• 990 Citations
  • 17 h-Index
19982019
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Research Output 1998 2019

  • 990 Citations
  • 17 h-Index
  • 62 Article
  • 1 Letter
  • 1 Review article
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Article
2019

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Aug 10 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Cerebellar Ataxia
Genetic Testing
Neurology
Differential Diagnosis
Nuclear Pore Complex Proteins
Ataxia
Nuclear Pore
Exome
Nuclear Envelope

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

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype
Cerebellar Ataxia
Spinocerebellar Degenerations
Spectrin
Ataxia
Spinocerebellar Ataxias
2018

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

Vicario, M., Zanni, G., Vallese, F., Santorelli, F., Grinzato, A., Cieri, D., Berto, P., Frizzarin, M., Lopreiato, R., Zonta, F., Ferro, S., Sandre, M., Marin, O., Ruzzene, M., Bertini, E., Zanotti, G., Brini, M., Calì, T. & Carafoli, E., Jul 2018, In : Neurobiology of Disease. 115, p. 157-166 10 p.

Research output: Contribution to journalArticle

Ataxia
Calmodulin
Cerebellar Ataxia
Protein Isoforms
Cadherins

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

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Kinesin
Microtubules
Spindle Apparatus
Tubulin
Cell Division

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

Nuovo, S., Fuiano, L., Micalizzi, A., Battini, R., Bertini, E., Borgatti, R., Caridi, G., D'Arrigo, S., Fazzi, E., Fischetto, R., Ghiggeri, G. M., Giordano, L., Leuzzi, V., Romaniello, R., Signorini, S., Stringini, G., Zanni, G., Romani, M., Valente, E. M. & Emma, F., Nov 6 2018, In : Nephrology Dialysis Transplantation.

Research output: Contribution to journalArticle

Chronic Renal Insufficiency
Disease Progression
Osmolar Concentration
Kidney
Urine

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

Nicita, F., Tasca, G., Nardella, M., Bellacchio, E., Camponeschi, I., Vasco, G., Schirinzi, T., Bertini, E. & Zanni, G., Aug 2018, In : Cerebellum. 17, 4, p. 499-503 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Ataxia
Mutation
Inwardly Rectifying Potassium Channel
Deafness

Serum uric acid in Friedreich Ataxia

Schirinzi, T., Vasco, G., Zanni, G., Petrillo, S., Piemonte, F., Castelli, E. & Bertini, E. S., Apr 2018, In : Clinical Biochemistry. 54, p. 139-141 3 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Uric Acid
Serum
Neurodegenerative Diseases
Neurodegenerative diseases
Hereditary Spastic Paraplegia
Genetic Association Studies
Pediatrics
Genes
Single Nucleotide Polymorphism
2017
3 Citations (Scopus)
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides
3 Citations (Scopus)

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

Vicario, M., Calì, T., Cieri, D., Vallese, F., Bortolotto, R., Lopreiato, R., Zonta, F., Nardella, M., Micalizzi, A., Lefeber, D. J., Valente, E. M., Bertini, E., Zanotti, G., Zanni, G., Brini, M. & Carafoli, E., Dec 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 12, p. 3303-3312 10 p.

Research output: Contribution to journalArticle

Heterozygote
Cerebellar Ataxia
Mutation
Pathology
Muscle Hypotonia
3 Citations (Scopus)

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations

Vicario, M., Calì, T., Cieri, D., Vallese, F., Bortolotto, R., Lopreiato, R., Zonta, F., Nardella, M., Micalizzi, A., Lefeber, D. J., Valente, E. M., Bertini, E., Zanotti, G., Zanni, G., Brini, M. & Carafoli, E., Dec 1 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 12, p. 3303-3312 10 p.

Research output: Contribution to journalArticle

Heterozygote
Cerebellar Ataxia
Mutation
Pathology
Muscle Hypotonia
9 Citations (Scopus)

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

Dentici, M. L., Barresi, S., Nardella, M., Bellacchio, E., Alfieri, P., Bruselles, A., Pantaleoni, F., Danieli, A., Iarossi, G., Cappa, M., Bertini, E., Tartaglia, M. & Zanni, G., Sep 10 2017, In : Gene. 628, p. 141-145 5 p.

