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- [1] SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeBRAIN, 2013, 136 : 3634 - 3644Krieger, Michael论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyRoos, Andreas论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Julich Aachen Res Alliance JARA Brain Translat Me, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyStendel, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Aachen, RWTH Aachen, Dept Neurol, D-52074 Aachen, Germany Univ Aachen, RWTH Aachen, JARA Brain Translat Med, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Julich Aachen Res Alliance JARA Brain Translat Me, D-52074 Aachen, Germany Univ Aachen, RWTH Aachen, Dept Neurol, D-52074 Aachen, Germany Univ Aachen, RWTH Aachen, JARA Brain Translat Med, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanySonmez, Fatma Mujgan论文数: 0 引用数: 0 h-index: 0机构: Turgut Ozal Univ, Fac Med, Dept Child Neurol, TR-06510 Ankara, Turkey Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyBaudis, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Mol Life Sci, CH-8057 Zurich, Switzerland Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyBornemann, Antje论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Brain Res, D-72076 Tubingen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germanyde Goede, Christian论文数: 0 引用数: 0 h-index: 0机构: Royal Preston Hosp, Dept Paediat Neurol, Preston PR2 9HT, Lancs, England Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyDufke, Andreas论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyFinkel, Richard S.论文数: 0 引用数: 0 h-index: 0机构: Nemours Childrens Hosp, Div Neurol, Orlando, FL 32827 USA Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyGoebel, Hans H.论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Neuropathol, D-55131 Mainz, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyHaeussler, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Dept Paediat, Ctr Children Dev Disorders & Handicaps, D-97080 Wurzburg, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyKingston, Helen论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, Manchester M13 9WL, Lancs, England Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyKirschner, Janbernd论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Div Neuropaediat & Muscle Disorders, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyMedne, Livija论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Paediat, Div Genet, Philadelphia, PA 19104 USA Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyMuschke, Petra论文数: 0 引用数: 0 h-index: 0机构: Otto Von Guericke Univ, Inst Human Genet, D-39120 Magdeburg, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyRivier, Francois论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Neuropediat CR Malad Neuromusculaires, F-34295 Montpellier, France Univ Montpellier 2, Univ Montpellier 1, INSERM, U1046, F-34295 Montpellier, France Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyRudnik-Schoeneborn, Sabine论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanySpengler, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyInzana, Francesca论文数: 0 引用数: 0 h-index: 0机构: Hosp Bolzano, Genet Counselling Serv, Dept Paediat, I-39100 Bolzano, Italy Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyStanzial, Franco论文数: 0 引用数: 0 h-index: 0机构: Hosp Bolzano, Genet Counselling Serv, Dept Paediat, I-39100 Bolzano, Italy Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyBenedicenti, Francesco论文数: 0 引用数: 0 h-index: 0机构: Hosp Bolzano, Genet Counselling Serv, Dept Paediat, I-39100 Bolzano, Italy Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanySynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Neurol, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyLia Taratuto, Ana论文数: 0 引用数: 0 h-index: 0机构: FLENI, Neurol Res Inst, Dept Neuropathol, Buenos Aires, DF, Argentina Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyPirra, Laura论文数: 0 引用数: 0 h-index: 0机构: Favaloro Fdn, Dept Neurol, Buenos Aires, DF, Argentina Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyTay, Stacey Kiat-Hong论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Div Paediat Neurol & Dev Paediat, Singapore 119074, Singapore Natl Univ Singapore Hosp, Singapore 119074, Singapore Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyTopaloglu, Haluk论文数: 0 引用数: 0 h-index: 0机构: Ihsan Dogramaci Childrens Hosp, Dept Paediat Neurol, TR-06100 Ankara, Turkey Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyUyanik, Goekhan论文数: 0 引用数: 0 h-index: 0机构: Hanusch Hosp, Ctr Med Genet, A-1140 Vienna, Austria Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyWand, Dorothea论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Halle, Dept Human Genet & Med Biol, D-06097 Halle, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyWilliams, Denise论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Fdn Trust, West Midlands Reg Genet Labs, Birmingham B15 2TG, W Midlands, England Birmingham Womens Fdn Trust, Dept Clin Genet, Birmingham B15 2TG, W Midlands, England Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyZerres, Klaus论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Julich Aachen Res Alliance JARA Brain Translat Me, D-52074 Aachen, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, GermanySenderek, Jan论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80336 Munich, Germany Rhein Westfal Tech Hsch RWTH Aachen Univ, Inst Human Genet, D-52074 Aachen, Germany
- [2] Loss of function mutations in SIL1 cause Marinesco-Sjogren syndromeCLINICAL GENETICS, 2006, 69 (05) : 399 - 400Van Raamsdonk, JM论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Mol Med, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada Univ British Columbia, Ctr Mol Med, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada
- [3] Pathomechanism of SIL1 mutated Marinesco-Sjogren syndromeNEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 787 - 787Okada, M.论文数: 0 引用数: 0 h-index: 0机构: NCNP, Natl Inst Neurosci, Tokyo, Japan NCNP, Natl Inst Neurosci, Tokyo, Japan论文数: 引用数: h-index:机构:Malicdan, M. C.论文数: 0 引用数: 0 h-index: 0机构: NCNP, Natl Inst Neurosci, Tokyo, Japan NCNP, Natl Inst Neurosci, Tokyo, JapanNonaka, I.论文数: 0 引用数: 0 h-index: 0机构: NCNP, Natl Inst Neurosci, Tokyo, Japan NCNP, Natl Inst Neurosci, Tokyo, JapanHayashi, Y. K.论文数: 0 引用数: 0 h-index: 0机构: NCNP, Natl Inst Neurosci, Tokyo, Japan NCNP, Natl Inst Neurosci, Tokyo, Japan论文数: 引用数: h-index:机构:
