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- [21] Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case reportWorld Journal of Clinical Cases, 2021, (30) : 9302 - 9309Feng-Juan Ding论文数: 0 引用数: 0 h-index: 0机构: Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Prenatal Diagnosis Center, Jinan Maternal and Child Health HospitalGui-Zhen Lyu论文数: 0 引用数: 0 h-index: 0机构: Department of Human and Molecular Genetics, Baylor College of Medicine Prenatal Diagnosis Center, Jinan Maternal and Child Health HospitalVictor Wei Zhang论文数: 0 引用数: 0 h-index: 0机构: Department of Human and Molecular Genetics, Baylor College of Medicine Prenatal Diagnosis Center, Jinan Maternal and Child Health HospitalHua Jin论文数: 0 引用数: 0 h-index: 0机构: Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital
- [22] Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutationsNEUROLOGICAL SCIENCES, 2024, 45 (09) : 4583 - 4588Nurputra, Dian Kesumapramudya论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, Indonesia Univ Gadjah Mada, Fac Med Publ Hlth & Nursing, Master Program Clin Med, Yogyakarta, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, IndonesiaSofian, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Fac Med Publ Hlth & Nursing, Master Program Clin Med, Yogyakarta, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, IndonesiaIskandar, Kristy论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, Indonesia Univ Gadjah Mada, Acad Hosp, Yogyakarta, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, IndonesiaTriono, Agung论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, IndonesiaHerini, Elizabeth Siti论文数: 0 引用数: 0 h-index: 0机构: Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, IndonesiaUlhaq, Zulvikar Syambani论文数: 0 引用数: 0 h-index: 0机构: Natl Res & Innovat Agcy Republ Indonesia, Reserach Ctr Preclin & Clin Med, Cibinong, Indonesia Univ Gadjah Mada, Sardjito Gen Hosp, Fac Med Publ Hlth & Nursing, Dept Pediat,Div Pediat Neurol, Yogyakarta, Indonesia
- [23] Epilepsy phenotype in patients with rare de novo DYNC1H1 variantsEUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 24 - 25论文数: 引用数: h-index:机构:Barca, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBak, M.论文数: 0 引用数: 0 h-index: 0机构: Copenaghen Hosp, Copenhagen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBardakjian, T.论文数: 0 引用数: 0 h-index: 0机构: Uphs, Philadelphia, PA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBilo, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyCanafoglia, L.论文数: 0 引用数: 0 h-index: 0机构: Besta, Milan, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyCohen, J.论文数: 0 引用数: 0 h-index: 0机构: Kennedy, Brookline, MA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, Italy论文数: 引用数: h-index:机构:Alegre, P. Gonzalez论文数: 0 引用数: 0 h-index: 0机构: UPENN, Philadelphia, PA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyJohannesen, K.论文数: 0 引用数: 0 h-index: 0机构: Filadelfia, Copenhagen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyHammer, T.论文数: 0 引用数: 0 h-index: 0机构: Filadelfia, Copenhagen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyHelbig, K.论文数: 0 引用数: 0 h-index: 0机构: Chop, Philadelphia, PA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyLemke, J.论文数: 0 引用数: 0 h-index: 0机构: Med Uni Leipzig, Leipzig, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyOrtiz-Gonzalez, X.论文数: 0 引用数: 0 h-index: 0机构: Chop, Philadelphia, PA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyPowis, Z.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Seattle, WA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyRabin, R.论文数: 0 引用数: 0 h-index: 0机构: Nyumc, New York, NY USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyRoende, G.论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp, Copenhagen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySchelhaas, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySchuler, E.论文数: 0 引用数: 0 h-index: 0机构: Med Uni Heidelberg, Heidelberg, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySyrbe, S.论文数: 0 引用数: 0 h-index: 0机构: Med Uni Heidelberg, Heidelberg, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyUgga, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Naples, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyVari, M. S.论文数: 0 引用数: 0 h-index: 0机构: Gaslini, Genoa, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyVerhoeven, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Eindhoven, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud UMC, Mastrticht, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Gaslini, Genoa, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, Italy
- [24] Molecular analysis of a novel donor splice site variant in DYNC1H1EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 235 - 236Petraityte, Gunda论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaMaldziene, Zivile论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaMikstiene, Violeta论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaSiavriene, Evelina论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaRancelis, Tautvydas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaKucinskas, Vaidutis论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, LithuaniaPreiksaitiene, Egle论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania Vilnius Univ, Inst Biomed Sci, Dept Human & Med Genet, Fac Med, Vilnius, Lithuania
- [25] Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutationOPHTHALMIC GENETICS, 2023, 44 (06) : 568 - 571Kenney, Ryan论文数: 0 引用数: 0 h-index: 0机构: Penn State Coll Med, 500 Univ Dr, Hershey, PA USA Penn State Coll Med, 500 Univ Dr, Hershey, PA USABorkhetaria, Rucha论文数: 0 引用数: 0 h-index: 0机构: Penn State Coll Med, 500 Univ Dr, Hershey, PA USA Penn State Coll Med, 500 Univ Dr, Hershey, PA USASoni, Ajay论文数: 0 引用数: 0 h-index: 0机构: Penn State Coll Med, Dept Ophthalmol, 500 Univ Dr, Hershey, PA USA Penn State Coll Med, 500 Univ Dr, Hershey, PA USAAliu, Ermal论文数: 0 引用数: 0 h-index: 0机构: Penn State Coll Med, Dept Pediat & Genet, 500 Univ Dr, Hershey, PA USA Penn State Coll Med, 500 Univ Dr, Hershey, PA USAEly, Amanda论文数: 0 引用数: 0 h-index: 0机构: Penn State Coll Med, Dept Ophthalmol, 500 Univ Dr, Hershey, PA USA PennState Eye Ctr, Suite 800, HU19, Hershey, PA 17033 USA Penn State Coll Med, 500 Univ Dr, Hershey, PA USA
