罕见病:高度专业化和科学研究
个人简介
Stefano Previtali医生就职于IRCCS圣拉斐尔科学研究医院的神经内科,在Massimo Filippi教授的指导下开展工作。
1990年,Previtali从米兰大学医学院毕业后,于1994年专修神经病学,并于1998年在米兰大学获得神经病学博士学位。
Previtali医生负责肌肉活检科(形态学、组织酶学、免疫组织化学和Western印记),是神经肌肉疾病方面的专家,特别关注成人和儿童的肌病(遗传性和获得性)和遗传性神经病(CMT)。
在研究活动方面,Previtali医生负责神经肌肉再生研究部。Previtali医生的工作主要是确定新的治疗策略、发现某些疾病背后的分子机制,如杜兴氏肌营养不良(进行性肌营养不良)、面肩肱型肌营养不良症、Merosin缺陷性先天性营养不良症(LAMA2)、核纤层蛋白病、进行性神经性腓骨肌萎缩症(CMT)。Previtali医生以作者或共同作者的身份在行业学术期刊上发表了多篇论文,也参与了书籍章节的编写,共计100余篇文章,H指数为37。他经常参加意大利国内外的行业会议。
多媒体中心
出版物
最新出版物
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Hum Mol Genet 2020 2020;29(2):177–188. doi: 10.1093/hmg/ddz211. PMID 31868880
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry. 2019;90(10):1171–1179.. doi: 10.1136/jnnp-2019-320717. PMID 31167812
A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs).
Ann Neurol. 2019;86(1):55–67. doi: 10.1002/ana.25500. PMID
Expanding The Central Nervous System Disease Spectrum Associated WITH Flnc Mutation. Muscle Nerve.
2019;59(5):E33–E37. doi: 10.1002/mus.26443. PMID 30734317
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: critical issues and areas for improvements.
Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. PMID:28262469
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.
EMBO Mol Med 2016 Dec 1;8(12):1438-1454. doi: 10.15252/emmm.201606349. PMID 27799291
Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne Muscular Dystrophy.
EMBO MolMed 2015 Nov 5. pii: e201505636. doi: 10.15252/emmm.201505636. PMID:26543057
Mesoangioblast delivery of miniagrin ameliorates murine model of Merosin Deficient Congenital Muscular Dystrophy type 1A.
Skelet Muscle. 2015 Sep 3;5:30. doi: 10.1186/s13395-015-0055-5. eCollection 2015.. PMID:26347253
Muscle MRI findings in Facioscapulohumeral muscular dystrophy.
Eur Radiol. 2016 Mar;26(3):693-705. doi: 10.1007/s00330-015-3890-1. Epub 2015 Jun 27. PMID:26115655
A new double trouble phenotype: facioscapulohumeral muscular dystrophy ameliorates spastic paraparesis due to spastin mutation.
J Neurol. 2015 Feb;262(2):476-8. doi: 10.1007/s00415-014-7606-2. Epub 2014 Dec 16.PMID:25511172
Loss of function mutations in HINT1 are a major cause of peripheral neuropathy with neuromyotonia
Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. PMID 22961002
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.
Neurology 2012 Jul 10;79(2):159-62. PMID 22744661
Vimentin regulates peripheral nerve myelination.
Development 2012 Apr;139(7):1359-67. PMID 22357929
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study
Neurology 2011 Jul 19;77(3):250-6. PMID 21734183