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Research Output 1998 2019

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Article

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

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

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
Hereditary Spastic Paraplegia
Genetic Association Studies
Pediatrics
Genes
Single Nucleotide Polymorphism

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
Cerebellar Ataxia
Ataxia
Atrophy
Biopsy
Muscles

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

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

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

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