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- [43] 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
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- [50] Rare cause of Hypomyelinating Leukodystrophy type 7: "Gly672Glu homozygous variant of the POLR3A gene"EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 960 - 960Carvalho Monteiro, G.论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainPovedano Margarit, B.论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainCeli Celi, J. M.论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainJimenez, D. E. Barbero论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainHernandez Cristobal, J.论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainYusta Izquierdo, A.论文数: 0 引用数: 0 h-index: 0机构: Guadalajara Univ Hosp, Neurol, Guadalajara, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainPujol, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed Bellvitge, Barcelona, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, SpainRuiz Sales, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed Bellvitge, Barcelona, Spain Guadalajara Univ Hosp, Neurol, Guadalajara, Spain