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- [21] Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's crampMOVEMENT DISORDERS, 1998, 13 (03) : 497 - 508Odergren, T论文数: 0 引用数: 0 h-index: 0机构: Karolinska Hosp, Dept Clin Neurosci, Neurol Sect, S-17176 Stockholm, Sweden Karolinska Hosp, Dept Clin Neurosci, Neurol Sect, S-17176 Stockholm, SwedenStone-Elander, S论文数: 0 引用数: 0 h-index: 0机构: Karolinska Hosp, Dept Clin Neurosci, Neurol Sect, S-17176 Stockholm, SwedenIngvar, M论文数: 0 引用数: 0 h-index: 0机构: Karolinska Hosp, Dept Clin Neurosci, Neurol Sect, S-17176 Stockholm, Sweden
- [22] PREVALENCE AND NEUROIMAGING CORRELATES OF CENTRAL ATAXIA IN CHILDHOOD-ONSET SYSTEMIC LUPUS ERYTHEMATOSUSANNALS OF THE RHEUMATIC DISEASES, 2015, 74 : 1240 - 1240Lapa, A. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Pediat, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilBarbosa, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Med, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilMendonOa, I. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Med, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilSouza, M. C. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Pediat, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilPeres, F. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Med, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilMarini, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Pediat, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilRittner, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Fac Eletr Engn, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilFranca, M., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Neurol, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilBergo, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Neurol, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilCendes, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Neurol, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, BrazilAppenzeller, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Med, Campinas, SP, Brazil Univ Estadual Campinas, Pediat, Campinas, SP, Brazil
- [23] ATP1A3-related neurological disorders and cerebellar ataxia in childhoodDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (01): : 12 - 13Ng, Joanne论文数: 0 引用数: 0 h-index: 0机构: UCL, Gene Transfer Technol Grp, EGA Inst Womens Hlth, London, England UCL, Gene Transfer Technol Grp, EGA Inst Womens Hlth, London, England
- [24] Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsyOPHTHALMIC GENETICS, 2019, 40 (04) : 376 - 379Vedartham, Veena论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, IndiaSundaram, Soumya论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, IndiaNair, Sruthi S.论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, IndiaGanapathy, Aparna论文数: 0 引用数: 0 h-index: 0机构: Strand Ctr Genom & Personalized Med, Dept Clin Genom, Bangalore, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, IndiaMannan, Ashraf论文数: 0 引用数: 0 h-index: 0机构: Strand Ctr Genom & Personalized Med, Dept Clin Genom, Bangalore, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, IndiaMenon, Ramshekhar论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Trivandrum 695011, Kerala, India
- [25] HomozygousTAF1Cvariants are associated with a novel childhood-onset neurological phenotypeCLINICAL GENETICS, 2020, 98 (05) : 493 - 498论文数: 引用数: h-index:机构:Pyle, Angela论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England Univ Oulu, PEDEGO Res Unit, Oulu, FinlandSuo-Palosaari, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Med Res Ctr, Oulu, Finland Oulu Univ Hosp, Dept Diagnost Radiol, Res Unit Med Imaging Phys & Technol, Oulu, Finland Univ Oulu, Oulu, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandDuff, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England Univ Oulu, PEDEGO Res Unit, Oulu, FinlandFroukh, Tawfiq论文数: 0 引用数: 0 h-index: 0机构: Philadelphia Univ, Dept Biotechnol & Genet Engn, Amman, Jordan Univ Oulu, PEDEGO Res Unit, Oulu, FinlandLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Med, Helsinki, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandKangas, Salla M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr, Oulu, Finland Univ Oulu, Bioctr Oulu, Oulu, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandCassidy, James论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England Univ Oulu, PEDEGO Res Unit, Oulu, FinlandMaraqa, Latifa论文数: 0 引用数: 0 h-index: 0机构: PKU & Genet Consultat Clin, Amman, Jordan Univ Oulu, PEDEGO Res Unit, Oulu, FinlandKeski-Filppula, Riikka论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr, Oulu, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandKokkonen, Hannaleena论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Northern Finland Lab Ctr, NordLab, Oulu, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandUusimaa, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr, Oulu, Finland Oulu Univ Hosp, Clin Children & Adolescents, POB 23, Oulu 90029, Finland Univ Oulu, PEDEGO Res Unit, Oulu, FinlandHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Neurosci, Cambridge, England Univ Oulu, PEDEGO Res Unit, Oulu, FinlandVieira, Paivi论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr, Oulu, Finland Oulu Univ Hosp, Clin Children & Adolescents, POB 23, Oulu 90029, Finland Univ Oulu, PEDEGO Res Unit, Oulu, Finland
- [26] TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseNature Communications, 14 (1)Lindsey Van Haute论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitEmily O’Connor论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitHéctor Díaz-Maldonado论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitBenjamin Munro论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitKiran Polavarapu论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitDaniella H. Hock论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitGautham Arunachal论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitAlkyoni Athanasiou-Fragkouli论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitMainak Bardhan论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitMagalie Barth论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitDominique Bonneau论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitNicola Brunetti-Pierri论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitGerarda Cappuccio论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitNikeisha J. Caruana论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitNatalia Dominik论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitHimanshu Goel论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitGuy Helman论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitHenry Houlden论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitGuy Lenaers论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitKarine Mention论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitDavid Murphy论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitBevinahalli Nandeesh论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitCatarina Olimpio论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitChristopher A. Powell论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitVeeramani Preethish-Kumar论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitVincent Procaccio论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitRocio Rius论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitPedro Rebelo-Guiomar论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitCas Simons论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitSeena Vengalil论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitMaha S. Zaki论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitAlban Ziegler论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitDavid R. Thorburn论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitDavid A. Stroud论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitReza Maroofian论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitJohn Christodoulou论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitClaes Gustafsson论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitAtchayaram Nalini论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitHanns Lochmüller论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitMichal Minczuk论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology UnitRita Horvath论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,MRC Mitochondrial Biology Unit
- [27] TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseNATURE COMMUNICATIONS, 2023, 14 (01)论文数: 引用数: h-index:机构:O'Connor, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandDiaz-Maldonado, Hector论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Dept Biochem & Cell Biol, SE-40530 Gothenburg, Sweden Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandMunro, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandPolavarapu, Kiran论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandHock, Daniella H.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Bio21 Mol Sci & Biotechnol Inst, Dept Biochem & Pharmacol, 30 Flemington Rd, Parkville, Vic 3052, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandArunachal, Gautham论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Human Genet, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandAthanasiou-Fragkouli, Alkyoni论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, UCL London, London, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandBardhan, Mainak论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandBarth, Magalie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, CNRS 6015, Mitovasc INSERM 1083, Dept Genet, Angers, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandBonneau, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, CNRS 6015, Mitovasc INSERM 1083, Dept Genet, Angers, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandBrunetti-Pierri, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med, Via S Pansini 5, I-80131 Naples, Italy Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandCappuccio, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med, Via S Pansini 5, I-80131 Naples, Italy Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandCaruana, Nikeisha J.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Bio21 Mol Sci & Biotechnol Inst, Dept Biochem & Pharmacol, 30 Flemington Rd, Parkville, Vic 3052, Australia Victoria Univ, Inst Hlth & Sport IHES, Melbourne, Vic 3011, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, UCL London, London, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England论文数: 引用数: h-index:机构:Helman, Guy论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, UCL London, London, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandLenaers, Guy论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, CNRS 6015, Mitovasc INSERM 1083, Dept Genet, Angers, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandMention, Karine论文数: 0 引用数: 0 h-index: 0机构: Hop Jeanne Flandre, Pediat Inherited Metab Disorders, Lille, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandMurphy, David论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, UCL London, London, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandNandeesh, Bevinahalli论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandOlimpio, Catarina论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandPowell, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandPreethish-Kumar, Veeramani论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandProcaccio, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, CNRS 6015, Mitovasc INSERM 1083, Dept Genet, Angers, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandRius, Rocio论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England论文数: 引用数: h-index:机构:Simons, Cas论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandVengalil, Seena论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Div, Clin Genet Dept, Cairo 12311, Egypt Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandZiegler, Alban论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, CNRS 6015, Mitovasc INSERM 1083, Dept Genet, Angers, France Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandThorburn, David R.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandStroud, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Bio21 Mol Sci & Biotechnol Inst, Dept Biochem & Pharmacol, 30 Flemington Rd, Parkville, Vic 3052, Australia Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, UCL London, London, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England论文数: 引用数: h-index:机构:Gustafsson, Claes论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Dept Biochem & Cell Biol, SE-40530 Gothenburg, Sweden Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandNalini, Atchayaram论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, EnglandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England论文数: 引用数: h-index:机构:Horvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge CB2 0XY, England
- [28] Increased Cerebellar Grey Matter in Writer's Cramp Patients: A Morphometric Signature of Symptom CompensationMOVEMENT DISORDERS, 2024, 39 : S661 - S662Witt, K.论文数: 0 引用数: 0 h-index: 0Yogeswaran, V.论文数: 0 引用数: 0 h-index: 0Stalter, J.论文数: 0 引用数: 0 h-index: 0Knutzen, A.论文数: 0 引用数: 0 h-index: 0Baumann, A.论文数: 0 引用数: 0 h-index: 0Zeuner, K.论文数: 0 引用数: 0 h-index: 0
- [29] TPP1 DEFICIENCY: RARE CAUSE OF ISOLATED CHILDHOOD-ONSET PROGRESSIVE ATAXIANEUROLOGY, 2015, 85 (14) : 1259 - 1261Dy, Marisela E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Massachusetts Gen Hosp, Boston Childrens Hosp, Cambridge, MA 02138 USA Univ Calif San Diego, Rady Childrens Hosp, San Diego, CA 92103 USA Harvard Univ, Sch Med, Massachusetts Gen Hosp, Boston Childrens Hosp, Cambridge, MA 02138 USASims, Katherine B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Gen Hosp, Sch Med, Boston, MA USA Harvard Univ, Sch Med, Massachusetts Gen Hosp, Boston Childrens Hosp, Cambridge, MA 02138 USAFriedman, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Rady Childrens Hosp, San Diego, CA 92103 USA Harvard Univ, Sch Med, Massachusetts Gen Hosp, Boston Childrens Hosp, Cambridge, MA 02138 USA
- [30] A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5MOVEMENT DISORDERS, 2022, 37 : S214 - S214Park, J.论文数: 0 引用数: 0 h-index: 0Seok, J.论文数: 0 引用数: 0 h-index: 0