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- [21] Parkinsonism in GTP cyclohydrolase 1 mutation carriersBRAIN, 2015, 138 : E349 - U12Guella, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, CanadaSherman, Holly E.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, CanadaAppel-Cresswell, Silke论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Neurol, Pacific Parkinsons Res Ctr, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, CanadaRajput, Alex论文数: 0 引用数: 0 h-index: 0机构: Univ Saskatchewan, Div Neurol, Saskatoon, SK, Canada Saskatoon Hlth Reg, Saskatoon, SK, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, CanadaRajput, Ali H.论文数: 0 引用数: 0 h-index: 0机构: Univ Saskatchewan, Div Neurol, Saskatoon, SK, Canada Saskatoon Hlth Reg, Saskatoon, SK, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, CanadaFarrer, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada
- [22] COMBINED ASSESSMENT OF GCASE ACTIVITY AND α-SYNUCLEIN AS A PROMISING BLOOD BIOMARKER FOR GBA MUTATION CARRIERSPARKINSONISM & RELATED DISORDERS, 2024, 122Pasquini, C.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Pavia, Italy IRCCS Mondino Fdn, Pavia, Italy论文数: 引用数: h-index:机构:Caminiti, S. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy IRCCS Mondino Fdn, Pavia, ItalyCerri, S.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Pavia, Italy IRCCS Mondino Fdn, Pavia, ItalyGegg, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England IRCCS Mondino Fdn, Pavia, ItalyToffoli, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England IRCCS Mondino Fdn, Pavia, ItalyOngari, G.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Pavia, Italy IRCCS Mondino Fdn, Pavia, ItalyHughes, D.论文数: 0 引用数: 0 h-index: 0机构: UCL, Lysosomal Storage Disorders Unit, Royal Free Hosp, London, England Dept Haematol, London, England IRCCS Mondino Fdn, Pavia, ItalyCerami, C.论文数: 0 引用数: 0 h-index: 0机构: Scuola Univ Super IUSS Pavia, Pavia, Italy IRCCS Mondino Fdn, Pavia, ItalyCrespi, C.论文数: 0 引用数: 0 h-index: 0机构: Scuola Univ Super IUSS Pavia, Pavia, Italy IRCCS Mondino Fdn, Pavia, Italy论文数: 引用数: h-index:机构:Schapira, A. H. V.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England Aligning Sci Parkinsons ASAP Collaborat Res Netwo, Chevy Chase, MD USA IRCCS Mondino Fdn, Pavia, ItalyBlandini, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Osped Maggiore Policlin, Ca Granda IRCCS Fdn, Milan, Italy IRCCS Mondino Fdn, Pavia, Italy
- [23] Gait Analysis of GBA Mutation Carriers with Parkinson's DiseaseNEUROLOGY, 2019, 92 (15)Gera, Anjali论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Med Ctr, Chicago, IL 60612 USA Rush Univ, Med Ctr, Chicago, IL 60612 USAO'Keefe, Joan论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Med Ctr, Chicago, IL 60612 USA Rush Univ, Med Ctr, Chicago, IL 60612 USAOuyang, Bichun论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Med Ctr, Chicago, IL 60612 USA Rush Univ, Med Ctr, Chicago, IL 60612 USA论文数: 引用数: h-index:机构:
- [24] A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation CarriersSTEM CELL REPORTS, 2017, 8 (03): : 728 - 742Yang, Shi-Yu论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, EnglandBeavan, Michelle论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, EnglandChau, Kai-Yin论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, EnglandTaanman, Jan-Willem论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, EnglandSchapira, Anthony H. V.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England UCL Inst Neurol, Dept Clin Neurosci, Rowland Hill St, London NW3 2PF, England
- [25] GBA1 mutational spectrum in the Republic of Macedonia and a report of a novel de novo mutationEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1338 - 1339Ajdarche, H.论文数: 0 引用数: 0 h-index: 0机构: Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, MacedoniaVujovic, M.论文数: 0 引用数: 0 h-index: 0机构: Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, MacedoniaJakimovska, M.论文数: 0 引用数: 0 h-index: 0机构: Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, MacedoniaStojanovski, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Ss Cyril & Methodius, Fac Med, Univ Clin Hematol, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, MacedoniaKaranfilski, O.论文数: 0 引用数: 0 h-index: 0机构: Univ Ss Cyril & Methodius, Fac Med, Univ Clin Hematol, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, MacedoniaMartinova, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Ss Cyril & Methodius, Fac Med, Univ Pediat Clin, Skopje, Macedonia Macedonian Acad Sci & Arts, RCGEB Georgi Efremov, Skopje, Macedonia论文数: 引用数: h-index:机构:
