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- [11] A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathyCLINICAL CASE REPORTS, 2021, 9 (08):Valilou, Saeed Farajzadeh论文数: 0 引用数: 0 h-index: 0机构: Sarem Womens Hosp, Dept Med Genet, Tehran, Iran Sarem Womens Hosp, Sarem Cell Res Ctr SCRC, Tehran, Iran Universal Sci Educ & Res Network USERN, Med Genet Network MeGeNe, Tehran, Iran Sarem Womens Hosp, Dept Med Genet, Tehran, IranHagh, Javad Karimzad论文数: 0 引用数: 0 h-index: 0机构: Sarem Womens Hosp, Dept Med Genet, Tehran, Iran Sarem Womens Hosp, Sarem Cell Res Ctr SCRC, Tehran, Iran Cuypers & Cuypers Fertil Ctr Heinsberger Hofe, IVF Ctr, Heinsberg, Germany Sarem Womens Hosp, Dept Med Genet, Tehran, IranAsl, Mohammad Salimi论文数: 0 引用数: 0 h-index: 0机构: Sarem Womens Hosp, Dept Med Genet, Tehran, Iran Sarem Womens Hosp, Sarem Cell Res Ctr SCRC, Tehran, Iran Sarem Womens Hosp, Dept Med Genet, Tehran, IranRad, Isa Abdi论文数: 0 引用数: 0 h-index: 0机构: Urmia Univ Med Sci, Sch Med, Dept Med Genet, Orumiyeh, Iran Sarem Womens Hosp, Dept Med Genet, Tehran, Iran论文数: 引用数: h-index:机构:Pooladi, Arash论文数: 0 引用数: 0 h-index: 0机构: Kurdistan Univ Med Sci, Canc & Immunol Res Ctr, Res Inst Hlth Dev, Sanandaj, Iran Kurdistan Univ Med Sci, Fac Med, Dept Med Genet, Sanandaj, Iran Sarem Womens Hosp, Dept Med Genet, Tehran, Iran
- [12] 'North Sea' Progressive Myoclonus Epilepsy: Phenotype of Subjects with GOSR2 MutationNEUROLOGY, 2013, 80Lomax, Lysa Boisse论文数: 0 引用数: 0 h-index: 0机构: Melbourne Brain Ctr, Melbourne, Vic, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaBayly, Marta论文数: 0 引用数: 0 h-index: 0机构: Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaHjalgrim, Helle论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Melbourne Brain Ctr, Melbourne, Vic, AustraliaMoller, Rikke论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Melbourne Brain Ctr, Melbourne, Vic, AustraliaVlaar, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: St Lucas Andreas, Amsterdam, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaAaberg, Kari论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Epilepsy, Oslo, Norway Melbourne Brain Ctr, Melbourne, Vic, AustraliaMarquardt, Iris论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Oldenburg, Germany Melbourne Brain Ctr, Melbourne, Vic, AustraliaGandolfo, Luke论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Melbourne, Vic 3050, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaWillemsen, Michel论文数: 0 引用数: 0 h-index: 0机构: Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnost Nijmegen, Dept Human Genet, Nijmegen, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaO'Sullivan, John论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane Clin Sch, Herston, Qld, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaKorenke, G.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Oldenburg, Germany Melbourne Brain Ctr, Melbourne, Vic, AustraliaBloem, Bastiaan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaDe Coo, Ireneaus论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaVerhagen, Judith论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaSaid, Ines论文数: 0 引用数: 0 h-index: 0机构: St Lucas Andreas, Amsterdam, Netherlands Melbourne Brain Ctr, Melbourne, Vic, AustraliaPrescott, Trine论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Oslo, Norway Melbourne Brain Ctr, Melbourne, Vic, AustraliaStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Oslo, Norway Melbourne Brain Ctr, Melbourne, Vic, AustraliaRasmussen, Magnhild论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Oslo, Norway Melbourne Brain Ctr, Melbourne, Vic, AustraliaVears, Danya论文数: 0 引用数: 0 h-index: 0机构: Melbourne Brain Ctr, Melbourne, Vic, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Inst Genet, Helsinki, Finland Melbourne Brain Ctr, Melbourne, Vic, AustraliaCorbett, Mark论文数: 0 引用数: 0 h-index: 0机构: SA Pathol, Genet & Mol Pathol, Adelaide, SA, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaBahlo, Melanie论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: Sch Paediat & Reprod Hlth, Adelaide, SA, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaDibbens, Leanne论文数: 0 引用数: 0 h-index: 0机构: Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA, Australia Melbourne Brain Ctr, Melbourne, Vic, AustraliaBerkovic, Samuel论文数: 0 引用数: 0 h-index: 0机构: Melbourne Brain Ctr, Heidelberg, Vic, Australia Melbourne Brain Ctr, Melbourne, Vic, Australia
- [13] 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationBRAIN, 2013, 136 : 1146 - 1154Lomax, Lysa Boisse论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaBayly, Marta A.论文数: 0 引用数: 0 h-index: 0机构: Univ S Australia, Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA 5001, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaHjalgrim, Helle论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Res Dept, Dianalund, Denmark Univ Southern Denmark, IRS, Odense, Denmark Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Res Dept, Dianalund, Denmark Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaVlaar, Annemarie M.论文数: 0 引用数: 0 h-index: 0机构: St Lucas Andreas, Dept Neurol, Amsterdam, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaAaberg, Kari M.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Natl Ctr Epilepsy, Oslo, Norway Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaMarquardt, Iris论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Dept Neuropaediat, Oldenburg, Germany Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaGandolfo, Luke C.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Melbourne, Vic 3050, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaWillemsen, Michel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Paediat Neurol, NL-6525 ED Nijmegen, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet Genome Diagnost, NL-6525 ED Nijmegen, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaO'Sullivan, John D.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Sch Med, Royal Brisbane Clin Sch, Herston, Qld, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaKorenke, G. Christoph论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Dept Neuropaediat, Oldenburg, Germany Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaBloem, Bastiaan R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, NL-6525 ED Nijmegen, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, Australiade Coo, Irenaeus F.