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- [1] Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot StudyJOURNAL OF CHILD NEUROLOGY, 2025, 40 (01) : 26 - 38Lentini, Laura论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaToutounchi, Helia论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Le, Adam论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaFournier, Simon论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaEmari, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaFlamini, Robert论文数: 0 引用数: 0 h-index: 0机构: Panda Neurol, Atlanta, GA USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaRossi, Andrea论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Liguria, Italy Univ Genoa, Dept Hlth Sci DISSAL, Genoa, Liguria, Italy McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaGentile, Angela论文数: 0 引用数: 0 h-index: 0机构: Azienda Sanit Locale Bari, Med Genet Unit, Bari, Italy McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Rome, Italy McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaNicita, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Rome, Italy McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Venkateswaran, Sunita论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp London, Hlth Sci Ctr, Dept Neurol, Dept Pediat,Pediat Neurol,Schulich Med & Dent, London, ON, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Rossignol, Elsa论文数: 0 引用数: 0 h-index: 0机构: CHU Ste Justine, Pediat & Neurosci Dept, Montreal, PQ, Canada CHU Ste Justine, Brain Dis Res Grp, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaRenaud, Deborah论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Pediat, Div Child & Adolescent Neurol, Coll Med & Sci, Rochester, MN USA Mayo Clin, Dept Neurol, Div Child & Adolescent Neurol, Coll Med & Sci, Rochester, MN USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaPereira, Danilo De Assis论文数: 0 引用数: 0 h-index: 0机构: Pontif Catholic Univ, Sao Paulo, SP, Brazil McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaChen, Xiaoru论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Perelman Sch Med, Philadelphia, PA 19104 USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada
- [2] POLR3-related LeukodystrophyJOURNAL OF CLINICAL IMAGING SCIENCE, 2019, 9Thomas, Aby论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Dept Radiol, Hlth Sci Ctr, LeBonheur Childrens Hosp, Memphis, TN 38103 USA Univ Tennessee, Dept Radiol, Hlth Sci Ctr, LeBonheur Childrens Hosp, Memphis, TN 38103 USAThomas, Anna Kalathil论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Dept Radiol, Hlth Sci Ctr, LeBonheur Childrens Hosp, Memphis, TN 38103 USA Univ Tennessee, Dept Radiol, Hlth Sci Ctr, LeBonheur Childrens Hosp, Memphis, TN 38103 USA
- [3] Dystonia in POLR3-related leukodystrophyNEUROLOGY, 2016, 86Alyazidi, Ghalia论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Child Neurol, Montreal, PQ, Canada Childrens Natl Med Ctr, Washington, DC 20010 USATran, Luan论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Pediat Neurodegenerativ Lab, Montreal, PQ, Canada Dept Neurol, Montreal, PQ, Canada Dept Neurosurg, Montreal, PQ, Canada Childrens Natl Med Ctr, Washington, DC 20010 USAGuerrero, Kether论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Pediat, Montreal, PQ, Canada Dept Neurosurg, Pediat, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Pediat Neurodegenerativ Lab, Montreal, PQ, Canada Childrens Natl Med Ctr, Washington, DC 20010 USAVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Washington, DC 20010 USA Childrens Natl Med Ctr, Washington, DC 20010 USASchiffmann, Raphael论文数: 0 引用数: 0 h-index: 0机构: Inst Metab Dis, Dallas, TX USA Childrens Natl Med Ctr, Washington, DC 20010 USAWolf, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Child Neurol, Amesterdam, Netherlands Childrens Natl Med Ctr, Washington, DC 20010 USABernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Montreal Childrens Hosp, Montreal, PQ, Canada Childrens Natl Med Ctr, Washington, DC 20010 USA
- [4] Expanding the Phenotypic Spectrum of POLR3-related LeukodystrophyANNALS OF NEUROLOGY, 2017, 82 : S303 - S303Gauquelin, L.论文数: 0 引用数: 0 h-index: 0Perrier, S.论文数: 0 引用数: 0 h-index: 0Tran, L.论文数: 0 引用数: 0 h-index: 0Guerrero, K.论文数: 0 引用数: 0 h-index: 0Espinosa, Rodriguez N.论文数: 0 引用数: 0 h-index: 0Martin, Tejera, I论文数: 0 引用数: 0 h-index: 0Wolf, N.论文数: 0 引用数: 0 h-index: 0Pohl, D.论文数: 0 引用数: 0 h-index: 0Nageswaran, S.论文数: 0 引用数: 0 h-index: 0Grefe, A.论文数: 0 引用数: 0 h-index: 0Bernard, G.论文数: 0 引用数: 0 h-index: 0
