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F

Francesco Muntoni

ucl great ormond street institute of child health

72H指数
700论文数
1.5W被引数
收录论文 101
发表时间
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The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies
errNEUROMUSCULAR DISORDERS
IF2.8
err2026-01-21
err0
PREAI
errRossi, Rachele; Aartsma-Rus, Annemieke; Muntoni, Francesco; Goyenvalle, Aurelie; Spitali, Pietro
err分享
err收藏
Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model反义寡核苷酸逆转小鼠模型中SPTLC1相关遗传性感觉神经病
errBrain
IF11.7
err2025-10-22
err0
errOAAI
errJinhong Meng; Shunyi Ma; Museer A Lone; Hou Wang Lam; Qiang Zhang; Shuzhi Cheng; Shona Mackie; Emma Graham; Hanna Kedzior; Charalambos Demetriou; Nicole Ziak; Laura Andreoli; Simon Beggs; Stephanie Koch; Alex J Clark; David L Bennett; Thorsten Hornemann; Francesco Muntoni; Mary M Reilly; Haiyan Zhou
err分享
err收藏
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy与eteplirsen外显子跳跃疗法相关的杜氏肌营养不良症中心脏结局的关联
errJournal of Neuromuscular Diseases
IF3.4
err2025-08-19
err0
errOAAI
errJoel Iff; Isabelle Desguerre; Yunjuan Liu; Francois Sarkozy; Edward Tuttle; Francesco Muntoni; Craig M McDonald; Marie-Christine Nougues; Helge Amthor; Yi Zhong; Karim Wahbi
err分享
err收藏
Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen脊髓性肌萎缩症1型患儿经nusinersen治疗后延髓功能研究
errdevelopmental medicine and child neurology
IF0
err2025-06-12
err0
errOAAI
errGeorgia Stimpson; Lavinia Fanelli; Eleanor Conway; Emily Johnson; Beatrice Berti; Mariacristina Scoto; Francesco Muntoni; Eugenio Mercuri; Giovanni Baranello; the p-FOIS/CEDAS and OrSAT Working Group
err分享
err收藏
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy多组学方法在两名先天性肌病患者同胞中鉴定出一个新型隐性致病性变异体，位于TNNT3基因。
errNeuromuscular Disorders
IF2.8
err2025-06-03
err0
PREAI
errJuliane S. Müller; Shira Rabinowicz; Irina Zaharieva; Veronica Pini; Vicente A. Yépez; Anna Esteve-Codina; Darren Chambers; Andrew Dawson; Luke Perry; Brian Herron; Estelle Healy; Sandya Tirupathi; Ana Töpf; Stephanie DiTroia; Rahul Phadke; Francesco Muntoni; Anna Sarkozy
err分享
err收藏
A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain发育期及成年人类大脑中肌营养不良蛋白异构体表达的空间时间图谱
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2025-05-21
err0
errOAAI
errCatapano, F; Alkharji, R; Chambers, D; Singh, S; Aghaeipour, A; Malhotra, J; Ferretti, P; Phadke, R; Muntoni, F
err分享
err收藏
The role of dystrophin isoforms and interactors in the brain脑内 dystrophin 剪接异构体及其相互作用蛋白的作用
errBRAIN
IF11.7
err2024-12-02
err2
errOAAI
errTetorou, Konstantina; Aghaeipour, Artadokht; Singh, Simran; Morgan, Jennifer E.; Muntoni, Francesco
err分享
err收藏
Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience StudyEteplirsen治疗杜氏肌营养不良症: 一项定性患者经验研究
errADVANCES IN THERAPY
IF4
err2024-07-03
err0
errOAAI
errIff, Joel; Carmichael, Chloe; McKee, Stephanie; Sehinovych, Ihor; McNeill, Carolyn; Tesi-Rocha, Carolina; Henricson, Erik; Muntoni, Francesco; Kitchen, Helen
err分享
err收藏
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys量化Duchenne肌营养不良症的运动功能变异性: 英国百分位数的NorthStar动态评估，10m步行速度和GC治疗男孩的地板速度上升
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2023-11-10
err4
errOAAI
errStimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; Muntoni, Francesco; Cole, Tim J.; Baranello, Giovanni
err分享
err收藏
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
errSCIENTIFIC REPORTS
IF3.9
err2023-09-24
err2
errOAAI
errFalzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farne, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; Muntoni, Francesco; Ferlini, Alessandra
err分享
err收藏
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2023-09-10
err14
errOAAI
errProud, Crystal M.; Mercuri, Eugenio; Finkel, Richard S.; Kirschner, Janbernd; De Vivo, Darryl C.; Muntoni, Francesco; Saito, Kayoko; Tizzano, Eduardo F.; Desguerre, Isabelle; Quijano-Roy, Susana; Benguerba, Kamal; Raju, Dheeraj; Faulkner, Eric; Servais, Laurent
err分享
err收藏
Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2023-06-15
err43
errOAAI
errBoennemann, Carsten G.; Belluscio, Beth A.; Braun, Serge; Morris, Carl; Singh, Teji; Muntoni, Francesco
err分享
err收藏
A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2022-09-08
err13
errOAAI
errHorton, Rebecca H.; Saade, Dimah; Markati, Theodora; Harriss, Elinor; Bonnemann, Carsten G.; Muntoni, Francesco; Servais, Laurent
err分享
err收藏
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders复杂的儿童期发作的多动性运动障碍的遗传景观
errMOVEMENT DISORDERS
IF7.6
err2022-08-25
err11
errOAAI
errPerez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Paivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C.; Pons, Roser; Peall, Kathryn J.; Leuzzi, Vincenzo; Kurian, Manju A.
err分享
err收藏
GGPS1-associated muscular dystrophy with and without hearing loss
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2022-07-23
err8
errOAAI
errKaiyrzhanoy, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Martins Moreno, Cristiane Araujo; Phadke, Rahul; Zaharieva, Irina; Gontijo, Clara Camelo; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Vahidi Mehrjardi, Mohammad Yahya; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza
err分享
err收藏
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
errNATURE MEDICINE
IF50
err2022-06-17
err152
errOAAI
errStrauss, Kevin A.; Farrar, Michelle A.; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R.; Servais, Laurent; McMillan, Hugh J.; Finkel, Richard S.; Swoboda, Kathryn J.; Kwon, Jennifer M.; Zaidman, Craig M.; Chiriboga, Claudia A.; Iannaccone, Susan T.; Krueger, Jena M.; Parsons, Julie A.; Shieh, Perry B.; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E.; Macek, Thomas A.
err分享
err收藏
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency杜氏肌营养不良症的惊吓反应: 脑营养不良蛋白缺乏症的新型生物标志物
errBRAIN
IF11.7
err2022-02-08
err13
errOAAI
errMaresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil A.; Mandy, William; Skuse, David; Muntoni, Francesco
err分享
err收藏
Changes in Myonuclear Number During Postnatal Growth - Implications for AAV Gene Therapy for Muscular Dystrophy
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2021-11-30
err11
errOAAI
errMorgan, Jennifer; Muntoni, Francesco
err分享
err收藏
Dystrophin deficiency affects human astrocyte properties andresponse to damage肌营养不良蛋白缺乏症会影响人类星形胶质细胞的特性和对损伤的反应
errGLIA
IF5.1
err2021-11-13
err15
errOAAI
errLange, Jenny; Gillham, Olivia; Alkharji, Reem; Eaton, Simon; Ferrari, Giulia; Madej, Monika; Flower, Michael; Tedesco, Francesco Saverio; Muntoni, Francesco; Ferretti, Patrizia
err分享
err收藏
The authors reply: Letter on: Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy by Zhouet al.作者回复: 关于: 肌肉生长抑制素抑制联合反义寡核苷酸治疗可改善脊髓性肌萎缩症的结果Zhouet等人。
errJOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
IF9.1
err2020-07-23
err0
errOAAI
errZhou, Haiyan; Muntoni, Francesco
err分享
err收藏

研究方向

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