M
M. Di Rocco
Researcher at Istituto Giannina Gaslini
Publications - 69
Citations - 1562
M. Di Rocco is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Compound heterozygosity & Microcephaly. The author has an hindex of 26, co-authored 69 publications receiving 1445 citations. Previous affiliations of M. Di Rocco include Boston Children's Hospital & University of Genoa.
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Journal ArticleDOI
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2
TL;DR: The clinical and molecular findings suggest that Torg, NAO and Winchester syndromes are allelic disorders that form a clinical spectrum.
Journal ArticleDOI
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Denise Cassandrini,Roberta Biancheri,Alessandra Tessa,M. Di Rocco,M. Di Capua,Claudio Bruno,Paola S. Denora,Stefano Sartori,Andrea Rossi,P. Nozza,Francesco Emma,P. Mezzano,M. R. Politi,A. M. Laverda,Federico Zara,Lorenzo Pavone,Alessandro Simonati,Vincenzo Leuzzi,Filippo M. Santorelli,Enrico Bertini +19 more
TL;DR: It is confirmed that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype and the presence of a heterozygous in/del variant correlates with a more severe phenotype as PCH4.
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β-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
Amelia Morrone,T Bardelli,M.A. Donati,Marcello Giorgi,M. Di Rocco,Rosanna Gatti,Rossella Parini,Roberta Ricci,G. Taddeucci,Alessandra d'Azzo,Enrico Zammarchi +10 more
TL;DR: Although the authors could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hβ‐Gal‐related protein, also known as the elastin binding protein (EBP).
Journal ArticleDOI
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
Amelia Morrone,Catia Cavicchi,T Bardelli,Daniela Antuzzi,Rossella Parini,M. Di Rocco,Sandro Feriozzi,Orazio Gabrielli,Rita Barone,Giuseppe Pistone,Claudio Spisni,Roberta Ricci,Enrico Zammarchi +12 more
TL;DR: The classical form is mainly characterised, in affected hemizygous males, by angiokeratoma, acroparaesthesias, hypohidrosis, pains, fever crises, and involvement of the kidneys, brain, and heart, while the cardiac variant is characterised by symptoms restricted to cardiac abnormalities.
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Arg113His mutation in eIF2B as cause of leukoencephalopathy in adults
M S van der Knaap,Peter A. J. Leegwater,C.G.M. van Berkel,C. Brenner,Elsdon Storey,M. Di Rocco,F Salvi,Jan C. Pronk +7 more
TL;DR: The data suggest that the Arg113His mutation in eIF2Bε is particularly mild and should be considered in the differential diagnosis of adult diffuse leukoencephalopathies, independent of whether there are associated clinical signs, an episodic course, or MRI shows white matter rarefaction/cystic degeneration.