共 50 条
- [1] Gene defects in progressive myoclonus epilepsyEPILEPSIA, 2010, 51 : 75 - 75Serratosa, Jose M.论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Neurol Serv, E-28040 Madrid, Spain CIBERER, Madrid, Spain Fdn Jimenez Diaz, Neurol Serv, E-28040 Madrid, SpainMinassian, Berge A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada Fdn Jimenez Diaz, Neurol Serv, E-28040 Madrid, SpainGanesh, Subramaniam论文数: 0 引用数: 0 h-index: 0机构: Indian Inst Technol, Kanpur 208016, Uttar Pradesh, India Fdn Jimenez Diaz, Neurol Serv, E-28040 Madrid, Spain
- [2] Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardationJournal of Neurology, 2005, 252 : 897 - 900Giovanni Coppola论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheChiara Criscuolo论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheGiuseppe De Michele论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheSalvatore Striano论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheFabrizio Barbieri论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologichePasquale Striano论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheAnna Perretti论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheLucio Santoro论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheVincenzo Brescia Morra论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheFrancesco Saccà论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheValentina Scarano论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheAdamo P. D’Adamo论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheSandro Banfi论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologichePaolo Gasparini论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheFilippo M. Santorelli论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheAnna E. Lehesjoki论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze NeurologicheAlessandro Filla论文数: 0 引用数: 0 h-index: 0机构: Università degli Studi di Napoli Federico II,Dipartimento di Scienze Neurologiche
- [3] Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardationJOURNAL OF NEUROLOGY, 2005, 252 (08) : 897 - 900Coppola, G论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyCriscuolo, C论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyDe Michele, G论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyStriano, S论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyBarbieri, F论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyStriano, P论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyPerretti, A论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalySantoro, L论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyMorra, VB论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalySaccà, F论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyScarano, V论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyD'Adamo, A论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyBanfi, S论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyGasparini, P论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalySantorelli, FM论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyLehesjoki, AE论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, ItalyFilla, A论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy
- [4] Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxiaHUMAN MOLECULAR GENETICS, 2015, 24 (16) : 4483 - 4490Damiano, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaAfawi, Zaid论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaBahlo, Melanie论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Bioinformat Div, Melbourne, Vic 3050, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaMauermann, Monika论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, Div Mol Genet, Heidelberg, Germany Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaMisk, Adel论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Dept Neurol, Jerusalem, Israel Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaArsov, Todor论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaOliver, Karen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaDahl, Hans-Henrik M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaShearer, A. Eliot论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaSmith, Richard J. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaHall, Nathan E.论文数: 0 引用数: 0 h-index: 0机构: VLSCI, Life Sci Computat Ctr, Melbourne, Vic, Australia La Trobe Univ, La Trobe Inst Mol Sci, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaMahmood, Khalid论文数: 0 引用数: 0 h-index: 0机构: VLSCI, Life Sci Computat Ctr, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaLeventer, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaMuona, Mikko论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Inst Mol Med, Neurosci Ctr, Helsinki, Finland Univ Helsinki, Res Programs Unit, Mol Neurol, Helsinki, Finland Folkhalsan Inst Genet, Helsinki, Finland Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia论文数: 引用数: h-index:机构:Korczyn, Amos D.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaHerrmann, Harald论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, Div Mol Genet, Heidelberg, Germany Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaBerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, AustraliaHildebrand, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Austin, Vic 3084, Australia
