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Massimiliano Filosto
Massimiliano Filosto
Department of Clinical and Experimental Sciences, University of Brescia, Italy
在 unibs.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043-1048, 2016
6042016
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1267-1288, 2018
6012018
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
G Ferrari, E Lamantea, A Donati, M Filosto, E Briem, F Carrara, R Parini, ...
Brain 128 (4), 723-731, 2005
3362005
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
3092021
Clinical characteristics and outcomes of inpatients with neurologic disease and COVID-19 in Brescia, Lombardy, Italy
A Benussi, A Pilotto, E Premi, I Libri, M Giunta, C Agosti, A Alberici, ...
Neurology 95 (7), e910-e920, 2020
2682020
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions
M Filosto, SC Piccinelli, S Gazzina, C Foresti, B Frigeni, MC Servalli, ...
Journal of Neurology, Neurosurgery & Psychiatry 92 (7), 751-756, 2021
2212021
Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ...
Neurology 80 (22), 2049-2054, 2013
2072013
The role of mitochondria in neurodegenerative diseases
M Filosto, M Scarpelli, MS Cotelli, V Vielmi, A Todeschini, V Gregorelli, ...
Journal of neurology 258, 1763-1774, 2011
1652011
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ...
Journal of neurology 259, 952-958, 2012
1592012
The m. 3243A> G mitochondrial DNA mutation and related phenotypes. A matter of gender?
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, A Donati, ...
Journal of neurology 261, 504-510, 2014
1572014
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database
PE Doneddu, D Cocito, F Manganelli, R Fazio, C Briani, M Filosto, ...
Journal of Neurology, Neurosurgery & Psychiatry 90 (2), 125-132, 2019
1502019
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
D Ronchi, A Di Fonzo, W Lin, A Bordoni, C Liu, E Fassone, S Pagliarani, ...
The American Journal of Human Genetics 92 (2), 293-300, 2013
1502013
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
JP Halter, W Michael, M Schüpbach, H Mandel, C Casali, K Orchard, ...
Brain 138 (10), 2847-2858, 2015
1482015
Neuropathology of mitochondrial diseases
M Filosto, G Tomelleri, P Tonin, M Scarpelli, G Vattemi, N Rizzuto, ...
Bioscience reports 27, 23-30, 2007
1452007
A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis
I Fogh, A Ratti, C Gellera, K Lin, C Tiloca, V Moskvina, L Corrado, ...
Human molecular genetics 23 (8), 2220-2231, 2014
1412014
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
RL McLaughlin, D Schijven, W Van Rheenen, KR Van Eijk, M O’brien, ...
Nature communications 8 (1), 14774, 2017
1392017
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ
M Filosto, M Mancuso, Y Nishigaki, J Pancrudo, Y Harati, C Gooch, ...
Archives of neurology 60 (9), 1279-1284, 2003
1392003
Physical activity and amyotrophic lateral sclerosis: A European population‐based case–control study
E Pupillo, P Messina, G Giussani, G Logroscino, S Zoccolella, A Chiò, ...
Annals of neurology 75 (5), 708-716, 2014
1332014
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
L Maggi, L Bello, S Bonanno, A Govoni, C Caponnetto, L Passamano, ...
Journal of Neurology, Neurosurgery & Psychiatry 91 (11), 1166-1174, 2020
1282020
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
MG Hanna, UA Badrising, O Benveniste, TE Lloyd, M Needham, H Chinoy, ...
The Lancet Neurology 18 (9), 834-844, 2019
1232019
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