G. Zanni

发表

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

E. Bertini, H. Lue, W. Antonin, 2019, The Cerebellum.

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

E. Bertini, C. Pignata, A. Capuano, 2019, Clinical genetics.

Clinical phenotypes of infantile onset CACNA1A-related disorder.

E. Bertini, D. Lev, B. Pode-Shakked, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia

E. Bertini, G. Vasco, M. Petrarca, 2020, Journal of Neuroscience Methods.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

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

E. Bertini, A. Durr, P. Billuart, 2005, Neurology.

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

E. Bertini, B. Bernardi, G. Colafati, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

E. Bertini, C. Garel, R. Touraine, 2012, Orphanet Journal of Rare Diseases.

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

E. Bertini, E. Valente, G. Zanni, 2014, Epilepsy Research.

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

E. Bertini, F. Santorelli, F. Zonta, 2018, Neurobiology of Disease.

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

E. Bertini, B. Dallapiccola, A. Ferlini, 2013, neurogenetics.

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

E. Bertini, G. Vasco, G. Tasca, 2018, The Cerebellum.

Application of a Clinical Workﬂow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

A. Tessa, F. Santorelli, G. Zanni, 2021 .

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

A. Tessa, F. Santorelli, G. Silvestri, 2021, Brain sciences.

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

R. Boldrini, E. Bertini, R. Carrozzo, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

E. Bertini, G. Cestra, S. Petrini, 2020, International journal of molecular sciences.

X-linked disorders with cerebellar dysgenesis

E. Bertini, G. Zanni, 2011, Orphanet journal of rare diseases.

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

E. Bertini, F. Santorelli, J. Chelly, 2000, American journal of medical genetics.

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

G. Zanni, 2014, Developmental medicine and child neurology.

E. Bertini, G. Vasco, E. Valente, 2021, The Cerebellum.

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

E. Bertini, A. Bruselles, M. Tartaglia, 2018, Human molecular genetics.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders

R. Borgatti, E. Valente, G. Zanni, 2022, International journal of molecular sciences.

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia

B. Wirth, M. Tartaglia, S. Alberti, 2022, Cellular and Molecular Life Sciences.

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

M. Giustetto, Y. Hérault, Y. Humeau, 2016, Human molecular genetics.

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

E. Bertini, P. Billuart, G. Neri, 2011, Human mutation.

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

E. Bertini, T. Huisman, K. Zerres, 2013, The Cerebellum.

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

E. Bertini, G. Vasco, A. D’Amico, 2018, neurogenetics.

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

E. Bertini, E. Mercuri, E. Valente, 2013, Orphanet Journal of Rare Diseases.

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

E. Bertini, B. Bernardi, E. Valente, 2013, neurogenetics.

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

R. Carrozzo, L. Cendron, A. Torraco, 2022, Cell Death & Disease.

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

M. Morello, H. Garcia-Moreno, N. Solanky, 2022, Antioxidants.

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

E. Bertini, S. Pro, M. Tartaglia, 2017, Brain : a journal of neurology.

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Michael F. Wangler, V. Narayanan, E. Valente, 2022, Annals of neurology.

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

N. Brunetti‐Pierri, M. Pinelli, I. Scala, 2022, American journal of medical genetics. Part A.

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

A. Ziegler, E. Bertini, R. Borgatti, 2016, European Journal of Human Genetics.

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

E. Bertini, G. Zanni, A. Sferra, 2022, Brain sciences.

E. Bertini, R. Borgatti, P. Striano, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

S. Klauck, E. Bertini, S. Haas, 2015, Human mutation.

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

A. Novelli, G. Zanni, M. Cappa, 2013, Gene.

Expanding the natural history of CASK‐related disorders to the prenatal period

E. Boltshauser, R. Battini, G. Zanni, 2022, Developmental medicine and child neurology.

Annals of morphology. Atavisms: Phylogenetic lazarus?

J. Opitz, G. Zanni, J. M. Opitz, 2013, American journal of medical genetics. Part A.

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

E. Conte, A. De Luca, A. Liantonio, 2021, International journal of molecular sciences.

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

E. Bertini, L. Montecchi-Palazzi, V. Kalscheuer, 2012, Proceedings of the National Academy of Sciences.

S. Pantano, F. Zonta, M. Brini, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia

T. Klockgether, B. Brais, P. Klivényi, 2022, medRxiv.

DEFECTS OF BLASTOGENESIS

J. Opitz, E. Gilbert-Barness, G. Zanni, 2002, American journal of medical genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

In vitro neurogenesis: development and functional implications of iPSC technology

S. Corti, E. Bertini, C. Compagnucci, 2013, Cellular and Molecular Life Sciences.

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

Darren C. Ames, S. Pulst, K. Figueroa, 2016, Disease Models & Mechanisms.

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

E. Bertini, C. Compagnucci, A. Masotti, 2014, Aging.

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

E. Bertini, A. Capuano, G. Zanni, 2020, International journal of molecular sciences.

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

G. Neri, G. Zanni, F. Gurrieri, 1998, American journal of medical genetics.

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Brain sciences.

Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

E. Bertini, A. Athanasiadis, F. Locatelli, 2014, PloS one.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

E. Bertini, G. Vasco, C. Catsman-Berrevoets, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Nonprogressive congenital ataxias.