Research output: Contribution to journalArticle

Iris
Missense Mutation
Ataxia
Cerebellar Ataxia
Mutation
9 Citations (Scopus)
Iris
Missense Mutation
Ataxia
Cerebellar Ataxia
Mutation
2016

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

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., Von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E. S., Boltshauser, E. & Valente, E. M., 2016, In : European Journal of Human Genetics. 24, 9, p. 1262-1267

Research output: Contribution to journalArticle

Cysts
Cerebellar Ataxia
Neuroimaging
Founder Effect
Fourth Ventricle

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

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., Von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E. S., Boltshauser, E. & Valente, E. M., Mar 2 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Cysts
Cerebellar Ataxia
Neuroimaging
Founder Effect
Fourth Ventricle
11 Citations (Scopus)

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

Micalizzi, A., Poretti, A., Romani, M., Ginevrino, M., Mazza, T., Aiello, C., Zanni, G., Baumgartner, B., Borgatti, R., Brockmann, K., Camacho, A., Cantalupo, G., Haeusler, M., Hikel, C., Klein, A., Mandrile, G., Mercuri, E., Rating, D., Romaniello, R., Santorelli, F. M. & 10 others, Schimmel, M., Spaccini, L., Teber, S., von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E., Boltshauser, E. & Valente, E. M., Mar 2 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Cysts
Cerebellar Ataxia
Neuroimaging
Founder Effect
Fourth Ventricle
10 Citations (Scopus)

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

Meziane, H., Khelfaoui, M., Morello, N., Hiba, B., Calcagno, E., Reibel-Foisset, S., Selloum, M., Chelly, J., Humeau, Y., Riet, F., Zanni, G., Herault, Y., Bienvenu, T., Giustetto, M. & Billuart, P., Jun 1 2016, In : Human Molecular Genetics. 25, 11, p. 2314-2323 10 p.

Research output: Contribution to journalArticle

Intellectual Disability
rho-Associated Kinases
Brain
Synaptic Transmission
Cerebral Ventricles
Missense Mutation
Ataxia
Migraine Disorders
Cerebellar Diseases
Mutation
17 Citations (Scopus)

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

Barresi, S., Niceta, M., Alfieri, P., Brankovich, V., Piccini, G., Bruselles, A., Barone, M. R., Cusmai, R., Tartaglia, M., Bertini, E. & Zanni, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Inositol 1,4,5-Trisphosphate Receptors
Ataxia
Mutation
Exome
Muscle Hypotonia
6 Citations (Scopus)
Induced Pluripotent Stem Cells
rho-Associated Kinases
Neurogenesis
Myosins
Neurons
12 Citations (Scopus)

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

Figueroa, K. P., Paul, S., Calì, T., Lopreiato, R., Karan, S., Frizzarin, M., Ames, D., Zanni, G., Brini, M., Dansithong, W., Milash, B., Scoles, D. R., Carafoli, E. & Pulst, S. M., May 1 2016, In : DMM Disease Models and Mechanisms. 9, 5, p. 553-562 10 p.

Research output: Contribution to journalArticle

Tremor
Ataxia
Rats
Mutation
Age of Onset
19 Citations (Scopus)

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

Sferra, A., Baillat, G., Rizza, T., Barresi, S., Flex, E., Tasca, G., D'Amico, A., Bellacchio, E., Ciolfi, A., Caputo, V., Cecchetti, S., Torella, A., Zanni, G., Diodato, D., Piermarini, E., Niceta, M., Coppola, A., Tedeschi, E., Martinelli, D., Dionisi-Vici, C. & 6 others, Nigro, V., Dallapiccola, B., Compagnucci, C., Tartaglia, M., Haase, G. & Bertini, E., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 974-983 10 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Brain Diseases
Tubulin
Microtubules
Fibroblasts

The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process

Calì, T., Frizzarin, M., Luoni, L., Zonta, F., Pantano, S., Cruz, C., Bonza, M. C., Bertipaglia, I., Ruzzene, M., De Michelis, M. I., Damiano, N., Marin, O., Zanni, G., Zanotti, G., Brini, M., Lopreiato, R. & Carafoli, E., Sep 12 2016, In : Biochimica et Biophysica Acta - General Subjects. 1863, 1, p. 165-173 9 p.

