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- [11] Preferential diaphragmatic involvement in TK2 deficiency: an autopsy case studyNEUROMUSCULAR DISORDERS, 2021, 31 : S114 - S114Dominguez-Gonzalez, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainLaine-Menendez, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainDelmiro, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainGarcia-Consuegra, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainFernandez-de la Torre, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainHernandez-Lain, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainSayas, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre, Madrid, Spainde Fuenmayor, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainMartin, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, SpainMoran, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Imas12, Madrid, Spain Hosp Univ 12 Octubre, Madrid, Spain
- [12] Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case StudyINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (11)Laine-Menendez, Sara论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainDominguez-Gonzalez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, U723, Madrid 28029, Spain Hosp 12 Octubre, Neuromuscular Unit, Deparment Neurol, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainBlazquez, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainDelmiro, Aitor论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainGarcia-Consuegra, Ines论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainFernandez-de la Torre, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainHernandez-Lain, Aurelio论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Dept Pathol Neuropathol, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainSayas, Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Dept Pneumol, Ventilat Unit, Madrid 28041, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainMartin, Miguel Angel论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, U723, Madrid 28029, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, SpainMoran, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, U723, Madrid 28029, Spain Hosp 12 Octubre Imas12, Mitochondrial & Neuromuscular Dis Lab, Inst Invest Sanitaria, Madrid 28041, Spain
- [13] Mitochondrial depletion syndrome TK2 deficiency can be treated with oral deoxynucleosidesNEUROMUSCULAR DISORDERS, 2023, 33 : S184 - S184Topaloglu, H.论文数: 0 引用数: 0 h-index: 0机构: Yeditepe Univ, Istanbul, Turkiye Yeditepe Univ, Istanbul, TurkiyeEser, G.论文数: 0 引用数: 0 h-index: 0机构: Yeditepe Univ, Istanbul, Turkiye Yeditepe Univ, Istanbul, TurkiyeYuksel, B.论文数: 0 引用数: 0 h-index: 0机构: Yeditepe Univ, Istanbul, Turkiye Yeditepe Univ, Istanbul, Turkiye
- [14] Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiencyEBIOMEDICINE, 2019, 46 : 356 - 367Lopez-Gomez, Carlos论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA论文数: 引用数: h-index:机构:Sierra, Carlos论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Biomed Engn Ultrasound & Elast, Imaging Lab, New York, NY USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USAAkman, Hasan O.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USASanchez-Quintero, Maria J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USAJuanola-Falgarona, Marti论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USATadesse, Saba论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USATanji, Kurenai论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USAKonofagou, Elisa E.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Biomed Engn Ultrasound & Elast, Imaging Lab, New York, NY USA Columbia Univ, Dept Radiol, New York, NY USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USAHirano, Michio论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY 10032 USA
- [15] Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresNEUROLOGY, 2025, 104 (07)Bergonzini, Luca论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyCarli, Sara论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyPelle, Silvia论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyPettenuzzo, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyBonetti, Silvia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalySanti, Erika论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyVisconti, Caterina论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyMaffei, Monica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurol Bologna, Programma Neuroradiol Tecn Elevata Compless, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalySheremet, Marta论文数: 0 引用数: 0 h-index: 0机构: Western Ukrainian Specialized Childrens Med Ctr, Pediat Dept, Lvov, Ukraine Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyLamantea, Eleonora论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyMarsala, Andrea论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyKlub, Olena论文数: 0 引用数: 0 h-index: 0机构: Western Ukrainian Specialized Childrens Med Ctr, Pediat Dept, Lvov, Ukraine Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyGentile, Valentina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyCordelli, Duccio Maria论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, ItalyGarone, Caterina论文数: 0 引用数: 0 h-index: 0机构: Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiat Pediat, Bologna, Italy Alma Mater Studiorum Univ Bologna, Dept Med & Surg Sci, Bologna, Italy