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurol, Rotterdam, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaVerhagen, Judith M. A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaSaid, Ines论文数: 0 引用数: 0 h-index: 0机构: St Lucas Andreas, Dept Neurol, Amsterdam, Netherlands Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaPrescott, Trine论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaRasmussen, Magnhild论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaVears, Danya F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, FIN-00014 Helsinki, Finland Univ Helsinki, Neurosci Ctr, FIN-00014 Helsinki, Finland Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaCorbett, Mark A.论文数: 0 引用数: 0 h-index: 0机构: SA Pathol, Genet & Mol Pathol, Adelaide, SA, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaBahlo, Melanie论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Melbourne, Vic 3050, Australia Univ Melbourne, Dept Math & Stat, Melbourne, Vic 3010, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: SA Pathol, Genet & Mol Pathol, Adelaide, SA, Australia Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia Womens & Childrens Hlth Res Inst, Adelaide, SA, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaDibbens, Leanne M.论文数: 0 引用数: 0 h-index: 0机构: Univ S Australia, Sch Pharm & Med Sci, Epilepsy Res Program, Adelaide, SA 5001, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, AustraliaBerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Heidelberg, Vic, Australia
- [14] Compound heterozygous KCTD7 variants in progressive myoclonus epilepsyJOURNAL OF NEUROGENETICS, 2021, 35 (02) : 74 - 83Burke, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USASturgeon, Morgan论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAZastrow, Diane B.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAFernandez, Liliana论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAPrybol, Cameron论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAMarwaha, Shruti论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAFrothingham, Edward P.论文数: 0 引用数: 0 h-index: 0机构: Midvalley Childrens Clin, Albany, OR USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAWard, Patricia A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAFresard, Laure论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAMontgomery, Stephen B.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAEnns, Gregory M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAFisher, Paul G.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA Stanford Univ, Dept Neurol, Sch Med, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAWolfe, Lynne A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAHarding, Brian论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Dept Pathol, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Lab Med Neuropathol, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USACarrington, Blake论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Zebrafish Core, Translat & Funct Genom Branch, NIH, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USABishop, Kevin论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Zebrafish Core, Translat & Funct Genom Branch, NIH, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USASood, Raman论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Zebrafish Core, Translat & Funct Genom Branch, NIH, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAHuang, Yan论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAElkahloun, Abdel论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Microarray Core, Canc Genet & Comparat Genom Branch, NIH, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USABassuk, Alexander G.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAWheeler, Matthew T.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Ctr Undiagnosed Dis, Stanford, CA 94305 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAMarkello, Thomas C.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USAMalicdan, May Christine V.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA NHGRI, NIH, 50 South Dr, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Common Fund, Off Director, 50 South Dr, Bethesda, MD 20892 USA
- [15] Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsyEPILEPSIA, 2008, 49 (05) : 910 - 913Jansen, An C.论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, CanadaAndermann, Eva论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, CanadaNiel, Florence论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Biochim Med Biol Mol, Clermont Ferrand, France Fac Med, INSERM, UMR 384, Clermont Ferrand, France Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, CanadaCreveaux, Isabelle论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Biochim Med Biol Mol, Clermont Ferrand, France Fac Med, INSERM, UMR 384, Clermont Ferrand, France Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, CanadaBoespflug-Tanguy, Odile论文数: 0 引用数: 0 h-index: 0机构: Fac Med, INSERM, UMR 384, Clermont Ferrand, France CHU Clermont Ferrand, Serv Genet Med, Ctr Reference Leucodystrophies, Clermont Ferrand, France Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, CanadaAndermann, Frederick论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada Montreal Neurol Hosp & Inst, Epilepsy Serv, Montreal, PQ H3A 2B4, Canada Montreal Neurol Hosp & Inst, Seizure Clin, Montreal, PQ H3A 2B4, Canada McGill Univ, Dept Pediat, Montreal, PQ H3A 2T5, Canada Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada
- [16] Vanishing white matter (VWM) disease as a cause of progressive myoclonus epilepsyEPILEPSIA, 2006, 47 : 91 - 92Jansen, A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, CanadaAndermann, E.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, CanadaCreveaux, I.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, CanadaNiel, F.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, CanadaBoespflug, O.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, CanadaAndermann, F.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Montreal, PQ, Canada
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A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Paediat, Oxford OX1 3QX, England Univ Oxford, Oxford Harrington Rare Dis Ctr, Oxford OX1 3QX, England Northwestern Univ, Dept Mol Biosci, Rice Inst Biomed Res, Evanston, IL 60208 USA论文数: 引用数: h-index:机构:
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