI: 10.1016/j.ejphar.2021.174568] [Reference Citation Analysis]
24 Cornwall KM, Butterfield RJ, Hernandez A, Heatwole C, Johnson NE. A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy. J Neuromuscul Dis 2018;5:251-5. [PMID: 29689733 DOI: 10.3233/JND-170252] [Reference Citation Analysis]