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Spinocerebellar Ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Autor: Enrico Grosso, Anna Gabellini, Alessandro Brussino, Caterina Tonon, Alfredo Brusco, E. Dragone, Maria Cristina Bellati, Raffaele Lodi, Sara Miccoli, Marina Ferrone, Dario Giobbe, Nicola Migone, Claudio Graziano, Laura Orsi, Carlo Arduino, Rita Rinaldi

SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4953e21af1ca58279d9580c4fcb705
http://hdl.handle.net/11585/100104

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Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

Autor: Alexandra Durr, Claudia Cagnoli, Alexis Brice, Alessandro Brussino, Michelle Viemont, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Cinzia Gellera, E. Dragone, Patrizia Pappi, Alfredo Brusco, Nicola Migone

Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful applica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c4c014750aa6405e96d52976a57ebb
http://hdl.handle.net/2318/43202

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Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions

Autor: Paolo Mortara, E. Dragone, Enrico Grosso, Claudia Cagnoli, Roberto Mutani, Nicola Migone, Alfredo Brusco, Laura Orsi, Antonella Nardacchione, A. Franco

Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders, six of which are caused by expansion of a polyglutamine-coding CAG repeats ( SCA1- 3, 6, 7 and 17). In addition, expansions of a CAG triplet in the 5' region of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19c462d6d02fce595438e7b94c95dca4
http://hdl.handle.net/2318/36578

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Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

Autor: Alessandro Brussino, E. Di Gregorio, Paola Caroppo, S. Stola, E. Dragone, Marina Ferrone, Laura Orsi, Sergio Padovan, Nicola Migone, Alfredo Brusco, Claudia Cagnoli

Publikováno v: Journal of Neurology. 255:1079-1080

JO N 2772 accompanied by dysphagia, and variable weakness of neck and limb muscles [6]. A novel neurodegenerative disorder, named MItochondrial autosomal Recessive Ataxia Syndrome (MIRAS) associated with the W748S mutation in homozygosis or compound

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2b4aadde17638d0cd4aa08d8b9a99c
https://doi.org/10.1007/s00415-008-0772-3

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Cystic hygroma: prenatal diagnosis and genetic counselling

Autor: E. Dragone, M. De Marchi, G. Pagliano, Angelo O. Carbonara, M. Campogrande, C. Marchese, Elisa Savin, G. C. Dolfin, F. Carozzi, Elsa Viora

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f14616cc87df4c3f2f112be6247fc1
http://hdl.handle.net/2318/30122

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