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- [21] Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?Journal of Human Genetics, 2012, 57 : 283 - 285Shweta Singh论文数: 0| 引用数: 0| h-index: 0|机构: International Medical University,Department of Human BiologySubramaniam Ganesh论文数: 0| 引用数: 0| h-index: 0|机构: International Medical University,Department of Human Biology
- [22] SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (09) : 2456 - 2460Ranza, Emmanuelle论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandGarcia-Tarodo, Stephanie论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Neurol Unit, 6 Rue Willy Donze, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandVarvagiannis, Konstantinos论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandGuipponi, Michel论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandLobrinus, Johannes A.论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Clin Pathol, Neuropathol Unit, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandBottani, Armand论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandKern, Ilse论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Metab Unit, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandKurian, Mary论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Neurol Unit, 6 Rue Willy Donze, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandPittet, Marie-Pascale论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Neurol Unit, 6 Rue Willy Donze, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandAntonarakis, Stylianos E.论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Fac Med, Geneva, Switzerland IGE3 Inst Genet & Genom Geneva, Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandFluss, Joel论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Neurol Unit, 6 Rue Willy Donze, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, SwitzerlandKorff, Christian M.论文数: 0| 引用数: 0| h-index: 0|机构: Geneva Univ Hosp, Dept Child & Adolescent, Pediat Neurol Unit, 6 Rue Willy Donze, CH-1205 Geneva, Switzerland Geneva Univ Hosp, Serv Genet Med, Geneva, Switzerland
- [23] Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (05): : 610 - 627论文数: | 引用数: | h-index: |机构:Mitani, Tadahiro论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAIsikay, Sedat论文数: 0| 引用数: 0| h-index: 0|机构: Hasan Kalyoncu Univ, Sch Hlth Sci, Dept Physiotherapy & Rehabil, TR-27000 Gaziantep, Turkey Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAHertecant, Jozef论文数: 0| 引用数: 0| h-index: 0|机构: Tawam Hosp, Pediat Metab & Genet Div, Abu Dhabi, U Arab Emirates Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAAlmannai, Mohammed论文数: 0| 引用数: 0| h-index: 0|机构: Childrens Hosp, Sect Med Genet, King Fahad Med City, Riyadh 11525, Saudi Arabia Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAManickam, Kandamurugu论文数: 0| 引用数: 0| h-index: 0|机构: Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAAbou Jamra, Rami论文数: 0| 引用数: 0| h-index: 0|机构: Univ Med Ctr Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAEl-Hattab, Ayman W.论文数: 0| 引用数: 0| h-index: 0|机构: Univ Sharjah, Coll Med, Dept Clin Sci, U, Sharjah 27272, U Arab Emirates Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USARajah, Jaishen论文数: 0| 引用数: 0| h-index: 0|机构: SKMC, POB 51900, Abu Dhabi, U Arab Emirates Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAFatih, Jawid M.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USADu, Haowei论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAKaraca, Ender论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USABayram, Yavuz论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAPunetha, Jaya论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USARosenfeld, Jill A.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAJhangiani, Shalini N.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USABoerwinkle, Eric论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAAkdemir, Zeynep C.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAErdin, Serkan论文数: 0| 引用数: 0| h-index: 0|机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAHunter, Jill, V论文数: 0| 引用数: 0| h-index: 0|机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAGibbs, Richard A.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAPehlivan, Davut论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol & Dev Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USAPosey, Jennifer E.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USALupski, James R.论文数: 0| 引用数: 0| h-index: 0|机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Room 604B, Houston, TX 77030 USA
- [24] Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus EpilepsyNEUROLOGY-GENETICS, 2024, 10 (04)Arroyo, Monica S.论文数: 0| 引用数: 0| h-index: 0|机构: Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USA Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USAFuller, Christine论文数: 0| 引用数: 0| h-index: 0|机构: Upstate Med Univ, Div Pathol, Syracuse, NY USA Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH USA Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USASchorry, Elizabeth K.论文数: 0| 引用数: 0| h-index: 0|机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH USA Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45267 USA Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USAUlm, Elizabeth论文数: 0| 引用数: 0| h-index: 0|机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH USA Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USATian, Cuixia论文数: 0| 引用数: 0| h-index: 0|机构: Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH 45267 USA Joe DiMaggio Childrens Hosp, Div Neurol, Hollywood, FL USA