- [26] Conditional Dync1h1 embryonic deletion and tamoxifen induced knockout in the adult mouseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (07)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Gerstner, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Ophthalmol Visual Sci, Salt Lake City, UT USA Univ Utah, Ophthalmol Visual Sci, Salt Lake City, UT USABaehr, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Ophthalmol Visual Sci, Salt Lake City, UT USA Univ Utah, Ophthalmol Visual Sci, Salt Lake City, UT USA
- [27] Corpus callosum hypoplasia and adult-onset Parkinsonism in DYNC1H1 mutationJOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429 : 326 - 327Filidei, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, ItalyTambasco, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Misericordia Hosp, Neurol Clin, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, ItalyProntera, Paolo论文数: 0 引用数: 0 h-index: 0机构: CS Maria Misericordia Hosp, Med Genet Clin, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, ItalyCappelletti, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Neurol Clin, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, ItalySimoni, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, Italy论文数: 引用数: h-index:机构:Parnettie, Lucilla论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Santa Maria Misericordia Hosp, Neurol Sect, Dept Med & Surg, Santa Maria, RS, Brazil Univ Perugia, Med & Surg, Neurol Clin, S Maria Misericordia Hosp, Perugia, Italy Univ Perugia, Santa Maria Misericordia Hosp, Neurol Sect, Dept Med & Surg, Perugia, Italy Univ Perugia, Neurol Sect, Dept Med & Surg, Perugia, Italy
- [28] Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Journal of Neurology, 2015, 262 : 2124 - 2134Alleene V. Strickland论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMaria Schabhüttl论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsHans Offenbacher论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMatthis Synofzik论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsNatalie S. Hauser论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMichaela Brunner-Krainz论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsUrsula Gruber-Sedlmayr论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsSteven A. Moore论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsReinhard Windhager论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsBenjamin Bender论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMatthew Harms论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsStephan Klebe论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsPeter Young论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMarina Kennerson论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsAvencia Sanchez Mejias Garcia论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMichael A. Gonzalez论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsStephan Züchner论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsRebecca Schule论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMichael E. Shy论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human GenomicsMichaela Auer-Grumbach论文数: 0 引用数: 0 h-index: 0机构: University of Miami Miller School of Medicine,Department of Human Genetics and Hussman Institute for Human Genomics
- [29] Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1JOURNAL OF NEUROLOGY, 2015, 262 (09) : 2124 - 2134Strickland, Alleene V.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USASchabhuettl, Maria论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAOffenbacher, Hans论文数: 0 引用数: 0 h-index: 0机构: Hosp Knittelfeld, Dept Neurol, Knittelfeld, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USASynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAHauser, Natalie S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cent Calif, Dept Med Genet, Madera, CA USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USABrunner-Krainz, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Div Gen Pediat, Graz, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAGruber-Sedlmayr, Ursula论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Div Gen Pediat, Graz, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAMoore, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Pathol, Iowa City, IA USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAWindhager, Reinhard论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USABender, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tubingen, Dept Diagnost & Intervent Neuroradiol, Magnet Resonance Res Grp, Tubingen, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAHarms, Matthew论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO USA Washington Univ, Sch Med, Hope Ctr Neurol Disorders, St Louis, MO USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAKlebe, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wuerzburg, Dept Neurol, Wurzburg, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAYoung, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Sleep Med & Neuromuscular Disorders, D-48149 Munster, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAKennerson, Marina论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia Concord Hosp, Mol Med Lab, Sydney, NSW, Australia Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAGarcia, Avencia Sanchez Mejias论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAGonzalez, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAZuechner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USASchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAShy, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USAAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA
- [30] 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