- [26] Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's DiseaseMOVEMENT DISORDERS, 2023, 38 (11) : 2137 - 2139Toffoli, Marco论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England Aligning Sci Parkinsons Collaborat Res Network, Chevy Chase, MD USA UCL, Dept Clin & Movement Neurosci, Inst Neurol, Rowland Hill St, London NW3 2PF, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, EnglandSchapira, Anthony H. V.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England Aligning Sci Parkinsons Collaborat Res Network, Chevy Chase, MD USA UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, EnglandProukakis, Christos论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England Aligning Sci Parkinsons Collaborat Res Network, Chevy Chase, MD USA UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
- [27] Prodromal parkinsonian features in carriers of variants in GBA1: Who is at risk for developing Sidransky syndrome?MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)Becker-Cohen, Michal论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelRevel-Vilk, Shoshana论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelFrydman, Dafna论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelDinur, Tama论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelTiomkin, Ma'ayan论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelArbel, Naama论文数: 0 引用数: 0 h-index: 0机构: Medison Pharm, Petah Tiqwa, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, IsraelZimran, Ari论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Jerusalem, Israel
- [28] The neurobiology of glucocerebrosidase associated PD: studies of dopamine synthesis and rCBF in GBA mutation carriers with and without parkinsonismMOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S41 - S42Sidransky, Ellen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAOzlem, Goker-Alpan论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAMasdeu, Joseph论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAKohn, Phillip论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USALopez, Grisel论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAEisenberg, Daniel论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAGroden, Catherine论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAChaflin, M.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAIanni, Angela论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USABerman, Karen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USASidransky, Ellen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
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- [30] Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial surveyPARKINSONISM & RELATED DISORDERS, 2025, 130Zhang, Xuxiang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaZhao, Yuwen论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaJiang, Li论文数: 0 引用数: 0 h-index: 0机构: Univ South China, Affiliated Hosp 1, Hengyang Med Sch, Dept Neurol, Hengyang 421000, Hunan, Peoples R China Univ South China, Affiliated Hosp 1, Multi Res Ctr Brain Disorders, Hengyang Med Sch, Hengyang 421000, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaHu, Yuxuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLiu, Zhenhua论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410008, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaXu, Qian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaWang, Chunyu论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLei, Lifang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLi, Peishan论文数: 0 引用数: 0 h-index: 0机构: Xinjiang Med Univ, Dept Neurol, Affiliated Hosp 2, Urumqi 830054, Xinjiang, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaTan, Zhihui论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaWu, Heng论文数: 0 引用数: 0 h-index: 0机构: Univ South China, Affiliated Hosp 1, Hengyang Med Sch, Dept Neurol, Hengyang 421000, Hunan, Peoples R China Univ South China, Affiliated Hosp 1, Multi Res Ctr Brain Disorders, Hengyang Med Sch, Hengyang 421000, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaShen, Lu论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegener, Changsha 410008, Hunan, Peoples R China Engn Res Ctr Hunan Prov Cognit Impairment Disorder, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaJiang, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410008, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410008, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegener, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaYan, Xinxiang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaTang, Beisha论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Univ South China, Affiliated Hosp 1, Hengyang Med Sch, Dept Neurol, Hengyang 421000, Hunan, Peoples R China Univ South China, Affiliated Hosp 1, Multi Res Ctr Brain Disorders, Hengyang Med Sch, Hengyang 421000, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410008, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegener, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaGuo, Jifeng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410008, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China Xinjiang Med Univ, Dept Neurol, Affiliated Hosp 2, Urumqi 830054, Xinjiang, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegener, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China