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- [1] Biallelic Pathogenic Variants in RARS2 Cause Progressive Myoclonus Epilepsy and Variable Epilepsy PhenotypeEUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 621 - 621Licchetta, L.论文数: 0 引用数: 0 h-index: 0机构: IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyDi Vito, L.论文数: 0 引用数: 0 h-index: 0机构: IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyMinardi, R.论文数: 0 引用数: 0 h-index: 0机构: IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyPalombo, F.论文数: 0 引用数: 0 h-index: 0机构: IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyGarone, C.论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum, AOU Policlinico S Orsola Malpighi, DIMEC, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyBisulli, F.论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum, DIBINEM Dipartimento Sci Biomed & Neuromot, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyTinuper, P.论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum, DIBINEM Dipartimento Sci Biomed & Neuromot, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyCordelli, D.论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum, AOU Policlinico S Orsola Malpighi, DIMEC, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, ItalyCarelli, V.论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum, DIBINEM Dipartimento Sci Biomed & Neuromot, Bologna, Italy IIRCCS Ist Sci Neurol Bologna, Full Member European Reference Network EpiCARE, Bologna, Italy
- [2] Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyBRAIN, 2022, 145 (07) : 2301 - 2312van der Knoop, Marieke M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsFukata, Yuko论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Nat Sci, Natl Inst Physiol Sci, Dept Mol & Cellular Physiol, Div Membrane Physiol, Okazaki, Aichi 4448787, Japan SOKENDAI Grad Univ Adv Studies, Sch Life Sci, Dept Physiol Sci, Okazaki, Aichi 4448585, Japan Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, Netherlandsvan Ierland, Yvette论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3015 CN Rotterdam, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsKarimiani, Ehsan G.论文数: 0 引用数: 0 h-index: 0机构: Razavi Int Hosp, Next Generat Genet Polyclin, Mashhad, Razavi Khorasan, Iran St Georges Univ, Mol & Clin Sci Inst, Genet Res Ctr, London SW17 0RE, England Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsLehesjoki, Anna Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Res Ctr, Dept Med & Clin Genet, Med, Helsinki 00290, Finland Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMuona, Mikko论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Res Ctr, Dept Med & Clin Genet, Med, Helsinki 00290, Finland Univ Helsinki, Dept Med & Clin Genet, Med, Helsinki 00100, Finland Blueprint Genet, Espoo 02150, Finland Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsPaetau, Anders论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Pathol, Med, Helsinki 00100, Finland Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMiyazaki, Yuri论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Nat Sci, Natl Inst Physiol Sci, Dept Mol & Cellular Physiol, Div Membrane Physiol, Okazaki, Aichi 4448787, Japan SOKENDAI Grad Univ Adv Studies, Sch Life Sci, Dept Physiol Sci, Okazaki, Aichi 4448585, Japan Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHirano, Yoko论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Nat Sci, Natl Inst Physiol Sci, Dept Mol & Cellular Physiol, Div Membrane Physiol, Okazaki, Aichi 4448787, Japan Univ Tokyo, Grad Sch Med, Dept Pediat, Bunkyo Ku, Tokyo 1138655, Japan Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsSelim, Laila论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ Children Hosp, Kasr Al Ainy Sch Med, Div Neurol & Metab, Cairo, Egypt Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, Netherlandsde Franca, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Ctr Med Genet Fed, Dept Morphol & Genet, Sao Paulo, SP, Brazil Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsFock, Rodrigo Ambrosio论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Ctr Med Genet Fed, Dept Morphol & Genet, Sao Paulo, SP, Brazil Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: Centogene GmbH, D-18055 Rostock, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsRuivenkamp, Claudia A. L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, K5S,POB 9600, NL-2300 RC Leiden, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsEaton, Alison J.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMorneau-Jacob, Francois D.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Div Pediat Neurol, Edmonton, AB, Canada Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsSagi-Dain, Lena论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Carmel Med Ctr, Genet Inst, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsShemer-Meiri, Lilach论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Pediat Neurol Unit, Haifa, Israel Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsPeleg, Amir论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Carmel Med Ctr, Genet Inst, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHaddad-Halloun, Jumana论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Dept Biol, IL-3200003 Haifa, Israel Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsKamphuis, Daan J.论文数: 0 引用数: 0 h-index: 0机构: Reinier de Graaf Hosp, Dept Neurol, NL-2625 AD Delft, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsPeeters-Scholte, Cacha M. P. C. D.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Neurol, NL-2300 RA Leiden, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsKurul, Semra Hiz论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, Izmir, Turkey Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, John Van Geest Ctr Brain Repair, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain Univ Ottawa, Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Freiburg, Fac Med, Dept Neuropediat & Muscle Disorders, Med Ctr, Freiburg, Germany Univ Ottawa, Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMurphy, David论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, England Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsWaldmueller, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsSpranger, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Klinikum Bremen Mitte, Praxis Humangenet, D-28209 Bremen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsOverberg, David论文数: 0 引用数: 0 h-index: 0机构: Klinikum Bremen Mitte, Dept Pediat, D-28205 Bremen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMuir, Alison M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA 98195 USA Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsRad, Aboulfazl论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, D-72076 Tubingen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsVona, Barbara论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, D-72076 Tubingen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsAbdulwahad, Firdous论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Translat Genom, Riyadh 11564, Saudi Arabia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMaddirevula, Sateesh论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Translat Genom, Riyadh 11564, Saudi Arabia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsPovolotskaya, Inna S.