List of works - Ginevra Zanni

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

scientific article published on 7 May 2015

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

scientific article published on 19 August 2015

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

scientific article published on 12 April 2018

A clinical diagnostic algorithm for early onset cerebellar ataxia

scientific article published on 10 August 2019

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

scientific article

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

scientific article

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

scientific article published in October 2009

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

scientific article published on 19 February 2014

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

scientific article

Annals of morphology. Atavisms: phylogenetic Lazarus?

scholarly article by Ginevra Zanni & John Marius Opitz published November 2013 in American Journal of Medical Genetics

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

scientific article published in February 2014

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

scientific article published on 01 June 2019

Christianson syndrome: spectrum of neuroimaging findings

scientific article

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

scientific article published on 01 October 1998

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

scientific article

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

scientific article published on 01 June 2019

DEFECTS OF BLASTOGENESIS

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

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

scientific article published on 10 April 2017

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

scientific article published on 14 March 2018

Defects of blastogenesis

scientific article

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

scientific article published on 13 July 2019

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

Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

scientific article published on 28 September 2019

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

scientific article published on 24 August 2013

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

scientific article published on 12 April 2011

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

scientific article published on 4 May 2016

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

scientific article published on 12 June 2014

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

article

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

scientific article published on 8 July 2017

In vitro neurogenesis: development and functional implications of iPSC technology

scientific article

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

scientific article published on 14 September 2011

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

scientific article published on 30 November 2016

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

scientific article published on 20 December 2012

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

scientific article

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

scientific article published on 6 July 2007

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

scientific article published on 7 April 2016

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

scientific article published on 30 January 2022

Nonprogressive congenital ataxias

scientific article published on 01 January 2018

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

scientific article published on 23 February 2018

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

scientific article

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development

scientific article

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

scientific article published on December 2015

Response to Li and Liu's “Darwin's statements on reversion or atavism”

scientific article published on 06 May 2014

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

scientific article published on 09 May 2016

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

scientific article

Serum uric acid in Friedreich Ataxia

scientific article published in February 2018

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

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

scientific article published on 24 March 2016

The SNPs in the human genetic blueprint era.

scientific article

The ataxia related G1107D mutation of the plasma membrane Ca2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process.

scientific article published on 12 September 2016

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

scientific article published on 24 April 2018

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

scientific article published on 27 August 2011

X-linked ataxias

scientific article published on 01 January 2018

X-linked congenital ataxia: A clinical and genetic study

scientific article published on 01 May 2000

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

article

X-linked disorders with cerebellar dysgenesis ⬇️

scientific article

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

scientific article

List of works by Ginevra Zanni

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

A clinical diagnostic algorithm for early onset cerebellar ataxia

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

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

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

Annals of morphology. Atavisms: phylogenetic Lazarus?

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Christianson syndrome: spectrum of neuroimaging findings

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

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

DEFECTS OF BLASTOGENESIS

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

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

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Defects of blastogenesis

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

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

Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

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

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

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

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

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

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

In vitro neurogenesis: development and functional implications of iPSC technology

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

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

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

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

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

Nonprogressive congenital ataxias

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

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

Response to Li and Liu's “Darwin's statements on reversion or atavism”

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

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

Serum uric acid in Friedreich Ataxia

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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

The SNPs in the human genetic blueprint era.

The ataxia related G1107D mutation of the plasma membrane Ca2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

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

X-linked ataxias

X-linked congenital ataxia: A clinical and genetic study

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

X-linked disorders with cerebellar dysgenesis ⬇️

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