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S. Assereto · SciRah

Researcher profile · Semantic Scholar

S. Assereto

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S. Assereto — researcher profile on SciRah

h-index: 20
Works: 35
Citations: 1,222

Most-cited papers

Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy
M. Milh, A. Falace, N. Villeneuve, N. Vanni +8 more
2013Human Mutation124 citations Open access
Semantic Scholar
The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane
J. Baskin, Xudong Wu, Romain Christiano, M. Oh +13 more
2015Nature Cell Biology122 citations Open access
Semantic Scholar
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
Claudio Bruno, O. V. van Diggelen, D. Cassandrini, Marina Gimpelev +18 more
2004Neurology122 citations
Semantic Scholar
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
F. Zara, R. Biancheri, C. Bruno, L. Bordo +14 more
2006Nature Genetics99 citations Open access
Semantic Scholar
Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies.
E. Gazzerro, S. Assereto, A. Bonetto, F. Sotgia +8 more
2010American Journal of Pathology79 citations Open access
Semantic Scholar
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis
M. Donnarumma, S. Regis, B. Tappino, C. Rosano +4 more
2007Human Mutation75 citations Open access
Semantic Scholar
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
S. Assereto, S. Stringara, F. Sotgia, G. Bonuccelli +8 more
2006American Journal of Physiology - Cell Physiology68 citations
Semantic Scholar
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.
E. Gazzerro, S. Baldassari, S. Assereto, Floriana Fruscione +9 more
2015American Journal of Pathology50 citations Open access
Semantic Scholar
Activation of PKC-β isoforms mediates HNE-induced MCP-1 release by macrophages
M. Nitti, C. Domenicotti, C. d'Abramo, S. Assereto +6 more
200248 citations
Semantic Scholar
Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
C. Bruno, F. Santorelli, S. Assereto, E. Tonoli +6 more
2003Muscle and Nerve46 citations
Semantic Scholar
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro
M. Traverso, E. Gazzerro, S. Assereto, F. Sotgia +12 more
2008Laboratory Investigation40 citations Open access
Semantic Scholar
Neuromuscular forms of glycogen branching enzyme deficiency.
Claudio Bruno, D. Cassandrini, S. Assereto, H. Akman +2 more
2007Acta myologica40 citations
Semantic Scholar
Electroclinical presentation and genotype–phenotype relationships in patients with Unverricht‐Lundborg disease carrying compound heterozygous CSTB point and indel mutations
L. Canafoglia, E. Gennaro, G. Capovilla, G. Gobbi +11 more
2012Epilepsia36 citations
Semantic Scholar
Null mutations and lethal congenital form of glycogen storage disease type IV.
S. Assereto, O. V. van Diggelen, L. Diogo, E. Morava +10 more
2007Biochemical and Biophysical Research Communications - BBRC31 citations
Semantic Scholar
Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene
C. Bruno, O. Sacco, F. Santorelli, S. Assereto +4 more
2003Journal of Child Neurology29 citations
Semantic Scholar
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.
Giacomo Brisca, C. Fiorillo, C. Nesti, F. Trucco +8 more
2015Biochemical and Biophysical Research Communications - BBRC22 citations
Semantic Scholar
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
S. Assereto, Mauro Mastrototaro, S. Stringara, E. Gazzerro +8 more
2008Cell Cycle22 citations Open access
Semantic Scholar
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene
C. Fiorillo, M. D'Apice, F. Trucco, M. Murdocca +7 more
2018DNA and Cell Biology21 citations
Semantic Scholar
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease
M. Traverso, C. Bruno, A. Broccolini, F. Sotgia +11 more
2007Journal of Neurology Neurosurgery & Psychiatry20 citations
Semantic Scholar
Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism
D. Cassandrini, S. Savasta, M. Bozzola, A. Tessa +6 more
2006Journal of Child Neurology20 citations
Semantic Scholar
Activation of PKC-beta isoforms mediates HNE-induced MCP-1 release by macrophages.
M. Nitti, C. Domenicotti, C. d'Abramo, S. Assereto +6 more
2002Biochemical and Biophysical Research Communications - BBRC20 citations
Semantic Scholar
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
S. Assereto, R. Piccirillo, S. Baratto, P. Scudieri +8 more
2016Laboratory Investigation19 citations Open access
Semantic Scholar
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
R. Biancheri, A. Rossi, H. A. Verbeek, R. Schot +6 more
2005Neurogenetics16 citations
Semantic Scholar
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
E. Gazzerro, S. Baratto, S. Assereto, S. Baldassari +14 more
2019American Journal of Pathology14 citations Open access
Semantic Scholar
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
M. Traverso, S. Assereto, E. Gazzerro, S. Savasta +10 more
2013Biochemical and Biophysical Research Communications - BBRC14 citations Open access
Semantic Scholar
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.
C. Minetti, M. Gattorno, Silvia Repetto, A. Gregorio +5 more
2005Biochemical and Biophysical Research Communications - BBRC11 citations
Semantic Scholar
Clinical and molecular consequences of exon 78 deletion in DMD gene
M. Traverso, S. Assereto, S. Baratto, M. Iacomino +10 more
2018Journal of Human Genetics9 citations Open access
Semantic Scholar
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I
S. Assereto, Angela Robbiano, M. Dirocco, A. Rossi +10 more
2014Clinical Genetics6 citations
Semantic Scholar
Clinical and molecular consequences of exon 78 deletion in DMD gene
M. Traverso, S. Assereto, S. Baratto, M. Iacomino +10 more
2018Journal of Human Genetics0 citations Open access
Semantic Scholar
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary)
A. Zaccaro, U. Balottin, M. Camia, M. C. Motta +496 more
2015Acta myologica0 citations
Semantic Scholar
Erratum
L. Canafoglia, E. Gennaro, G. Capovilla, G. Gobbi +11 more
20130 citations
Semantic Scholar
G.P.8.08 Caveolin-3 T78K and T78M missense mutations lead to different phenotypes in vivo and in vitro
M. Traverso, E. Gazzerro, S. Assereto, L. Giberti +9 more
20070 citations
Semantic Scholar
G.P.6.06 Treatment with the proteasomal inhibitor Velcade rescues the dystrophin complex in experimental and pathological models of muscular dystrophies
E. Gazzerro, S. Assereto, Federica Sotgia, F. Zara +4 more
20070 citations
Semantic Scholar
A Novel White Matter Disorder With Cerebral Hypomyelination and Congenital Cataract
R. Biancheri, F. Zara, A. Rossi, C. Bruno +8 more
20060 citations
Semantic Scholar
Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency
C. Bruno, A. Pessagno, A. Rossi, M. Pedemonte +6 more
20030 citations
Semantic Scholar

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