- [16] SEVERE TK2 ENZYME ACTIVITY DEFICIENCY IN PATIENTS WITH MILD FORMS OF MYOPATHYNEUROLOGY, 2015, 84 (22) : 2286 - 2288Camara, Yolanda论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainCarreno-Gago, Lidia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainMartin, Miguel A.论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainMelia, Maria J.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainBlazquez, Alberto论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainDelmiro, Aitor论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain论文数: 引用数: h-index:机构:Moren, Constanza论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Barcelona, Fac Med, Hosp Clin Barcelona, Muscle Res & Mitochondrial Funct Lab,Cellex IDIBA, Barcelona 7, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainDiaz-Manera, Jorge论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Serv Neurol, Lab Neurol Expt, Hosp Santa Creu & St Pau, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Inst Recerca HSCSP, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainGallardo, Eduard论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Serv Neurol, Lab Neurol Expt, Hosp Santa Creu & St Pau, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Inst Recerca HSCSP, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainBornstein, Belen论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Hosp Univ Puerta Hierro, Biochem Unit, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainLopez-Gallardo, Ester论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Zaragoza, Dept Bioquim Biol Mol & Celular, Zaragoza, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainHernandez-Lain, Aurelio论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Secc Neuropatol, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainSan Millan, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Univ Vigo, Serv Anat Patol, Vigo, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainCancho, Esther论文数: 0 引用数: 0 h-index: 0机构: Hosp Don Benito Villanueva, Serv Neurol, Badajoz, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainSamuel Rodriguez-Vico, Jaime论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Burgos, Serv Neurol, Burgos, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainMarti, Ramon论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, SpainGarcia-Arumi, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Res Grp Neuromuscular & Mitochondrial Disorders, E-08193 Barcelona, Spain
- [17] Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case reportMITOCHONDRION, 2024, 76Bermejo-Guerrero, Laura论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainHernandez-Voth, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, Spain Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainSerrano-Lorenzo, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Pulmonol Dept, Mech Ventilat & Neuromuscular Disorders Unit, Madrid 28041, Spain Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainBlazquez, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Pulmonol Dept, Mech Ventilat & Neuromuscular Disorders Unit, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainMartin-Jimenez, Paloma论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainMartin, Miguel A.论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Pulmonol Dept, Mech Ventilat & Neuromuscular Disorders Unit, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Hosp Res Inst Imas12, Mitochondrial & Neuromuscular Res Grp 12 Octubre, Madrid 28041, Spain Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, SpainDominguez-Gonzalez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Pulmonol Dept, Mech Ventilat & Neuromuscular Disorders Unit, Madrid 28041, Spain Spanish Network Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Hosp Univ, Genet Dept, Madrid 28041, Spain 12 Octubre Hosp, Res Inst Imas12, Neurol Dept, Neuromuscular Unit, Ave Andalucia S-N, Madrid 28041, Spain Hosp 12 Octubre, Neurol Dept, Neuromuscular Disorders Unit, Madrid 28041, Spain
- [18] The impact of TK2 deficiency syndrome and its treatment by nucleoside therapy on quality of lifeMITOCHONDRION, 2023, 68 : 1 - 9Amtmann, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Rehabil Med, Seattle, WA USA Univ Washington, Dept Rehabil Med, Box 354237, Seattle, WA 98195 USA Univ Washington, Dept Rehabil Med, Seattle, WA USAGammaitoni, Arnold R.论文数: 0 引用数: 0 h-index: 0机构: UCB, Zogenix Inc, Med Affairs, Emeryville, CA 94608 USA Univ Washington, Dept Rehabil Med, Seattle, WA USAGaler, Bradley S.论文数: 0 引用数: 0 h-index: 0机构: UCB, Zogenix Inc, Med Affairs, Emeryville, CA 94608 USA Univ Washington, Dept Rehabil Med, Seattle, WA USASalem, Rana论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Rehabil Med, Seattle, WA USA Univ Washington, Dept Rehabil Med, Seattle, WA USAJensen, Mark P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Rehabil Med, Seattle, WA USA Univ Washington, Dept Rehabil Med, Seattle, WA USA
- [19] Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiencyNEUROMUSCULAR DISORDERS, 2016, 26 : S178 - S179Sanchez-Montanez, A.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainMartinez-Saez, E.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainGarcia de la Banda, M. Gomez论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainJulia, N.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainQuijano-Roy, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Garches, France Vall dHebron Univ Hosp, Barcelona, SpainOlive, M.论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainGarcia-Arumi, E.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainGratacos, M.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainBuendia, J.论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainDelgado, I.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainVazquez, E.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainRoig, M.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainMunell, F.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, Spain
- [20] Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutationsNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 865 - 865Roos, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Inst Biomed, Gothenburg, Sweden Univ Gothenburg, Inst Biomed, Gothenburg, SwedenLindgren, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Inst Biomed, Gothenburg, Sweden Univ Gothenburg, Inst Biomed, Gothenburg, Sweden论文数: 引用数: h-index:机构:Moslemi, A. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Inst Biomed, Gothenburg, Sweden Univ Gothenburg, Inst Biomed, Gothenburg, Sweden论文数: 引用数: h-index:机构: