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- [1] Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophyNEUROLOGY, 2012, 78 (22) : 1714 - 1720Harms, M. B.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAOri-McKenney, K. M.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAScoto, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USATuck, E. P.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USABell, S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAMa, D.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAMasi, S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAAllred, P.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAAl-Lozi, M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAMiller, L. J.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Dept Neurol, Detroit, MI USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAJani-Acsadi, A.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Dept Neurol, Detroit, MI USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAPestronk, A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAShy, M. E.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Dept Neurol, Detroit, MI USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USAVallee, R. B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USABaloh, R. H.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Neurol, Hope Ctr Neurol Dis, St Louis, MO 63110 USA
- [2] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominanceNEUROGENETICS, 2012, 13 (04) : 327 - 332Tsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Mizuho Ku, Nagoya, Aichi 4678601, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanTomizawa, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Nakashibetsu Town Hosp, Dept Pediat, Nakashibetsu, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanSudo, Akira论文数: 0 引用数: 0 h-index: 0机构: Sapporo City Gen Hosp, Dept Pediat, Sapporo, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanAsahina, Naoko论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShiraishi, Hideaki论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanIto, Jun-ichi论文数: 0 引用数: 0 h-index: 0机构: Taiyo Sono, Dept Pediat, Date, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanTanaka, Hajime论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Habilitat Ctr Disabled Children, Dept Pediat, Asahikawa, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanDoi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Miyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan
- [3] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominanceneurogenetics, 2012, 13 : 327 - 332Yoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsShinji Saitoh论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsKazuhiro Tomizawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAkira Sudo论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaoko Asahina论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHideaki Shiraishi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsJun-ichi Ito论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHajime Tanaka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHiroshi Doi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [4] A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominantNEUROLOGIA I NEUROCHIRURGIA POLSKA, 2018, 52 (02) : 293 - 297Das, Joyutpal论文数: 0 引用数: 0 h-index: 0机构: Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Neurol, Glossop Rd, Sheffield S10 2JF, S Yorkshire, England Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Neurol, Glossop Rd, Sheffield S10 2JF, S Yorkshire, EnglandLilleker, James B.论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Greater Manchester Neurosci Ctr, Stott Lane, Salford M6 8HD, Lancs, England Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Neurol, Glossop Rd, Sheffield S10 2JF, S Yorkshire, EnglandJabbal, Kavaldeep论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Greater Manchester Neurosci Ctr, Stott Lane, Salford M6 8HD, Lancs, England Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Neurol, Glossop Rd, Sheffield S10 2JF, S Yorkshire, EnglandEaling, John论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Greater Manchester Neurosci Ctr, Stott Lane, Salford M6 8HD, Lancs, England Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Neurol, Glossop Rd, Sheffield S10 2JF, S Yorkshire, England
- [5] DYNC1H1 gene methylation correlates with severity of spinal muscular atrophyANNALS OF HUMAN GENETICS, 2019, 83 (02) : 73 - 81Maretina, Marianna论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, Russia St Petersburg State Univ, Dept Genet & Biotechnol, St Petersburg, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, RussiaEgorova, Anna论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, RussiaBaranov, Vladislav论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, Russia St Petersburg State Univ, Dept Genet & Biotechnol, St Petersburg, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, RussiaKiselev, Anton论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, Russia DO Ott Res Inst Obstet Gynecol & Reproductol, Lab Prenatal Diagnost Inherited Dis, Mendeleevskaya Line 3, St Petersburg 199034, Russia
- [6] Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical DevelopmentHUMAN MUTATION, 2014, 35 (03) : 298 - 302Fiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyMoro, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyYi, Julie论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyWeil, Sarah论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBrisca, Giacomo论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyAstrea, Guja论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalySeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyRomano, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Salento, Dept Biol & Environm Sci & Technol, Lecce, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBattini, Roberta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyRossi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyMinetti, Carlo论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBruno, Claudio论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy Ist Giannina Gaslini, Ctr Myol, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalySantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyVallee, Richard论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy
- [7] DYNC1H1 de novo mutation, spinal muscular atrophy and attention problemsNEUROLOGIA, 2022, 37 (05): : 406 - 409Perrone, A. L. Fernandez论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Dept Neuropediat, Madrid, Spain Hosp Univ Quironsalud, Dept Neuropediat, Madrid, SpainFernandez, P. Moreno论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Lab Electromiog, Madrid, Spain Hosp Univ Quironsalud, Dept Neuropediat, Madrid, SpainAlvarez, S.论文数: 0 引用数: 0 h-index: 0机构: NIMGenet, Genomica & Med, Madrid, Spain Hosp Univ Quironsalud, Dept Neuropediat, Madrid, SpainFernandez-Jaen, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Dept Neuropediat, Madrid, Spain Univ Europea Madrid, Fac Med, Madrid, Spain Hosp Univ Quironsalud, Dept Neuropediat, Madrid, Spain
- [8] A NOVEL DYNC1H1 MUTATION CAUSING SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCENEUROLOGY-GENETICS, 2015, 1 (02)Niu, Qi论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R China Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R ChinaWang, Xingxia论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R China Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R ChinaShi, Mingchao论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R China Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R ChinaJin, Qingwen论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R China Nanjing Med Univ, Affiliated Hosp 1, Dept Neurol, Nanjing, Jiangsu, Peoples R China Peoples Hosp Jiangsu Prov, Dept Neurol, Nanjing, Jiangsu, Peoples R China
- [9] Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of DyneinopathiesHUMAN MUTATION, 2015, 36 (03) : 287 - 291Peeters, Kristien论文数: 0 引用数: 0 h-index: 0机构: VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumBervoets, Sven论文数: 0 引用数: 0 h-index: 0机构: VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumChamova, Teodora论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Pediat, Clin Child Neurol, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumDe Vriendt, Els论文数: 0 引用数: 0 h-index: 0机构: VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumBichev, Stoyan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Maychin Dom, Lab Clin Genet, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumKancheva, Dahlia论文数: 0 引用数: 0 h-index: 0机构: VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Med Univ Sofia, Dept Med Chem & Biochem, Mol Med Ctr, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumMitev, Vanyo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Chem & Biochem, Mol Med Ctr, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium论文数: 引用数: h-index:机构:Timmerman, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium VIB, Dept Mol Genet, Peripheral Neuropathy Grp, Antwerp, Belgium VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumDe Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium Univ Hosp Antwerp UZA, Div Neurol, Antwerp, Belgium VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumTournev, Ivailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, BelgiumMacMillan, John论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Queensland, Royal Brisbane & Womens Hosp, Herston, Qld, Australia VIB, Mol Neurogen Grp, Dept Mol Genet, Antwerp, Belgium论文数: 引用数: h-index:机构:
- [10] A novel variant of DYNC1H1 mutations in spinal muscular atrophy lower extremity predominant in an Indonesian patient: a case reportNEUROMUSCULAR DISORDERS, 2022, 32 : S136 - S136Iskandar, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Yogyakarta, Indonesia Univ Gadjah Mada, Yogyakarta, IndonesiaGunadi论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Yogyakarta, Indonesia Univ Gadjah Mada, Yogyakarta, IndonesiaIvana, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Yogyakarta, Indonesia Univ Gadjah Mada, Yogyakarta, IndonesiaTriono, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Yogyakarta, Indonesia Univ Gadjah Mada, Yogyakarta, IndonesiaHerini, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Yogyakarta, Indonesia Univ Gadjah Mada, Yogyakarta, Indonesia