- [5] POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care SystemPEDIATRIC NEUROLOGY, 2025, 166 : 81 - 87Le, Adam论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaThibault, Kelly-Ann论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada Univ Montreal, Fac Med, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaYazdani, Pouneh Amir论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada Univ Montreal, Fac Med, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Unit Neuromuscular & Neurodegenerat Dis, Bambino Gesu Childrens Hosp, Rome, Lazio, Italy McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaNicita, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Unit Neuromuscular & Neurodegenerat Dis, Bambino Gesu Childrens Hosp, Rome, Lazio, Italy McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Venkateswaran, Sunita论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Div Neurol, London Hlth Sci Ctr, Childrens Hosp,Schulich Med & Dent, London, ON, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Renaud, Deborah论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med & Sci, Dept Neurol & Pediat, Div Child & Adolescent Neurol, Rochester, MN USA McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaMoron, Dolores Gonzales论文数: 0 引用数: 0 h-index: 0机构: Hosp JM Ramos Mejia, Div Neurol, Neurogenet Unit, Buenos Aires, Argentina Univ Austral, CONICET, Buenos Aires, Argentina McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaKauffman, Marcelo论文数: 0 引用数: 0 h-index: 0机构: Hosp JM Ramos Mejia, Div Neurol, Neurogenet Unit, Buenos Aires, Argentina Univ Austral, CONICET, Buenos Aires, Argentina McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaPereira, Danilo De Assis论文数: 0 引用数: 0 h-index: 0机构: Pontif Catholic Univ Sao Paulo, Dept Human Reprod & Childhood, Sorocaba, SP, Brazil McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA USA McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaMorsa, Maxime论文数: 0 引用数: 0 h-index: 0机构: Univ Liege, Adaptat Resilience & Change Res Unit, Dept Psychol, Liege, Belgium McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, CanadaBernard, Genevie论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Specialized Med, Div Med Genet, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada
- [6] Restless legs syndrome in POLR3-related leukodystrophyEUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 385 - 385Potic, A.论文数: 0 引用数: 0 h-index: 0Pekic, S.论文数: 0 引用数: 0 h-index: 0
- [7] POLR3-Related Leukodystrophy: Exploring Potential Therapeutic ApproachesFRONTIERS IN CELLULAR NEUROSCIENCE, 2021, 14论文数: 引用数: h-index:机构:Michell-Robinson, Mackenzie A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Montreal Childrens Hosp, Div Med Genet, Dept Specialized Med, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
- [8] A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophyNEUROLOGICAL SCIENCES, 2023, 44 (09) : 3363 - 3368Yang, Haojun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaWu, Zhongling论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Clin Nursing Teaching & Res Sect, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaLi, Xiaolei论文数: 0 引用数: 0 h-index: 0机构: Laizhou Peoples Hosp, Yantai, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaHuang, Yuanxin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Clin Nursing Teaching & Res Sect, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaLi, Jing论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaHe, Fang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Pediat, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaFeng, Li论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Jiangxi Branch, Nanchang 330000, Jiangxi, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaXiao, Bo论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R ChinaTang, Weiting论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha, Hunan, Peoples R China
- [9] A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophyCLINICA CHIMICA ACTA, 2022, 533 : 15 - 21论文数: 引用数: h-index:机构:Cho, Yong Gon论文数: 0 引用数: 0 h-index: 0机构: Jeonbuk Natl Univ, Med Sch & Hosp, Dept Lab Med, Jeonju, South Korea Jeonbuk Natl Univ, Jeonbuk Natl Univ Hosp, Res Inst Clin Med, Biomed Res Inst, Jeonju, South Korea Catholic Univ Korea, Coll Med, Dept Pediat, Seoul, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [10] A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophyNeurological Sciences, 2023, 44 : 3363 - 3368Haojun Yang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyZhongling Wu论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyXiaolei Li论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyYuanxin Huang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyJing Li论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyFang He论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyLi Feng论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyBo Xiao论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of NeurologyWeiting Tang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital of Central South University,Department of Neurology