- [5] PATHOPHYSIOLOGY OF THE SHORT-LATENCY CORTICAL REFLEX MYOCLONUS OF PROGRESSIVE MYOCLONUS EPILEPSY AND ATAXIAEPILEPSIA, 1995, 36 : S9 - S9CANTELLO, R论文数: 0 引用数: 0 h-index: 0机构: SCH MED,DEPT NEUROL,NOVARA,ITALY SCH MED,DEPT NEUROL,NOVARA,ITALYGIANELLI, M论文数: 0 引用数: 0 h-index: 0机构: SCH MED,DEPT NEUROL,NOVARA,ITALY SCH MED,DEPT NEUROL,NOVARA,ITALYCIVARDI, C论文数: 0 引用数: 0 h-index: 0机构: SCH MED,DEPT NEUROL,NOVARA,ITALY SCH MED,DEPT NEUROL,NOVARA,ITALYMUTANI, R论文数: 0 引用数: 0 h-index: 0机构: SCH MED,DEPT NEUROL,NOVARA,ITALY SCH MED,DEPT NEUROL,NOVARA,ITALY
- [6] SYNDROME OF PALATAL MYOCLONUS AND PROGRESSIVE ATAXIA - REPORT OF A CASENEUROLOGY, 1986, 36 (10) : 1409 - 1410LEGER, JM论文数: 0 引用数: 0 h-index: 0DUYCKAERTS, C论文数: 0 引用数: 0 h-index: 0BRUNET, P论文数: 0 引用数: 0 h-index: 0
- [7] Identification of COL6A2 mutations in progressive myoclonus epilepsy syndromeHuman Genetics, 2013, 132 : 275 - 283Siamak Karkheiran论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalCatharine E. Krebs论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalVladimir Makarov论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalYalda Nilipour论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalBenjamin Hubert论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalHossein Darvish论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalSteven Frucht论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalGholam Ali Shahidi论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalJoseph D. Buxbaum论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool HospitalCoro Paisán-Ruiz论文数: 0 引用数: 0 h-index: 0机构: Tehran University of Medical Sciences,Movement Disorders Clinic, Hazrat Rasool Hospital
- [8] Identification of COL6A2 mutations in progressive myoclonus epilepsy syndromeHUMAN GENETICS, 2013, 132 (03) : 275 - 283Karkheiran, Siamak论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, Iran Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranKrebs, Catharine E.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranMakarov, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY USA Mt Sinai Sch Med, Dept Psychiat, New York, NY USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranNilipour, Yalda论文数: 0 引用数: 0 h-index: 0机构: Toos Hosp, Myopathol Lab, Dept Pathol, Tehran, Iran Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranHubert, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranDarvish, Hossein论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Dept Clin Genet, Tehran, Iran Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranFrucht, Steven论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Friedman Brain Inst, New York, NY USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, Iran论文数: 引用数: h-index:机构:Buxbaum, Joseph D.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY USA Mt Sinai Sch Med, Dept Psychiat, New York, NY USA Mt Sinai Sch Med, Friedman Brain Inst, New York, NY USA Mt Sinai Sch Med, Dept Neurosci, New York, NY USA Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, IranPaisan-Ruiz, Coro论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Dept Psychiat, New York, NY USA Mt Sinai Sch Med, Friedman Brain Inst, New York, NY USA Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA Univ Tehran Med Sci, Hazrat Rasool Hosp, Movement Disorders Clin, Tehran, Iran
- [9] Identification of a new disease gene causing Lafora progressive myoclonus epilepsy.AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 191 - 191Chan, EM论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaYoung, EJ论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaIanzano, L论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaMunteanu-Oprea, I论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaZhao, X论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaChristopoulos, CC论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaAvanzini, G论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaElia, M论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaAckerley, CA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaJovic, NJ论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaBohlega, S论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaAndermann, E论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaRouleau, GA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, 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, Toronto, ON M5G 1X8, CanadaMinassian, BA论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, CanadaScherer, SW论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada
- [10] CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsyGene Therapy, 2024, 31 : 234 - 241Emrah Gumusgoz论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsSahba Kasiri论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsMayank Verma论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsJun Wu论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsDaniel Villarreal Acha论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsUmmay Marriam论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsSharyl Fyffe-Maricich论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsAmy Lin论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsXin Chen论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsSteven J. Gray论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of PediatricsBerge A. Minassian论文数: 0 引用数: 0 h-index: 0机构: University of Texas Southwestern Medical Center,Division of Neurology, Department of Pediatrics