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- [31] A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismneurogenetics, 2015, 16 : 65 - 67Michael J. Keogh论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineD. Daud论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineA. Pyle论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineJ. Duff论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineH. Griffin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineL. He论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineC. L. Alston论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineH. Steele论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineS. Taggart论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineA. P. Basu论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineR. W. Taylor论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineR. Horvath论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicineV. Ramesh论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic MedicinePatrick F. Chinnery论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine
- [32] A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismNEUROGENETICS, 2015, 16 (01) : 65 - 67Keogh, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDaud, D.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPyle, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandGriffin, J. Duff H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHe, L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAlston, C. L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSteele, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandTaggart, S.论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Dept Neurophysiol, Middlesbrough TS4 3BW, Cleveland, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBasu, A. P.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Pediat Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Sch Med, Inst Neurosci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandTaylor, R. W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHorvath, R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRamesh, V.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Pediat Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [33] PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian FamilyMOVEMENT DISORDERS, 2016, 31 (05) : 765 - 767Quadri, Marialuisa论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsOlgiati, Simone论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsSensi, Mariachiara论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Arcispedale S Anna, Dept Neurol & Rehabil, Ferrara, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsGualandi, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp S Anna, Dept Reprod & Growth, UOL Med Genet, Ferrara, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsGroppo, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Arcispedale S Anna, Dept Biomed & Specialist Surg Sci, Ferrara, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsRispoli, Vittorio论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Arcispedale S Anna, Dept Biomed & Specialist Surg Sci, Ferrara, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsGraafland, Josja论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsBreedveld, Guido J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsFabbrini, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Neurol & Psychiat, Pozzilli, Italy IRCSS Neuromed, Pozzilli, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsBerardelli, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Neurol & Psychiat, Pozzilli, Italy IRCSS Neuromed, Pozzilli, Italy Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, NetherlandsBonifati, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands
- [34] Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismPARKINSONISM & RELATED DISORDERS, 2019, 61 : 207 - 210Manti, Filippo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyNardecchia, Francesca论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyBarresi, Sabina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyVenditti, Martina论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyPizzi, Simone论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyHamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Dept Pediat, Mol Diagnost Lab, Montreal, PQ, Canada CHU St Justine, Dept Pediat, Div Med Genet, Montreal, PQ, Canada Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyBlau, Nenad论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Dietmar Hopp Metab Ctr, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Heidelberg, Germany Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyBurlina, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Dept Paediat, Div Inherited Metab Dis, Padua, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, ItalyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, Italy Sapienza Univ, Unit Child Neurol & Psychiat, Dept Human Neurosci, Rome, Italy
- [35] Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T)JOURNAL OF ALZHEIMERS DISEASE, 2019, 71 (01) : 7 - 13Jo, Hyunjin论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaKim, Minkyeong论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaPark, Seongbeom论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea论文数: 引用数: h-index:机构:Cho, Soo Hyun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Chonnam Natl Univ, Chonnam Natl Univ Hosp, Dept Neurol, Med Sch, Gwangju, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Jung, Yong Hee论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaKim, Junpyo论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaNa, Duk L.论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Dept Hlth Sci & Technol, SAIHST, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaSeo, Sang Won论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Dept Clin Res Design & Evaluat, SAIHST, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaCho, Jin Whan论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South KoreaKim, Hee Jin论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea Samsung Med Ctr, Neurosci Ctr, Seoul, South Korea Samsung Med Ctr, Samsung Alzheimer Res Ctr, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, 50 Ilwon Dong, Seoul 135710, South Korea
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- [40] PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case reportPARKINSONISM & RELATED DISORDERS, 2024, 124Yau, Wai Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perron Inst Neurol & Translat Sci, Nedlands, WA 6009, Australia Perron Inst Neurol & Translat Sci, QE II Med Ctr, Ground RR Block,Ralph & Patricia Sarich Neurosci B, Nedlands, WA 6009, Australia Univ Western Australia, Perron Inst Neurol & Translat Sci, Nedlands, WA 6009, AustraliaVijayan, Srimathy论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perron Inst Neurol & Translat Sci, Nedlands, WA 6009, Australia Univ Western Australia, Perron Inst Neurol & Translat Sci, Nedlands, WA 6009, AustraliaRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Ctr Med Res, QEII Med Ctr, Nedlands, WA, Australia Univ Western Australia, Perron Inst Neurol & Translat Sci, Nedlands, WA 6009, Australia