Lucia Monari - Related publications

Università di Bologna, Bologna, Italy 
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, et al. Clinical spectrum and genetic variations of -related muscular dystrophies in a large cohort of Chinese patients. Journal of Medical Genetics. PMID 32571898 DOI: 10.1136/jmedgenet-2019-106671   
2020 Gharesouran J, Jalaiei A, Hosseinzadeh A, Ghafouri-Fard S, Mokhtari Z, Ghahremanzadeh K, Rezazadeh N, Shiva S, Sadeghvand S, Taheri M, Rezazadeh M. GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease. Metabolic Brain Disease. PMID 32504392 DOI: 10.1007/s11011-020-00586-3   
2020 Liu X, Duan X, Zhang Y, Fan D. Clinical and Genetic Diversity of Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Frontiers in Neurology. 11: 630. PMID 32719652 DOI: 10.3389/fneur.2020.00630   
2020 Zou ZY, Che CH, Feng SY, Fang XY, Huang HP, Liu CY. Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-7. PMID 32720527 DOI: 10.1080/21678421.2020.1797815   
2020 Guo L, Tang WM, Song YZ. [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 22: 608-613. PMID 32571460 DOI: 10.7499/j.issn.1008-8830.2001102   
2020 Luo Y, Bai R, Wang Z, Zhu X, Xing J, Li X. STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency. Molecular Medicine Reports. PMID 32627004 DOI: 10.3892/mmr.2020.11140   
2020 Won SY, Kim YC, Jeong BH. First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene () in Cattle. International Journal of Molecular Sciences. 21. PMID 32549191 DOI: 10.3390/ijms21124246   
2020 Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. Molecular Genetics and Metabolism Reports. 24: 100614. PMID 32547927 DOI: 10.1016/j.ymgmr.2020.100614   
2020 Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S, Zorzato F. Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice. The Journal of Biological Chemistry. PMID 32499372 DOI: 10.1074/jbc.RA120.013846   
2020 Huang L, Li L, Li Q, Chen J, Lin S, Li K, Fan D, Jin W, Li Y, Yang X, Xiong Y, Li M, Yang X. Different Clinical Phenotypes Caused by Three Missense Mutations in Three Chinese Families with Moderate Hemophilia A. Dna and Cell Biology. PMID 32589464 DOI: 10.1089/dna.2020.5359   
2020 Song J, Zhang JW, Fu J, Pang M, Li G, Ma MM. [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]. Zhonghua Nei Ke Za Zhi. 59: 535-539. PMID 32594687 DOI: 10.3760/cma.j.cn112138-20191014-00690   
2020 Bilbao Garay I, Daly AF, Egaña Zunzunegi N, Beckers A. Pituitary Disease in Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview. Journal of Clinical Medicine. 9. PMID 32604740 DOI: 10.3390/jcm9062003   
2020 Kumar SH, Athimoolam K, Suraj M, Das Christu Das MS, Muralidharan A, Jeyam D, Ashokan J, Karthikeyan P, Krishna R, Khanna-Gupta A, Bremadesam Raman L. Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities. Plos One. 15: e0232654. PMID 32559196 DOI: 10.1371/journal.pone.0232654   
2020 Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the gene. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology. 39: 24-28. PMID 32607476 DOI: 10.36185/2532-1900-004   
2020 Rekik S, Sakka S, Romdhane SB, Amer YB, Lehkim L, Farhat N, Mahfoudh KB, Authier FJ, Dammak M, Mhiri C. Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity. Molecular Biology Reports. PMID 32666437 DOI: 10.1007/s11033-020-05643-9   
2020 Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, et al. The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population. Brain : a Journal of Neurology. PMID 32613234 DOI: 10.1093/brain/awaa167   
2020 Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J, Kong X. Identification of four novel mutations in the gene identified in Chinese patients with X-linked Alport syndrome. Biomedical Reports. 13: 4. PMID 32607233 DOI: 10.3892/br.2020.1311   