- [25] Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyNature Genetics, 1998, 20 : 171 - 174Berge A. Minassian论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsJeffrey R. Lee论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsJo-Anne Herbrick论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsJack Huizenga论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsSylvia Soder论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsAndrew J. Mungall论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsIan Dunham论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsRebecca Gardner论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsChung-yan G. Fong论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsStirling Carpenter论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsLaura Jardim论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsP. Satishchandra论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsEva Andermann论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsO. Carter Snead论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsIscia Lopes-Cendes论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsLap-Chee Tsui论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsAntonio V. Delgado-Escueta论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsGuy A. Rouleau论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of PaediatricsStephen W. Scherer论文数: 0| 引用数: 0| h-index: 0|机构: The Hospital for Sick Children,Department of Genetics, Department of Paediatrics
- [26] CLN6 MUTATIONS CAUSE TEENAGE-ONSET PROGRESSIVE MYOCLONUS EPILEPSYEPILEPSIA, 2013, 54 : 296 - 297Andrade, D. M.论文数: 0| 引用数: 0| h-index: 0|机构: Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaPaton, T.论文数: 0| 引用数: 0| h-index: 0|机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaTurnball, J.论文数: 0| 引用数: 0| h-index: 0|机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaKlein, C.论文数: 0| 引用数: 0| h-index: 0|机构: Med Univ Lubeck, Sect Clin & Mol Neurogenet, Dept Neurol, D-23538 Lubeck, Germany Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaMarshall, C. R.论文数: 0| 引用数: 0| h-index: 0|机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaScherer, S. W.论文数: 0| 引用数: 0| h-index: 0|机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, CanadaMinassian, B. A.论文数: 0| 引用数: 0| h-index: 0|机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Neurol, Toronto, ON M5G 1X8, Canada Univ Toronto, Univ Hlth Network, Dept Neurol, Toronto, ON, Canada
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- [28] The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variantsSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2017, 53 : 86 - 93d'Orsi, Giuseppe论文数: 0| 引用数: 0| h-index: 0|机构: Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyMartino, Tommaso论文数: 0| 引用数: 0| h-index: 0|机构: Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyPalumbo, Orazio论文数: 0| 引用数: 0| h-index: 0|机构: IRCCS Casa Sollievo Sofferenza, Med Genet Units, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyPascarella, Maria Grazia论文数: 0| 引用数: 0| h-index: 0|机构: Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyPalumbo, Pietro论文数: 0| 引用数: 0| h-index: 0|机构: IRCCS Casa Sollievo Sofferenza, Med Genet Units, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyDi Claudio, Maria Teresa论文数: 0| 引用数: 0| h-index: 0|机构: Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyAvolio, Carlo论文数: 0| 引用数: 0| h-index: 0|机构: Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, ItalyCarella, Massimo论文数: 0| 引用数: 0| h-index: 0|机构: IRCCS Casa Sollievo Sofferenza, Med Genet Units, Foggia, Italy Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy
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- [30] A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1European Journal of Human Genetics, 2019, 27 : 337 - 339Nadine AME van der Beek论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesIsabelle Nelson论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesRoseline Froissart论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesThierry Levade论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesVirginie Garcia论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesEmmanuelle Lacene论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesAnne Boland论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesCécile Masson论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesNorma B. Romero论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesTanya Stojkovic论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesGisèle Bonne论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic DiseasesAnthony Béhin论文数: 0| 引用数: 0| h-index: 0|机构: Erasmus MC University Medical Center,Department of Neurology, Center for Lysosomal and Metabolic Diseases