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- [21] Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeEuropean Journal of Human Genetics, 2023, 31 : 479 - 484Francesca Piceci-Sparascio论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsLucia Micale论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsBarbara Torres论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsValentina Guida论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsFederica Consoli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsIsabella Torrente论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsAnnamaria Onori论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsEmanuela Frustaci论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsMaria Cecilia D’Asdia论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsFrancesco Petrizzelli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsLaura Bernardini论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsCecilia Mancini论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsFiorenza Soli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsDario Cocciadiferro论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsDaniele Guadagnolo论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsGioia Mastromoro论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsCarolina Putotto论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsFranco Fontana论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsNicola Brunetti-Pierri论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsAntonio Novelli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsAntonio Pizzuti论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsBruno Marino论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsMaria Cristina Digilio论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsTommaso Mazza论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsBruno Dallapiccola论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsVictor Luis Ruiz-Perez论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsMarco Tartaglia论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsMarco Castori论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical GeneticsAlessandro De Luca论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS-Casa Sollievo della Sofferenza,Division of Medical Genetics
- [22] TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophyEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (06) : 815 - 825论文数: 引用数: h-index:机构:Zaharieva, Irina论文数: 0 引用数: 0 h-index: 0机构: UCL, Dubowitz Neuromuscular Ctr, Great Ormond St Inst Child Hlth, London, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsBohringer, Stefan论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Med Stat, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands论文数: 引用数: h-index:机构:Chaouch, Amina论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Salford Royal Fdn Trust, Greater Manchester Neurosci Ctr, Salford, Lancs, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsRoos, Andreas论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsScotton, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Med Sci, Sect Microbiol & Med Genet, Ferrara, Italy Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsClaustres, Mireille论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Lab Genet Rare Dis LGMR EA7402, Montpellier, France Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsBello, Luca论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Ctr Genet Med Res, Washington, DC 20010 USA Univ Padua, Dept Neurosci, Padua, Italy Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsMcDonald, Craig M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Med Ctr, Sacramento, CA 95817 USA Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsHoffman, Eric P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Ctr Genet Med Res, Washington, DC 20010 USA Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsKoeks, Zaida论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsSuchiman, H. Eka论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Mol Epidemiol, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsCirak, Sebahattin论文数: 0 引用数: 0 h-index: 0机构: UCL, Dubowitz Neuromuscular Ctr, Great Ormond St Inst Child Hlth, London, England Univ Hosp Cologne, Dept Pediat, Cologne, Germany Univ Cologne, CMMC, Cologne, Germany Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsScoto, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: UCL, Dubowitz Neuromuscular Ctr, Great Ormond St Inst Child Hlth, London, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsReza, Mojgan论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands't Hoen, Peter A. C.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsNiks, Erik H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsTuffery-Giraud, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Lab Genet Rare Dis LGMR EA7402, Montpellier, France Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands论文数: 引用数: h-index:机构:Muntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL, Dubowitz Neuromuscular Ctr, Great Ormond St Inst Child Hlth, London, England UCL, Great Ormond St Inst Child Hlth Biomed Res Ctr, Natl Inst Hlth Res, London, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsAartsma-Rus, Annemieke论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsDubrovsky, Alberto论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsKornberg, Andrew论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsNorth, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsRyan, Monique论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsWebster, Richard论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsBiggar, W. Douglas论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsMcAdam, Laura C.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsMah, Jean K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsKolski, Hanna论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsVishwanathan, V.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsChidambaranathan, S.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsNevo, Yoram论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsGorni, Ksenija论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsCarlo, Jose论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsTulinius, Mar论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsLotze, Timothy论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsBertorini, Tulio E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsDay, John W.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsKarachunski, Peter论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsClemens, Paula R.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsAbdel-Hamid, Hoda论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsTeasley, Jean论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsKuntz, Nancy论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsDriscoll, Sherilyn论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsBodensteiner, John B.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsConnolly, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, NetherlandsPestronk, Alan论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands
- [23] Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defectsSCIENTIFIC REPORTS, 2022, 12 (01)Qiu, Hantian论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, JapanTsurumi, Yuta论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, Japan Hoyu Co Ltd, Gen Res Inst, Nagakute, Aichi 4801136, Japan Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, JapanKatoh, Yohei论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, JapanNakayama, Kazuhisa论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Pharmaceut Sci, Dept Physiol Chem, Sakyo Ku, Kyoto 6068501, Japan
- [24] Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defectsScientific Reports, 12Hantian Qiu论文数: 0 引用数: 0 h-index: 0机构: Kyoto University,Department of Physiological Chemistry, Graduate School of Pharmaceutical SciencesYuta Tsurumi论文数: 0 引用数: 0 h-index: 0机构: Kyoto University,Department of Physiological Chemistry, Graduate School of Pharmaceutical SciencesYohei Katoh论文数: 0 引用数: 0 h-index: 0机构: Kyoto University,Department of Physiological Chemistry, Graduate School of Pharmaceutical SciencesKazuhisa Nakayama论文数: 0 引用数: 0 h-index: 0机构: Kyoto University,Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences
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- [26] Ageing of skeletal muscle extracellular matrix and mitochondria: finding a potential linkANNALS OF MEDICINE, 2023, 55 (02)Cai, Lubing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R ChinaShi, Luze论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R ChinaPeng, Zhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R ChinaSun, Yaying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Sports Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R ChinaChen, Jiwu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Sports Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Gen Hosp, Dept Sports Med, Shanghai, Peoples R China
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