Emanuele Bellacchio

Emanuele Bellacchio

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Emanuele Bellacchio

Emanuele Bellacchio

Publications by authors named "Emanuele Bellacchio"

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Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Clin Genet 2019 Aug 5;96(2):169-175. Epub 2019 Jun 5.

Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13562
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http://dx.doi.org/10.1111/cge.13562DOI Listing
August 2019

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Cerebellum 2018 Aug;17(4):499-503

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s12311-018-0924-7DOI Listing
August 2018

[Clinical and molecular study in a family with cleidocranial dysplasia].

Arch Argent Pediatr 2017 Dec;115(6):e440-e444

Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.

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http://dx.doi.org/10.5546/aap.2017.e440DOI Listing
December 2017

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
September 2017

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

J Neurol Sci 2017 07 10;378:210-212. Epub 2017 May 10.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.05.014DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Eur J Paediatr Neurol 2017 May 30;21(3):450-456. Epub 2016 Nov 30.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.005DOI Listing
May 2017

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia.

Leuk Lymphoma 2016 09 24;57(9):2189-91. Epub 2015 Dec 24.

e Unit of Medical Genetics, Department of Pediatrics , Faculty of Medicine, University of The Andes , Mérida , Venezuela.

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http://dx.doi.org/10.3109/10428194.2015.1115030DOI Listing
September 2016

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Mechanism of neurotoxicity of prion and Alzheimer's disease-related proteins: molecular insights from bioinformatically identified ω-conotoxin-like pharmacophores.

Crit Rev Eukaryot Gene Expr 2013 ;23(4):355-73

Research Laboratories, Bambino Gesù Children's Hospital, Rome, Italy.

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June 2014

A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

Oral Health Dent Manag 2014 Jun;13(2):548-51

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"- Trieste, Via dell'Istria 65/1, 34100, Italy; Tel: +39 040 3785675; e-mail:

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http://www.omicsonline.com/open-access/a-case-of-cleidocrani
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June 2014

The human papillomavirus-16 E7 oncoprotein exerts antiapoptotic effects via its physical interaction with the actin-binding protein gelsolin.

Carcinogenesis 2013 Oct 1;34(10):2424-33. Epub 2013 Jun 1.

Department of Development of Therapeutic Programs, Regina Elena National Cancer Institute, IRCCS, Via Elio Chianesi 53, 00144 Rome, Italy.

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http://dx.doi.org/10.1093/carcin/bgt192DOI Listing
October 2013

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Eur J Paediatr Neurol 2013 Jul 11;17(4):361-5. Epub 2013 Jan 11.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 400165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.12.006DOI Listing
July 2013

Understanding the targeting of the RB family proteins by viral oncoproteins to defeat their oncogenic machinery.

J Cell Physiol 2013 Feb;228(2):285-91

Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://doi.wiley.com/10.1002/jcp.24137
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http://dx.doi.org/10.1002/jcp.24137DOI Listing
February 2013

In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein.

J Cell Physiol 2012 Nov;227(11):3566-74

Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/jcp.24058DOI Listing
November 2012

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol 2009 Oct 16;73(10):1458-63. Epub 2009 Jul 16.

Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2009.06.003DOI Listing
October 2009

Are MYO1C and MYO1F associated with hearing loss?

Biochim Biophys Acta 2009 Jan 5;1792(1):27-32. Epub 2008 Nov 5.

Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2008.10.017DOI Listing
January 2009

TRIB3 R84 variant is associated with impaired insulin-mediated nitric oxide production in human endothelial cells.

Arterioscler Thromb Vasc Biol 2008 Jul 24;28(7):1355-60. Epub 2008 Apr 24.

Department of Medicine and Aging Sciences, Edificio CeSi, room 271, University of Chieti, via dei Vestini 1, 66100 CHIETI, Italy.

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http://dx.doi.org/10.1161/ATVBAHA.108.162883DOI Listing
July 2008

Interaction between the Cdk2/cyclin A complex and a small molecule derived from the pRb2/p130 spacer domain: a theoretical model.

Cell Cycle 2007 Nov 13;6(21):2591-3. Epub 2007 Aug 13.

Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, Pennsylvania 19122, USA.

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http://www.tandfonline.com/doi/abs/10.4161/cc.6.21.4878
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http://dx.doi.org/10.4161/cc.6.21.4878DOI Listing
November 2007

Gene symbol: FOXE1. Disease: Nonsyndromic cleft palate. Accession #Hm0535.

Hum Genet 2006 Feb;118(6):777

Department of Experimental Pathology and Microbiology, Section of Experimental Pathology, Azienda Policlinico Universitario, Torre Biologica, 5 piano, Via Consolare Valeria 1, 98125 Messina, Italy.

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February 2006

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

Hum Mol Genet 2005 Nov 5;14(22):3477-92. Epub 2005 Oct 5.

Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddi377DOI Listing
November 2005

Calcium EXAFS establishes the Mn-Ca cluster in the oxygen-evolving complex of photosystem II.

Biochemistry 2002 Oct;41(43):12928-33

Physical Biosciences Division, Melvin Calvin Laboratory, Lawrence Berkeley National Laboratory, Berkeley, California 94720-5230, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947642PMC
http://dx.doi.org/10.1021/bi026569pDOI Listing
October 2002

Chiral H- and J-Type Aggregates of meso-Tetrakis(4-sulfonatophenyl)porphine on alpha-Helical Polyglutamic Acid Induced by Cationic Porphyrins.

Inorg Chem 1998 Jul;37(14):3647-3648

Dipartimento di Scienze Chimiche, Università di Catania, Viale A. Doria 6, 95125, Catania, Italy, Dipartimento di Chimica Inorganica, Chimica Analitica e Chimica Fisica, Università di Messina, ICTPN CNR Sezione di Messina, Messina, Italy, and Istituto per lo Studio delle Sostanze Naturali di Interesse Alimentare e Chimico-Farmaceutico, CNR, Catania, Italy.

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http://dx.doi.org/10.1021/ic971432mDOI Listing
July 1998