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A. Donati · SciRah

Researcher profile · Semantic Scholar

A. Donati

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A. Donati — researcher profile on SciRah

h-index: 18
Works: 37
Citations: 2,422

Most-cited papers

Genetic diagnosis of Mendelian disorders via RNA sequencing
L. Kremer, Daniel M. Bader, C. Mertes, R. Kopajtich +28 more
2017Nature Communications540 citations Open access
Semantic Scholar
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Gianfrancesco Ferrari, E. Lamantea, A. Donati, M. Filosto +6 more
2005Brain : a journal of neurology304 citations
Semantic Scholar
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E. Benetti, R. Tita, O. Spiga, A. Ciolfi +134 more
2020European Journal of Human Genetics205 citations Open access
Semantic Scholar
Clinical and molecular features of mitochondrial DNA depletion syndromes
A. Spinazzola, F. Invernizzi, F. Carrara, E. Lamantea +7 more
2009Journal of Inherited Metabolic Disease196 citations
Semantic Scholar
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
E. Fernández-Vizarra, M. Bugiani, P. Goffrini, F. Carrara +6 more
2007Human Molecular Genetics173 citations
Semantic Scholar
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
C. Fallerini, S. Daga, S. Mantovani, E. Benetti +144 more
2021eLife155 citations Open access
Semantic Scholar
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini +27 more
2014Journal of Neurology147 citations
Semantic Scholar
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.
G. Parenti, A. Zuppaldi, M. G. Pittis, M. Tuzzi +11 more
2007Molecular Therapy107 citations Open access
Semantic Scholar
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Claudia Brogna, G. Coratti, M. Pane, V. Ricotti +22 more
2019PLoS ONE69 citations Open access
Semantic Scholar
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
S. Mantovani, S. Daga, C. Fallerini, M. Baldassarri +189 more
2021Genes and Immunity61 citations Open access
Semantic Scholar
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
S. Salvi, F. Santorelli, E. Bertini, R. Boldrini +7 more
2001Neurology61 citations
Semantic Scholar
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
A. Nasca, C. Scotton, I. Zaharieva, M. Neri +18 more
2017Human Mutation59 citations Open access
Semantic Scholar
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
F. Fattori, L. Maggi, C. Bruno, D. Cassandrini +33 more
2015Journal of Neurology56 citations Open access
Semantic Scholar
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
G. Parenti, A. Zuppaldi, M. G. Pittis, M. Tuzzi +11 more
2007Molecular Therapy56 citations
Semantic Scholar
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
M. Baldassarri, Nicola Picchiotti, F. Fava, C. Fallerini +145 more
2021EBioMedicine53 citations Open access
Semantic Scholar
Efficacy of ACE‐inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
D. Melis, G. Parenti, R. Gatti, R. Della Casa +11 more
2005Clinical Endocrinology44 citations
Semantic Scholar
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
A. Ardissone, C. Bruno, D. Diodato, A. Donati +14 more
2021Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Aurora Fusto, D. Cassandrini, C. Fiorillo, Valentina Codemo +30 more
2022Acta Neuropathologica Communications19 citations Open access
Semantic Scholar
Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
Alessia Perna, M. Masciullo, A. Modoni, E. Cellini +4 more
2018European Journal of Neurology18 citations
Semantic Scholar
Early neurodevelopmental characterization in children with cobalamin C/defect
D. Ricci, D. Martinelli, Gloria Ferrantini, S. Lucibello +10 more
2020Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
G. Coratti, M. Pane, Claudia Brogna, V. Ricotti +29 more
2021PLoS ONE13 citations Open access
Semantic Scholar
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
L. Bergantini, M. Baldassarri, M. d'Alessandro, G. Brunelli +194 more
2023Respiratory Research11 citations Open access
Semantic Scholar
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
M. Veneruso, C. Fiorillo, P. Broda, S. Baratto +14 more
2021Frontiers in Neurology8 citations Open access
Semantic Scholar
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Claudia Brogna, Giorgia Coratt, M. Pane, V. Ricotti +22 more
2019PLoS ONE7 citations Open access
Semantic Scholar
Becker muscular dystrophy: Clinical, biochemical, and molecular genetic correlations
Serenella Servidai, G. Galluzzi, E. Bertini, G. Manfredi +6 more
19944 citations
Semantic Scholar
Author response: Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
C. Fallerini, S. Daga, S. Mantovani, E. Benetti +144 more
20212 citations Open access
Semantic Scholar
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.
Claudia Brogna, G. Coratti, R. Rossi, M. Neri +26 more
2021Neuromuscular Disorders2 citations
Semantic Scholar
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a Boy with Short-Chain AcylCoA Dehydrogenase Deficiency
S. Stagi, S. Gasperini, Cristina Manoni, A. Greco +2 more
2010Hormone Research in Paediatrics2 citations
Semantic Scholar
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-g
A. Ferrari, E. Lamantea, A. Donati, M. Filosto +6 more
20052 citations
Semantic Scholar
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-g A
Gianfrancesco Ferrari, E. Lamantea, A. Donati, M. Filosto +6 more
20051 citations
Semantic Scholar
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
S. Mantovani, S. Daga, C. Fallerini, M. Baldassarri +190 more
2021Genes and Immunity0 citations Open access
Semantic Scholar
P016 Impact of liver transplant on metabolic profiles in children with inborn errors of protein metabolism
G. Ranucci, D. Martinelli, A. Maiorana, A. Liguori +16 more
2018Digestive and Liver Disease0 citations
Semantic Scholar
P143 Protein tolerance in patients with in-born error of protein metabolism after liver transplantation
A. Liguori, G. Ranucci, A. Maiorana, S. Bernabei +16 more
2018Digestive and Liver Disease0 citations
Semantic Scholar
Report on nationwide Italian collaborative network for muscle glycogen storage disorders
O. Musumeci, T. Mongini, C. Angelini, Claudio Bruno +10 more
20170 citations
Semantic Scholar
NG.O.11 - Recessive mutations in novel gene MST01 cause early onset neuromuscular condition
A. Sarkozy, I. Zaharieva, Alessia Nasca, C. Scotton +16 more
20170 citations
Semantic Scholar
Clinical and molecular genetics spectrum of Thymidine Kinase 2 deficiency (P5.067)
C. Garone, E. Barca, K. Kleinsteuber, A. Donati +2 more
2015Neurology0 citations
Semantic Scholar
Sideroflexin-4 Defects Cause A New Infantile Mitochondrial Disorder Affecting Hematopoietic And Central Nervous Systems. (P7.328)
C. Garone, G. Hildick-Smith, Jeffrey D. Cooney, L. Kremer +23 more
2014Neurology0 citations
Semantic Scholar

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