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- [1] RHOBTB2 gene-related developmental and epileptic encephalopathyJOURNAL OF PEDIATRIC NEUROSCIENCES, 2022, 17 (02) : 183 - 184Panda, Prateek K.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, IndiaPandey, Basant K.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, IndiaPradhan, Amit K.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, IndiaBanu, Rabab论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, IndiaSharawat, Indar K.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India
- [2] RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature reviewACTA EPILEPTOLOGICA, 2021, 3 (01):Niu, Xueyang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaSun, Yan论文数: 0 引用数: 0 h-index: 0机构: Pediat Patientss Hosp Xinjiang Uygur Autonomous Re, Dept Neurol, Urumqi 830001, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaYang, Ying论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaCheng, Miaomiao论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaTan, Quanzhen论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaZhang, Jie论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R ChinaZhang, Yuehua论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China
- [3] Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French GuianaMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (06):Defo, Antoine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Cayenne, Pediat Med & Surg, Cayenne, French Guiana Ctr Hosp Cayenne, Pediat Med & Surg, Cayenne, French GuianaVerloes, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Clin Genet, Paris, France Ctr Hosp Cayenne, Pediat Med & Surg, Cayenne, French GuianaElenga, Narcisse论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Cayenne, Pediat Med & Surg, Cayenne, French Guiana Ctr Hosp Cayenne, Pediat Med & Surg, Cayenne, French Guiana
- [4] RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature reviewActa Epileptologica, 3Xueyang Niu论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsYan Sun论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsYing Yang论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsMiaomiao Cheng论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsQuanzhen Tan论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsJie Zhang论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of PediatricsYuehua Zhang论文数: 0 引用数: 0 h-index: 0机构: Peking University First Hospital,Department of Pediatrics
- [5] Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutationNEUROLOGY-GENETICS, 2020, 6 (03)Knijnenburg, Annemarie C. S.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsNicolai, Joost论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsBok, Levinus A.论文数: 0 引用数: 0 h-index: 0机构: Maxima Med Ctr, Dept Pediat, Veldhoven, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsBay, Akin论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsSinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, NetherlandsVreeburg, Maaike论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands
- [6] Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutationEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1852 - 1853Nicolai, J.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Neurol, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, NetherlandsBay, A.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Clin Genet, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, NetherlandsKnijnenburg, A.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Neurol, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, NetherlandsStegmann, S.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Clin Genet, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, NetherlandsSinnema, M.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Clin Genet, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, NetherlandsVreeburg, M.论文数: 0 引用数: 0 h-index: 0机构: MUMC, Dept Clin Genet, Maastricht, Netherlands MUMC, Dept Neurol, Maastricht, Netherlands
- [7] Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (01) : 44 - 57Straub, Jonas论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyKonrad, Enrico D. H.论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyGruener, Johanna论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyToutain, Annick论文数: 0 引用数: 0 h-index: 0机构: CHU Tours, Serv Genet, F-37044 Tours, France Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyBok, Levinus A.论文数: 0 引用数: 0 h-index: 0机构: Maxima Med Ctr, Dept Pediat, NL-5504 DB Veldhoven, Netherlands Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyCho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyCrawford, Heather P.论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Med Ctr, Clin & Metab Genet, Ft Worth, TX 76102 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyDubbs, Holly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyDouglas, Ganka论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyJobling, Rebekah论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyJohnson, Diana论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens Hosp, Sheffield S10 2TH, S Yorkshire, England Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyKrock, Bryan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyMikati, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Div Pediat Neurol, Durham, NC 27710 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyNesbitt, Addie论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyNicolai, Joost论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Neurol, Med Ctr, NL-6202 AZ Maastricht, Netherlands Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyPhillips, Meredith论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Med Ctr, Clin & Metab Genet, Ft Worth, TX 76102 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyPoduri, Annapurna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA 02115 USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyOrtiz-Gonzalez, Xilma R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Pereleman Sch Med, Philadelphia, PA 19104 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyPowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanySantani, Avni论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanySmith, Lacey论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA 02115 USA Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyStumpel, Constance论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyVreeburg, Maaike论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyFliedner, Anna论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyGregor, Anne论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanySticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Emil Fischer Ctr, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany
- [8] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHUMAN MUTATION, 2018, 39 (08) : 1070 - 1075Belal, Hazrat论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMatsumoto, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanYokochi, Kenji论文数: 0 引用数: 0 h-index: 0机构: Seirei Mikatahara Gen Hosp, Dept Pediat Neurol, Kita Ku, Hamamatsu, Shizuoka, Japan Toyohashi Municipal Hosp, Dept Pediat, Aotake Cho, Toyohashi, Aichi, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanTaniguchi-Ikeda, Mariko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, Chuo Ku, Kobe, Hyogo, Japan Fujita Hlth Univ Hosp, Dept Clin Genet, Toyoake, Aichi, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanAoto, Kazushi论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanAmin, Mohammed Badrul论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan ICDDR B, Enter & Food Microbiol Lab, Dhaka, Bangladesh Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMaruyama, Azusa论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Neurol, Chuo Ku, Kobe, Hyogo, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanNagase, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, Chuo Ku, Kobe, Hyogo, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMizuguchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMiyatake, Satoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanIijima, Kazumoto论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, Chuo Ku, Kobe, Hyogo, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanNonoyama, Shigeaki论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan论文数: 引用数: h-index:机构:
- [9] De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in DrosophilaEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 850 - 851Straub, J.论文数: 0 引用数: 0 h-index: 0机构: FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyKonrad, E. D. H.论文数: 0 引用数: 0 h-index: 0机构: FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyGruener, J.论文数: 0 引用数: 0 h-index: 0机构: FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyToutain, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Tours, Serv Genet, Tours, France FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyBok, L. A.论文数: 0 引用数: 0 h-index: 0机构: Maxima Med Ctr, Dept Pediat, Veldhoven, Netherlands FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyCho, M. T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyCrawford, H. P.论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Med Ctr, Clin & Metab Genet, Ft Worth, TX USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyDubbs, H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyDouglas, G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyJobling, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyJohnson, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Sheffield, S Yorkshire, England FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyKrock, B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyMikati, M. A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Div Pediat Neurol, Durham, NC USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyNesbitt, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyNicolai, J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyPhillips, M.论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Med Ctr, Clin & Metab Genet, Ft Worth, TX USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyPoduri, A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyOrtiz-Gonzales, X. R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Pereleman Sch Med, Philadelphia, PA 19104 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyPowis, Z.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanySantani, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanySmith, L.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA USA FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyStegmann, A. P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, Maastricht, Netherlands FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyStumpel, C.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, Maastricht, Netherlands FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyVreeburg, M.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, Maastricht, Netherlands FAU Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyStudy, D. D. 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