- [4] Marinesco-Sjogren syndrome:: Correlation of nuclear changes to mutations in BAP/SIL1NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 787 - 787Schroeder, J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Aachen, Aachen, Germany Univ Hosp Aachen, Aachen, GermanySenderek, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Aachen, Aachen, Germany Univ Hosp Aachen, Aachen, GermanyWeis, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Aachen, Aachen, Germany Univ Hosp Aachen, Aachen, Germany
- [5] Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotypeEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2013, 17 (02) : 199 - 203Horvers, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Rijnstate Hosp, Dept Neurol, Arnhem, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsAnttonen, A. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Folkhalsan Inst Genet, Helsinki, Finland Univ Helsinki, Ctr Neurosci, Helsinki, Finland Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsLehesjoki, A. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Folkhalsan Inst Genet, Helsinki, Finland Univ Helsinki, Ctr Neurosci, Helsinki, Finland Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsMorava, E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsWortmann, S.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsVermeer, S.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlandsvan de Warrenburg, B. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, NetherlandsWillemsen, M. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands
- [6] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndromeJOURNAL OF HUMAN GENETICS, 2010, 55 (03) : 142 - 146Takahata, Taichi论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanYamada, Koki论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Sasebo City Gen Hosp, Dept Ophthalmol, Sasebo, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanYamada, Yoshihisa论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanOno, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Dept Psychiat, Nagasaki 8528501, Japan Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanKinoshita, Akira论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanMatsuzaka, Tetsuo论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Pediat, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Childrens Med & Welf Ctr, Dept Pediat, Isahaya, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanYoshiura, Koh-ichiro论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, JapanKitaoka, Takashi论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, Japan Nagasaki Univ, Dept Ophthalmol & Visual Sci, Grad Sch Biomed Sci, Nagasaki 8528501, Japan
- [7] Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjogren SyndromeFRONTIERS IN NEUROLOGY, 2019, 10Getz, Christian论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyHathazi, Denisa论文数: 0 引用数: 0 h-index: 0机构: Leibniz Inst Analyt Wissensch ISAS eV, Dortmund, Germany Univ Cambridge, Dept Clin Neurosci, Cambridge, England RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyMuenchberg, Ute论文数: 0 引用数: 0 h-index: 0机构: Leibniz Inst Analyt Wissensch ISAS eV, Dortmund, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyBuchkremer, Stephan论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyLabisch, Thomas论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyMunro, Ben论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Neurosci, Cambridge, England RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Neurosci, Cambridge, England RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyTopf, Ma论文数: 0 引用数: 0 h-index: 0机构: Inst Genet Med, Int Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, GermanyRoos, Andreas论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany Leibniz Inst Analyt Wissensch ISAS eV, Dortmund, Germany Univ Duisburg Essen, Univ Childrens Hosp, Fac Med, Pediat Neurolog, Essen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany
- [8] Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (08) : 961 - 969Anttonen, Anna-Kaisa论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet & Neurosci Ctr, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandSiintola, Eija论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet & Neurosci Ctr, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandTranebjaerg, Lisbeth论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tromsoe, Dept Med Genet, Tromso, Norway Univ Copenhagen, Dept Audiol, H S Bispebjerg Hosp, Copenhagen, Denmark Univ Copenhagen, IMBG, Wilhelm Johannsen Ctr Funct Genom, Copenhagen, Denmark Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandIwata, Nobue K.论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Neurol, Grad Sch Med, Div Neurosci, Tokyo, Japan Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandBijlsma, Emilia K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandMeguro, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Niigata Cent Hosp, Dept Internal Med, Niigata, Japan Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandIchikawa, Yaeko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Neurol, Grad Sch Med, Div Neurosci, Tokyo, Japan Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandGoto, Jun论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Neurol, Grad Sch Med, Div Neurosci, Tokyo, Japan Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandKopra, Outi论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet & Neurosci Ctr, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, FinlandLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet & Neurosci Ctr, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland
- [9] Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathyNEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 683 - 683Senderek, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyKrieger, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyStendel, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyNorth, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyQuijano-Roy, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyEbinger, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanySchroder, J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyVoit, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyWeis, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyTopaloglu, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, GermanyZerres, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Technol, Dept Human Genet, F-75634 Aachen, Germany
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