Research output: Contribution to journalArticle

Ataxia
Calmodulin
Cell membranes
Adenosine Triphosphatases
Protein Isoforms
10 Citations (Scopus)

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

Calì, T., Frizzarin, M., Luoni, L., Zonta, F., Pantano, S., Cruz, C., Bonza, M. C., Bertipaglia, I., Ruzzene, M., De Michelis, M. I., Damiano, N., Marin, O., Zanni, G., Zanotti, G., Brini, M., Lopreiato, R. & Carafoli, E., Sep 12 2016, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 1, p. 165-173 9 p.

Research output: Contribution to journalArticle

Calcium-Transporting ATPases
Ataxia
Calmodulin
Protein Isoforms
Cell Membrane
2015
23 Citations (Scopus)

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

Calì, T., Lopreiato, R., Shimony, J., Vineyard, M., Frizzarin, M., Zanni, G., Zanotti, G., Brini, M., Shinawi, M. & Carafoli, E., Jun 26 2015, In : Journal of Biological Chemistry. 290, 26, p. 16132-16141 10 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Laminin
Cell membranes
Protein Isoforms
Homeostasis
10 Citations (Scopus)

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

Zanni, G., Kalscheuer, V. M., Friedrich, A., Barresi, S., Alfieri, P., Di Capua, M., Haas, S. A., Piccini, G., Karl, T., Klauck, S. M., Bellacchio, E., Emma, F., Cappa, M., Bertini, E. & Breitenbach-Koller, L., Dec 1 2015, In : Human Mutation. 36, 12, p. 1155-1158 4 p.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
Ribosomal Proteins
Missense Mutation
Ribosomes
4 Citations (Scopus)
Nuclear Receptor Subfamily 4, Group A, Member 1
Myosin-Light-Chain Phosphatase
rho-Associated Kinases
Histone Deacetylases
Transcriptional Activation
2014
15 Citations (Scopus)

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

Masotti, A., Celluzzi, A., Petrini, S., Bertini, E., Zanni, G. & Compagnucci, C., 2014, In : Aging. 6, 12, p. 1094-1108 15 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Neurogenesis
Mitochondria
Rejuvenation
In Vitro Techniques
21 Citations (Scopus)

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

Zanni, G., Barresi, S., Cohen, R., Specchio, N., Basel-Vanagaite, L., Valente, E. M., Shuper, A., Vigevano, F. & Bertini, E., 2014, In : Epilepsy Research. 108, 4, p. 811-815 5 p.

Research output: Contribution to journalArticle

Sodium-Hydrogen Antiporter
Status Epilepticus
Sleep
Microcephaly
Mutation
24 Citations (Scopus)

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

Poretti, A., Häusler, M., Von Moers, A., Baumgartner, B., Zerres, K., Klein, A., Aiello, C., Moro, F., Zanni, G., Santorelli, F. M., Huisman, T. A. G. M., Weis, J., Valente, E. M., Bertini, E. & Boltshauser, E., 2014, In : Cerebellum. 13, 1, p. 79-88 10 p.

Research output: Contribution to journalArticle

Apraxias
Ataxia
Intellectual Disability
Cysts
Neuroimaging
12 Citations (Scopus)

Christianson syndrome: Spectrum of neuroimaging findings

Bosemani, T., Zanni, G., Hartman, A. L., Cohen, R., Huisman, T. A. G. M., Bertini, E. & Poretti, A., 2014, In : Neuropediatrics. 45, 4, p. 247-251 5 p.

Research output: Contribution to journalArticle

Neuroimaging
Angelman Syndrome
Cerebellar Cortex
Atrophy
Phenotype
1 Citation (Scopus)
26 Citations (Scopus)
Induced Pluripotent Stem Cells
Neurogenesis
Neuroglia
Technology
Neurobiology
7 Citations (Scopus)
RNA Editing
RNA Splicing
RNA editing
alternative splicing
Alternative Splicing

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

Zanni, G. & Opitz, J. M., 2014, In : American Journal of Medical Genetics, Part A. 164, 8, p. 2140 1 p.

