MD, PhD Ginevra Zanni - Bambino Gesù Children's Hospital

MD, PhD Ginevra Zanni

Bambino Gesù Children's Hospital

Italy

Main Specialties: Neurology

Additional Specialties: Neurogenetics, Medical Genetics

MD, PhD Ginevra Zanni - Bambino Gesù Children's Hospital

MD, PhD Ginevra Zanni

Introduction

Primary Affiliation: Bambino Gesù Children's Hospital - Italy

Specialties:

Additional Specialties:

Publications

34Publications

886Reads

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216PubMed Central Citations

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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http://dx.doi.org/10.5966/sctm.2015-0303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922854PMC
July 2016
30 Reads
3.600 Impact Factor

Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.

Dis Model Mech 2016 05 24;9(5):553-62. Epub 2016 Mar 24.

Department of Neurology, University of Utah, Salt Lake City, UT 84112, USA

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http://dx.doi.org/10.1242/dmm.022848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892658PMC
May 2016
34 Reads
1 Citation
4.973 Impact Factor

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Biochem Biophys Res Commun 2015 Apr 12;459(2):179-183. Epub 2014 Dec 12.

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

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http://dx.doi.org/10.1016/j.bbrc.2014.12.033DOI Listing
April 2015
11 Reads
1 Citation
2.300 Impact Factor

Head titubation: an unrecognized manifestation of Joubert syndrome and other (midline) cerebellar disorders?

Authors:
Ginevra Zanni

Dev Med Child Neurol 2014 Oct 12;56(10):925-6. Epub 2014 Jun 12.

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

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http://dx.doi.org/10.1111/dmcn.12508DOI Listing
October 2014
11 Reads
3.510 Impact Factor

Response to Li and Liu's "Darwin's statements on reversion or atavism".

Am J Med Genet A 2014 Aug 6;164A(8):2140. Epub 2014 May 6.

Unit of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, IRRCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36586DOI Listing
August 2014
2 Reads
2.160 Impact Factor

Christianson syndrome: spectrum of neuroimaging findings.

Neuropediatrics 2014 Aug 27;45(4):247-51. Epub 2013 Nov 27.

Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.

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http://dx.doi.org/10.1055/s-0033-1363091DOI Listing
August 2014
18 Reads
4 Citations
1.104 Impact Factor

In vitro neurogenesis: development and functional implications of iPSC technology.

Cell Mol Life Sci 2014 May 20;71(9):1623-39. Epub 2013 Nov 20.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, 0165, Rome, Italy,

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http://dx.doi.org/10.1007/s00018-013-1511-1DOI Listing
May 2014
4 Reads
15 Citations
5.810 Impact Factor

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014 May 19;108(4):811-5. Epub 2014 Feb 19.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2014.02.009DOI Listing
May 2014
24 Reads
6 Citations
2.020 Impact Factor

Annals of morphology. Atavisms: phylogenetic Lazarus?

Am J Med Genet A 2013 Nov 8;161A(11):2822-35. Epub 2013 Oct 8.

Unit of Molecular Medicine, Department of Neurosciences, Bambino Gesu Children's Hospital, IRRCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36234DOI Listing
November 2013
9 Reads
2.160 Impact Factor

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Neurogenetics 2013 Nov 24;14(3-4):247-50. Epub 2013 Aug 24.

Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-013-0371-zDOI Listing
November 2013
38 Reads
9 Citations
2.884 Impact Factor

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
9 Reads
6 Citations
1.934 Impact Factor

The SNPs in the human genetic blueprint era.

N Biotechnol 2013 Jun 24;30(5):475-84. Epub 2012 Nov 24.

University of Rome "Foro Italico", Italy.

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http://dx.doi.org/10.1016/j.nbt.2012.11.015DOI Listing
June 2013
16 Reads
1 Citation
2.900 Impact Factor

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

Gene 2013 Feb 20;515(2):439-43. Epub 2012 Dec 20.

Division of Endocrinology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.gene.2012.12.007DOI Listing
February 2013
7 Reads
4 Citations
2.140 Impact Factor

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Proc Natl Acad Sci U S A 2012 Sep 21;109(36):14514-9. Epub 2012 Aug 21.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1207488109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437887PMC
September 2012
92 Reads
28 Citations
9.810 Impact Factor

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

Eur J Paediatr Neurol 2012 May 27;16(3):248-56. Epub 2011 Aug 27.

Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341568PMC
May 2012
111 Reads
8 Citations
1.934 Impact Factor

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Neurogenetics 2011 Aug 12;12(3):241-5. Epub 2011 Apr 12.

Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165 Rome, Italy.

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http://dx.doi.org/10.1007/s10048-011-0283-8DOI Listing
August 2011
29 Reads
6 Citations
2.884 Impact Factor

X-linked disorders with cerebellar dysgenesis.

Orphanet J Rare Dis 2011 May 15;6:24. Epub 2011 May 15.

Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù ediatric Research Hospital, 4 Piazza S. Onofrio, 00165 Rome, Italy.

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http://dx.doi.org/10.1186/1750-1172-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115841PMC
May 2011
3 Reads
6 Citations
3.360 Impact Factor

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

Am J Med Genet A 2008 Mar;146A(5):593-600

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104) Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.32186DOI Listing
March 2008
12 Reads
7 Citations
2.160 Impact Factor

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

Eur J Med Genet 2005 Apr-Jun;48(2):145-52. Epub 2005 Feb 12.

Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2005.01.016DOI Listing
September 2005
12 Reads
1 Citation
1.490 Impact Factor

Defects of blastogenesis.

Am J Med Genet 2002 Dec;115(4):269-86

University of Utah, 100 N. Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA.

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http://dx.doi.org/10.1002/ajmg.10983DOI Listing
December 2002
5 Reads
15 Citations

X-linked congenital ataxia: a clinical and genetic study.

Am J Med Genet 2000 May;92(1):53-6

Department of Neurosciences, Unit of Molecular Medicine, Bambino Gesu' Children's Hospital, Rome, Italy.

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May 2000
4 Reads
8 Citations

Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.

Am J Med Genet 1998 Oct;79(4):279-83

Istituto di Genetica Medica, Facoltà de Medicina A. Gemelli, Università Cattolica, Roma, Italy.

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http://dx.doi.org/10.1002/(sici)1096-8628(19981002)79:4<279::aid-ajmg9>3.0.co;2-hDOI Listing
October 1998
6 Reads
18 Citations

Top co-authors

Enrico Bertini
Enrico Bertini

Laboratory of Molecular Medicine

18
Sabina Barresi
Sabina Barresi

Bambino Gesù Children's Hospital

13
Enza Maria Valente
Enza Maria Valente

Mendel Laboratory

7
Jamel Chelly
Jamel Chelly

Laboratoire de Biochimie et Génétique Moléculaire

5
John M Opitz
John M Opitz

University of Utah

4
Claudia Compagnucci
Claudia Compagnucci

Guy's Hospital

4
Eugenio Mercuri
Eugenio Mercuri

Catholic University

4
Bruno Dallapiccola
Bruno Dallapiccola

Bambino Gesù Children's Hospital

3
Pierre Billuart
Pierre Billuart

Université Paris Descartes

3
Andrea Poretti
Andrea Poretti

The Johns Hopkins University School of Medicine

3