• 999 Citations
  • 17 h-Index
19982019
If you made any changes in Pure these will be visible here soon.

Research Output 1998 2019

  • 999 Citations
  • 17 h-Index
  • 62 Article
  • 1 Letter
Filter
Article
1998

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

Neri, G., Gurrieri, F., Zanni, G. & Lin, A., Oct 2 1998, In : American Journal of Medical Genetics. 79, 4, p. 279-283 5 p.

Research output: Contribution to journalArticle

Glypicans
X-Linked Genes
Muscle Hypotonia
Wilms Tumor
Congenital Heart Defects
2000

X-linked congenital ataxia: A clinical and genetic study

Bertini, E., Des Portes, V., Zanni, G., Santorelli, F., Dionisi-Vici, C., Vicari, S., Fariello, G. & Chelly, J., May 1 2000, In : American Journal of Medical Genetics. 92, 1, p. 53-56 4 p.

Research output: Contribution to journalArticle

Ataxia
Cerebellar Ataxia
Neuromuscular Diseases
Pyramidal Tracts
Muscle Hypotonia
2002

Defects of blastogenesis

Opitz, J. M., Zanni, G., Reynolds, J. F. & Gilbert-Barness, E., Dec 2002, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 115, 4, p. 269-286 18 p.

Research output: Contribution to journalArticle

Lymphocyte Activation
Fetus
Morphogenesis
Pentalogy of Cantrell
Embryonic Structures
2005

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

Zanni, G., Saillour, Y., Nagara, M., Billuart, P., Castelnau, L., Moraine, C., Faivre, L., Bertini, E., Durr, A., Guichet, A., Rodriguez, D., Des Portes, V., Beldjord, C., Chelly, J. & Kleefstra, N. V., Nov 8 2005, In : Neurology. 65, 9, p. 1364-1369 6 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Mutation
Intellectual Disability
Denaturing Gradient Gel Electrophoresis
Nonsense Codon

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

Van Esch, H., Zanni, G., Holvoet, M., Borghgraef, M., Chelly, J., Fryns, J. P. & Devriendt, K., Apr 2005, In : European Journal of Medical Genetics. 48, 2, p. 145-152 8 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Microcephaly
Hypogonadism
Intellectual Disability
Chromosome Mapping
2007

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

Saillour, Y., Zanni, G., Des Portes, V., Heron, D., Guibaud, L., Iba-Zizen, M. T., Pedespan, J. L., Poirier, K., Castelnau, L., Julien, C., Franconnet, C., Bonthron, D., Porteous, M. E., Chelly, J. & Bienvenu, T., Nov 2007, In : Journal of Medical Genetics. 44, 11, p. 739-744 6 p.

Research output: Contribution to journalArticle

Adaptor Protein Complex 1
X-Linked Mental Retardation
Sigma Factor
Hydrocephalus
Basal Ganglia
2008

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

Zanni, G., Bertini, E., Bellcross, C., Nedelec, B., Froyen, G., Neuhäuser, G., Opitz, J. M. & Chelly, J., Mar 1 2008, In : American Journal of Medical Genetics, Part A. 146, 5, p. 593-600 8 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Ataxia
Intelligence
Neuroimaging
Genes
2010

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

Zanni, G., Van Esch, H., Bensalem, A., Saillour, Y., Poirier, K., Castelnau, L., Ropers, H. H., De Brouwer, A. P. M., Laumonnier, F., Fryns, J. P. & Chelly, J., May 2010, In : Neurogenetics. 11, 2, p. 251-255 5 p.

Research output: Contribution to journalArticle

Intellectual Disability
Synapses
Post-Synaptic Density
Mutation
Genes

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Exons
Fetus
2011
Dandy-Walker Syndrome
Down-Regulation
Gene Expression
Chromosome Deletion
Rhombencephalon

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

Pirozzi, F., Di Raimo, F. R., Zanni, G., Bertini, E., Billuart, P., Tartaglione, T., Tabolacci, E., Brancaccio, A., Neri, G. & Chiurazzi, P., Nov 2011, In : Human Mutation. 32, 11

Research output: Contribution to journalArticle

Intellectual Disability
GTPase-Activating Proteins
Amino Acids
Mutation
Proteins

X-linked disorders with cerebellar dysgenesis

Zanni, G. & Bertini, E. S., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 24.

Research output: Contribution to journalArticle

Cerebellar Diseases
X-Linked Genes
Ataxia
Muscle Hypotonia
X Chromosome
2012

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

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
Cerebellar Ataxia
Ataxia
Atrophy
Biopsy
Muscles
2013

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

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

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
Lissencephaly
Rhombencephalon
Phenotype
Mutation
Corpus Callosum

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

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

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
2014

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

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

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

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
Induced Pluripotent Stem Cells
Neurogenesis
Neuroglia
Technology
Neurobiology
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

2015

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

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
Nuclear Receptor Subfamily 4, Group A, Member 1
Myosin-Light-Chain Phosphatase
rho-Associated Kinases
Histone Deacetylases
Transcriptional Activation
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., 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

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

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

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

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
Induced Pluripotent Stem Cells
rho-Associated Kinases
Neurogenesis
Myosins
Neurons

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

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

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
2017
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides

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

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
Iris
Missense Mutation
Ataxia
Cerebellar Ataxia
Mutation

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