2020 Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 32614782 DOI: 10.1515/jpem-2019-0575   
2020 Ercu M, Markó L, Schächterle C, Tsvetkov D, Cui Y, Maghsodi S, Bartolomaeus TUP, Maass PG, Zühlke K, Gregersen N, Hübner N, Hodge R, Mühl A, Pohl B, Molé-Illas R, et al. Phosphodiesterase 3A and Arterial Hypertension. Circulation. PMID 32524868 DOI: 10.1161/CIRCULATIONAHA.119.043061   
2020 Soares AR, Figueiredo CM, Quelhas D, Silva ES, Freitas J, Oliveira MJ, Faria S, Fortuna AM, Borges T. Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning Gene Pleiotropy. European Endocrinology. 16: 66-68. PMID 32595772 DOI: 10.17925/EE.2020.16.1.66   
2020 Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, et al. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32506582 DOI: 10.1002/mds.28090   
2020 Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaj SC, Pandey A. A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. Frontiers in Psychiatry. 11: 354. PMID 32499722 DOI: 10.3389/fpsyt.2020.00354   
2020 Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, Marsh RA, Sun M. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Advances. 4: 2578-2594. PMID 32542393 DOI: 10.1182/bloodadvances.2020001605   
2020 Liang Z, Hu W, Li S, Wei Z, Zhu Z. Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 26: e923926. PMID 32579544 DOI: 10.12659/MSM.923926   
2020 Long Z, Li H, Du Y, Chen M, Zhuang J, Han B. Gene mutation profile in patients with acquired pure red cell aplasia. Annals of Hematology. 99: 1749-1754. PMID 32594217 DOI: 10.1007/s00277-020-04154-8   
2020 Geng K, Mu K, Zhao Y, Luan J, Cui Y, Han J. Identification of novel compound heterozygous mutations of the gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly. Intractable & Rare Diseases Research. 9: 95-98. PMID 32494556 DOI: 10.5582/irdr.2020.01031   
2020 Xiu Y, Lv Z, Wang D, Chen X, Huang S, Pan M. Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family. Journal of Molecular Neuroscience : Mn. PMID 32705527 DOI: 10.1007/s12031-020-01650-4   
2020 Shahid S, Shakeel M, Siddiqui S, Ahmed S, Sohail M, Khan IA, Abid A, Shamsi T. Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population. Frontiers in Genetics. 11: 560. PMID 32655615 DOI: 10.3389/fgene.2020.00560   
2020 Freitas HC, Torrezan GT, da Cunha IW, Macedo MP, Karen de Sá V, Corassa M, Ferreira ENE, Saito AO, Dal Molin GZ, Cordeiro de Lima VC, Carraro DM. Mutational Portrait of Lung Adenocarcinoma in Brazilian Patients: Past, Present, and Future of Molecular Profiling in the Clinic. Frontiers in Oncology. 10: 1068. PMID 32714871 DOI: 10.3389/fonc.2020.01068   
2020 Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ, Hanna MG. Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-4. PMID 32619119 DOI: 10.1080/21678421.2020.1786128   
2020 Wu RC, Chen SJ, Chen HC, Tan KT, Jung SM, Lin CY, Chao AS, Huang KG, Chou HH, Chang TC, Chao A, Lai CH. Comprehensive genomic profiling reveals ubiquitous KRAS mutations and frequent PIK3CA mutations in ovarian seromucinous borderline tumor. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 32616873 DOI: 10.1038/s41379-020-0611-3   
2020 Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, Berrocal AM. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. Ophthalmic Genetics. 1-5. PMID 32543263 DOI: 10.1080/13816810.2020.1772315   
2020 Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H. GROWTH PROMOTING THERAPIES MAYBE USEFUL IN SHORT STATURE PATIENTS WITH NON-SPECIFIC SKELETAL ABNORMALITIES CAUSED BY HETEROZYGOUS MUTATIONS: SIX CHINESE CASES AND LITERATURE REVIEW. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. PMID 32658585 DOI: 10.4158/EP-2019-0518   