E. Bertini, E. Boltshauser, G. Zanni, 2018, Handbook of clinical neurology.

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

E. Bertini, A. Bruselles, M. Tartaglia, 2017, Gene.

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

E. Bertini, A. Bruselles, M. Tartaglia, 2017, Clinical genetics.

Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships

Michael F. Wangler, V. Narayanan, E. Valente, 2020, medRxiv.

X-linked ataxias.

E. Bertini, G. Zanni, 2018, Handbook of clinical neurology.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

E. Bertini, R. Borgatti, E. Valente, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

E. Bertini, R. Borgatti, T. Mazza, 2021, Journal of Medical Genetics.

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

H. Ropers, J. Fryns, J. Chelly, 2010, neurogenetics.

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

E. Bertini, R. Borgatti, G. Vasco, 2020, Journal of Medical Genetics.

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

E. Bertini, Massimiliano Valeriani, A. D’Amico, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

E. Bertini, C. Compagnucci, A. Coppola, 2016, American journal of human genetics.

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

E. Bertini, T. Huisman, K. Zerres, 2014, The Cerebellum.

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

D. Bonthron, M. Porteous, J. Chelly, 2007, Journal of Medical Genetics.

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia‐Telangiectasia Mutated Gene

S. Soddu, G. Zanni, V. Leuzzi, 2022, Movement disorders clinical practice.

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

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011, neurogenetics.

FGF 17 , a gene involved in cerebellar development , is downregulated in a patient with Dandy – Walker malformation carrying a de novo 8 p deletion

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011 .

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

E. Bertini, G. Vasco, A. D’Amico, 2018, neurogenetics.

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

E. Bertini, A. Jezela-Stanek, R. Płoski, 2019, Journal of Neurology.

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

H. Bassan, Philippe M. Campeau, G. Zanni, 2021, Neurology: Genetics.

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

K. Devriendt, J. Fryns, J. Chelly, 2005 .

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Caitlin V. Miller, E. Bertini, R. Borgatti, 2021, Journal of Medical Genetics.

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

J. Opitz, E. Bertini, J. Chelly, 2008, American journal of medical genetics. Part A.

Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study

E. Bertini, M. di Paola, G. Colafati, 2022, International journal of environmental research and public health.

Age and sex prevalence estimate of Joubert syndrome in Italy

E. Bertini, R. Borgatti, E. Valente, 2020, Neurology.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

D. Timmann, R. Schüle, L. Schöls, 2021, Frontiers in Neurology.

Serum uric acid in Friedreich Ataxia.

E. Bertini, G. Vasco, E. Castelli, 2018, Clinical biochemistry.

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

E. Bertini, F. Cecconi, M. Tartaglia, 2017, Italian Journal of Pediatrics.

Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance

E. Bertini, G. Vasco, E. Valente, 2021, Human mutation.

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

E. Bertini, B. Bernardi, E. Valente, 2013, neurogenetics.

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

E. Bertini, G. Vasco, G. Tasca, 2018, The Cerebellum.

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

E. Bertini, H. Lue, W. Antonin, 2019, The Cerebellum.

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

E. Bertini, R. Carrozzo, G. Vasco, 2019, Parkinsonism & related disorders.

Christianson Syndrome: Spectrum of Neuroimaging Findings

E. Bertini, T. Huisman, A. Poretti, 2013, Neuropediatrics.

In vitro neurogenesis: development and functional implications of iPSC technology

S. Corti, E. Bertini, C. Compagnucci, 2014, Cellular and Molecular Life Sciences.

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

E. Bertini, C. Compagnucci, P. Billuart, 2016, Stem cells translational medicine.

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia

B. Wirth, M. Tartaglia, S. Alberti, 2022, Cellular and Molecular Life Sciences.

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

Giuseppe Zanotti, Ernesto Carafoli, Enza Maria Valente, 2017, Biochimica et biophysica acta. Molecular basis of disease.

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

K. Devriendt, H. Van Esch, J. Fryns, 2004, European journal of medical genetics.

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties

A. Capuano, S. Servidei, G. Zanni, 2021, International journal of molecular sciences.

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

E. Bertini, C. Compagnucci, S. Petrini, 2015, Biochemical and biophysical research communications.

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.

E. Bertini, M. Severino, G. Zanni, 2021, Epileptic disorders : international epilepsy journal with videotape.

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

E. Bertini, B. Dallapiccola, A. Ferlini, 2013, neurogenetics.

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

D. Timmann, L. Schöls, P. Klivényi, 2023, Movement disorders : official journal of the Movement Disorder Society.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

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*

J. Shimony, M. Shinawi, M. Brini, 2015, The Journal of Biological Chemistry.

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

E. Bertini, Massimiliano Valeriani, A. Capuano, 2015, The Journal of Headache and Pain.

The SNPs in the human genetic blueprint era.

V Romano Spica, F Valeriani, G. Chillemi, 2013, New biotechnology.

The SNPs in the human genetic blueprint era.

G. Chillemi, M. Simmaco, G. Zanni, 2013, New biotechnology.

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

E. Bertini, B. Bernardi, G. Colafati, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

G. Zanni, T. Nicoletti, S. Rossi, 2020, Neurological Sciences.

One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

E. Bertini, G. Vasco, M. Petrarca, 2019, Cerebellum & Ataxias.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

R. Carrozzo, T. Arzberger, C. La Morgia, 2024, American journal of human genetics.

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

E. Bertini, F. Santorelli, F. Zonta, 2018, Neurobiology of Disease.