论文数: 0 引用数: 0 h-index: 0机构: Russian Minist Hlth, Pirogov Russian Natl Res Med Univ, Veltischev Res & Clin Inst Pediat, Moscow, Russia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsVoinova, Victoria Y.论文数: 0 引用数: 0 h-index: 0机构: Russian Minist Hlth, Pirogov Russian Natl Res Med Univ, Veltischev Res & Clin Inst Pediat, Moscow, Russia Mental Hlth Res Ctr, Moscow 107076, Russia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsGowda, Vykuntaraju K.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, Karnataka, India Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsSrinivasan, Varunvenkat M.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, Karnataka, India Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Translat Genom, Riyadh 11564, Saudi Arabia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA 98195 USA Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsAlfadhel, Majid论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, Genet & Precis Med Dept, King Abdullah Specialized Childrens Hosp KASCH, King Abdulaziz Med City, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, Minist Natl Guard Hlth Affairs, King AbdulAziz Med City,Med Genom Res Dept, King Abdullah Int Med Res Ctr KAIMRC, Riyadh, Saudi Arabia Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsSeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, I-16147 Genoa, Italy Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsFukata, Masaki论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Nat Sci, Natl Inst Physiol Sci, Dept Mol & Cellular Physiol, Div Membrane Physiol, Okazaki, Aichi 4448787, Japan SOKENDAI Grad Univ Adv Studies, Sch Life Sci, Dept Physiol Sci, Okazaki, Aichi 4448585, Japan Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHilhorst-Hofstee, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, K5S,POB 9600, NL-2300 RC Leiden, Netherlands Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, NetherlandsHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Erasmus MC, Sophia Childrens Hosp, Dept Child Neurol, NL-3015 CN Rotterdam, Netherlands
- [3] Mucolipidosis and progressive myoclonus epilepsy: A distinctive phenotypeNEUROLOGY INDIA, 2013, 61 (05) : 537 - U101Menon, Ramshekhar N.论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, IndiaJagtap, Sujith论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, IndiaThakkar, Ravindra论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurol Sci, Dept Neuropathol, Bengaluru, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, IndiaNarayanappa, Gayathri论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurol Sci, Dept Neuropathol, Bengaluru, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, IndiaNair, Muralidharan论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum, Kerala, India
- [4] NEXMIF Epilepsy An Alternative Cause of Progressive MyoclonusNEUROLOGY, 2023, 100 (14) : 672 - 673Chorny, Lauren E.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Dept Pediat, Jacksonville, FL 32610 USA Univ Florida, Coll Med, Dept Pediat, Jacksonville, FL 32610 USANordli, Douglas R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med & Hlth Sci, Dept Child & Adolescent Neurol, Jacksonville, FL USA Univ Florida, Coll Med, Dept Pediat, Jacksonville, FL 32610 USAGalan, Fernando论文数: 0 引用数: 0 h-index: 0机构: Nemours Childrens Hlth, Dept Child & Adolescent Neurol, Jacksonville, FL USA Univ Florida, Coll Med, Dept Pediat, Jacksonville, FL 32610 USA
- [5] Mutations in NHLRC1 cause progressive myoclonus epilepsyNature Genetics, 2003, 35 : 125 - 127Elayne M Chan论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsEdwin J Young论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsLeonarda Ianzano论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsIulia Munteanu论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsXiaochu Zhao论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsConstantine C Christopoulos论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsGiuliano Avanzini论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsMaurizio Elia论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsCameron A Ackerley论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsNebojsa J Jovic论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsSaeed Bohlega论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsEva Andermann论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsGuy A Rouleau论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsAntonio V Delgado-Escueta论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsBerge A Minassian论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical GeneticsStephen W Scherer论文数: 0 引用数: 0 h-index: 0机构: Program in Genetics and Genomic Biology,Department of Molecular and Medical Genetics
- [6] Mutations in NHLRC1 cause progressive myoclonus epilepsyNATURE GENETICS, 2003, 35 (02) : 125 - 127Chan, EM论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaYoung, EJ论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaIanzano, L论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaMunteanu, I论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaZhao, XC论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaChristopoulos, CC论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaAvanzini, G论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaElia, M论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaAckerley, CA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaJovic, NJ论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaBohlega, S论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaAndermann, E论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaRouleau, GA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaDelgado-Escueta, AV论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaMinassian, BA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaScherer, SW论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada
- [7] Leukoencephalopathy with vanishing white matter as a cause of progressive myoclonus epilepsyNEUROLOGY, 2007, 68 (12) : A73 - A73Jansen, Anna论文数: 0 引用数: 0 h-index: 0Niel, Florence论文数: 0 引用数: 0 h-index: 0Crevaux, Isabelle论文数: 0 引用数: 0 h-index: 0Tanguy, Odile Boespflug论文数: 0 引用数: 0 h-index: 0Andermann, Eva论文数: 0 引用数: 0 h-index: 0Andermann, Frederick论文数: 0 引用数: 0 h-index: 0
- [8] Leucoencephalopathy with vanishing white matter as a cause of progressive myoclonus epilepsyJOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S90 - S90Jansen, A论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 2T5, CanadaCrévaux, I论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 2T5, CanadaAndermann, E论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 2T5, CanadaBoespflug-Tanguy, O论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 2T5, Canada
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