Research output: Contribution to journalArticle

2013
5 Citations (Scopus)

Annals of morphology. Atavisms: Phylogenetic Lazarus?

Zanni, G. & Opitz, J. M., Nov 2013, In : American Journal of Medical Genetics, Part A. 161, 11, p. 2822-2835 14 p.

Research output: Contribution to journalArticle

Medical Genetics
Zoology
Botany
Fossils
Retirement
11 Citations (Scopus)

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

Quattrocchi, C. C., Zanni, G., Napolitano, A., Longo, D., Cordelli, D. M., Barresi, S., Randisi, F., Valente, E. M., Verdolotti, T., Genovese, E., Specchio, N., Vitiello, G., Spiegel, R., Bertini, E. & Bernardi, B., Feb 2013, In : Neurogenetics. 14, 1, p. 77-83 7 p.

Research output: Contribution to journalArticle

Diffusion Tensor Imaging
Magnetic Resonance Imaging
Phenotype
Mutation
Group II Malformations of Cortical Development
13 Citations (Scopus)

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

Ferraris, A., Bernardini, L., Sabolic Avramovska, V., Zanni, G., Loddo, S., Sukarova-Angelovska, E., Parisi, V., Capalbo, A., Tumini, S., Travaglini, L., Mancini, F., Duma, F., Barresi, S., Novelli, A., Mercuri, E., Tarani, L., Bertini, E., Dallapiccola, B. & Valente, E. M., 2013, In : Orphanet Journal of Rare Diseases. 8, 1, 75.

Research output: Contribution to journalArticle

Dandy-Walker Syndrome
Genetic Association Studies
Single Nucleotide Polymorphism
Genes
Phenotype
15 Citations (Scopus)
Lissencephaly
Rhombencephalon
Phenotype
Mutation
Corpus Callosum
20 Citations (Scopus)

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

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E. & Wei, W., 2013, In : Neurogenetics. 14, 3-4, p. 247-250 4 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Exome
Spinocerebellar Ataxias
Nerve Degeneration
Bangladesh
8 Citations (Scopus)

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

Grossi, A., Palma, A., Zanni, G., Novelli, A., Loddo, S., Cappa, M. & Fierabracci, A., Feb 25 2013, In : Gene. 515, 2, p. 439-443 5 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Turner Syndrome
Trisomy
Autoimmunity
Type 1 Diabetes Mellitus
12 Citations (Scopus)

The SNPs in the human genetic blueprint era

Giampaoli, S., Chillemi, G., Valeriani, F., Lazzaro, D., Borro, M., Gentile, G., Simmaco, M., Zanni, G., Berti, A. & Romano Spica, V., Jun 25 2013, In : New Biotechnology. 30, 5, p. 475-484 10 p.

Research output: Contribution to journalArticle

Blueprints
Medical Genetics
Bioinformatics
Nucleotides
Polymorphism
2012
72 Citations (Scopus)

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

Zanni, G., Calì, T., Kalscheuer, V. M., Ottolini, D., Barresi, S., Lebrun, N., Montecchi-Palazzi, L., Hu, H., Chelly, J., Bertini, E., Brini, M. & Carafoli, E., Sep 4 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 36, p. 14514-14519 6 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Calcium-Transporting ATPases
Protein Isoforms
Homeostasis
Cell Membrane
42 Citations (Scopus)

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

Burglen, L., Chantot-Bastaraud, S., Garel, C., Milh, M., Touraine, R., Zanni, G., Petit, F., Afenjar, A., Goizet, C., Barresi, S., Coussement, A., Ioos, C., Lazaro, L., Joriot, S., Desguerre, I., Lacombe, D., Des Portes, V., Bertini, E., Siffroi, J. P., Billette De Villemeur, T. & 1 others, Rodriguez, D., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 18.

Research output: Contribution to journalArticle

Phenotype
Mutation
Microcephaly
Intellectual Disability
Epilepsy
18 Citations (Scopus)
Cerebellar Ataxia
Ataxia
Atrophy
Biopsy
Muscles