2020 Wang L, Zou T, Lin Y, Li L, Zhang P, Gong B, Hao J, Zhang H. Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. Molecular Medicine Reports. 22: 2516-2520. PMID 32705276 DOI: 10.3892/mmr.2020.11331   
2020 Jang MA, Seo MY, Choi KJ, Hong DS. A Rare Case of Essential Thrombocythemia with Coexisting and Driver Mutations. Journal of Korean Medical Science. 35: e168. PMID 32537949 DOI: 10.3346/jkms.2020.35.e168   
2020 Choquet H, Kim H. Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity. Methods in Molecular Biology (Clifton, N.J.). 2152: 77-84. PMID 32524545 DOI: 10.1007/978-1-0716-0640-7_6   
2020 Mishra R, Kunar R, Mandal L, Alone DP, Chandrasekharan S, Tiwari AK, Tapadia MG, Mukherjee A, Roy JK. A Forward Genetic Approach to Mapping a -Element Second Site Mutation Identifies as a Novel Tumour Suppressor in . G3 (Bethesda, Md.). PMID 32591349 DOI: 10.1534/g3.120.401501   
2020 Nolte JW, Alders M, Karssemakers LHE, Becking AG, Hennekam RCM. Molecular basis of unilateral condylar hyperplasia? International Journal of Oral and Maxillofacial Surgery. PMID 32423691 DOI: 10.1016/j.ijom.2020.01.017   
2020 Justine Perrin R, Rousset-Rouvière C, Garaix F, Cano A, Conrath J, Boyer O, Tsimaratos M. mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy. Jimd Reports. 54: 37-44. PMID 32685349 DOI: 10.1002/jmd2.12068   
2020 Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. New -acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency. American Journal of Respiratory Cell and Molecular Biology. PMID 32515985 DOI: 10.1165/rcmb.2020-0021OC   
2020 Zhao H, He L, Li S, Huang H, Tang F, Han X, Lin Z, Tian C, Huang R, Zhou P, Huang J, Deng S, Li Z. Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem Cell Research. 46: 101864. PMID 32544858 DOI: 10.1016/j.scr.2020.101864   
2020 Cui F, Sun L, Qiao J, Li J, Li M, Chen S, Sun B, Huang X. Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study. Medicine. 99: e20193. PMID 32501971 DOI: 10.1097/MD.0000000000020193   
2020 Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE. Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. Journal of the American Heart Association. 9: e016195. PMID 32458740 DOI: 10.1161/JAHA.120.016195   
2020 Sun Y, Kong X, Zhao Z, Zhao X. Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China. Bmc Medical Genetics. 21: 133. PMID 32552676 DOI: 10.1186/s12881-020-01069-z   
2020 Bagheri M, Makhdoomi K, Taghizadeh Afshari A, Nikibakhsh AA, Abdi Rad I. Identification of Novel Pathogenic Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease. Reports of Biochemistry & Molecular Biology. 8: 401-406. PMID 32582798   
2020 Umene R, Kitamura M, Arai H, Matsumura K, Ishimaru Y, Maeda K, Uramatsu T, Obata Y, Mori T, Sohara E, Uchida S, Nishino T. Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency. Cen Case Reports. PMID 32506365 DOI: 10.1007/s13730-020-00489-3   
2020 Carvalho B, Marques CJ, Santos-Silva R, Fontoura M, Carvalho D, Carvalho F. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. PMID 32131114 DOI: 10.1055/a-1108-1419   
2020 Liang C, Luo L, Bai J, Bai L, Bian DD, Ren Y, Liu S, Chen Y, Duan ZP, Zheng SJ. [Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene]. Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology. 28: 428-433. PMID 32536060 DOI: 10.3760/cma.j.cn501113-20200217-00051   
2020 Sen K, Finau M, Ghosh P. Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype. Journal of Neurology. PMID 32623594 DOI: 10.1007/s00415-020-10028-w   
2020 Arbeithuber B, Hester J, Cremona MA, Stoler N, Zaidi A, Higgins B, Anthony K, Chiaromonte F, Diaz FJ, Makova KD. Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues. Plos Biology. 18: e3000745. PMID 32667908 DOI: 10.1371/journal.pbio.3000745