Výsledky vyhledávání - "Elena, Rizzo"

Missing the pathological expansion in Huntington disease: de novo c. 51C >G variant on the expanded allele causing intrafamilial allele dropout

Autor: Alessia Mongelli, Elena Rizzo, Cinzia Gellera, Caterina Mariotti, Stefania Magri, Lorenzo Nanetti, Franco Taroni

Publikováno v: American Journal of Medical Genetics Part A. 185:397-400

Huntington disease (HD) is an autosomal dominant disease characterized by motor, behavioral, and cognitive symptoms, caused by the pathological expansion of more than 35 CAG/CAA repeats in the HTT gene. We describe the phenotype of a patient compatib

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f08257851cd270666b121c23477f02
https://doi.org/10.1002/ajmg.a.61973

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Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population

Autor: Franco Taroni, Caterina Mariotti, Anna De Rosa, Alessia Mongelli, Tommasina Fico, Cinzia Gellera, Elena Rizzo, Lorenzo Nanetti, Elena Salvatore, Marta Gatti, Stefania Magri

Publikováno v: Neurological Sciences. 41:1475-1482

Huntington disease (HD) and spinocerebellar ataxia type 1-2-17 (SCA1-2-17) are adult-onset autosomal dominant diseases, caused by triplet repeat expansions in the HTT, ATXN1, ATXN2, and TBP genes. Alleles with a repeat number just below the pathologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940269f0ddeea0268bc2c2c07f8af056
https://doi.org/10.1007/s10072-019-04233-3

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Advanced Robotic Surgery of the Parapharyngeal Space: Transoral Robotic Styloidectomy in Eagle Syndrome

Autor: Joan Miralles, Julio Rama-López, Enrik Enchev, Miguel García-Wagner, Ana Araujo-Da Costa, Carlos Rubi-Oña, Elena Rizzo-Riera

Publikováno v: Journal of Craniofacial Surgery. 31:2339-2341

Eagle syndrome (ES) is characterized by symptomatic elongation of the styloid process or ossification of the stylohyoid ligament causing irritation and inflammation of the trigeminal, facial, glossopharyngeal, and vagus nerves. The use of robotic sur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55209681a9215627c70fbb8b9db72ae2
https://doi.org/10.1097/scs.0000000000006804

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Autor: Franco Taroni, Caterina Mariotti, Pietro Cortelli, Daniela Di Bella, Stefania Magri, Cinzia Gellera, Roberto Fancellu, Elisa Sarto, Benedetta Ricci, Alessia Mongelli, Lorenzo Nanetti, Luisa Sambati, Alfredo Brusco, Maria Grazia Bruzzone, Elena Rizzo

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(1)

Purpose: This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. Alleles with >49 CAG/CAA repeats are fully

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb8af79f4ac3abfdbb3f125e9641691
https://pubmed.ncbi.nlm.nih.gov/34906452

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance

Autor: Franco Taroni, Elisa Sarto, Luisa Sambati, Caterina Mariotti, Daniela Di Bella, Pietro Cortelli, Cinzia Gellera, Maria Grazia Bruzzone, Elena Rizzo, Lorenzo Nanetti, Benedetta Ricci, Alfredo Brusco, Roberto Fancellu, Stefania Magri, Alessia Mongelli

Publikováno v: SSRN Electronic Journal.

Purpose: To unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17, caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. Alleles with >49 CAG/CAA are fully penetrant. Most patients, howeve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5ffadfbcc6996b183974d93834df8131
https://doi.org/10.2139/ssrn.3936158

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Eficacia de las maniobras de reposicionamiento canalicular en el vértigo posicional paroxístico benigno: revisión de 176 casos tratados en un centro hospitalario de tercer nivel

Autor: Manuel Tomás-Barberán, Claudio Carnevale, Elena Rizzo-Riera, Julio Rama-López, Santiago Quer-Canut, German Fermin-Gamero, P Sarría-Echegaray, Diego Arancibia-Tagle, G Til-Pérez

Publikováno v: Acta Otorrinolaringológica Española. 69:201-207

Resumen Introduccion y objetivos El vertigo posicional paroxistico benigno es la entidad mas frecuente dentro de los vertigos de origen periferico. El objetivo del siguiente trabajo es revisar los resultados obtenidos con las diferentes maniobras de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f7f489c1eb46a06f656305863ecf4661
https://doi.org/10.1016/j.otorri.2017.06.001

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Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients

Autor: Alessia Mongelli, Nicoletta Meucci, Gianni Pezzoli, Elena Rizzo, Caterina Mariotti, Lidia Sarro, Franco Taroni, Stefano Goldwurm, Lorenzo Nanetti, Cinzia Gellera

Publikováno v: Neuroscience Letters. 678:37-42

Multiple system atrophy (MSA) is an adult onset, progressive, neurodegenerative disorder of unknown etiology characterized by autonomic dysfunction, parkinsonism (MSA-P) and cerebellar ataxia (MSA-C). The phenotypic spectrum may present overlapping f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b41570389c37bbc313551f92c9efdc
https://doi.org/10.1016/j.neulet.2018.04.044

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Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease

Autor: Caterina Mariotti, Valeria Elisa Contarino, Marina Grisoli, Anne-Catherine Bachoud-Lévi, Maria Grazia Bruzzone, Elena Rizzo, Lidia Sarro, Franco Taroni, Maria Giavazzi, Serena Frittoli, Anna Castaldo, Cinzia Gellera, Lorenzo Nanetti, Andrea Ciammola

Publikováno v: Parkinsonism & Related Disorders. 51:17-23

Huntington disease (HD) is an inherited neurodegenerative disorder most commonly manifesting in adulthood. Identification of biomarkers tracking neurodegeneration before the onset of motor symptoms is important for future interventional studies. Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3316055e6d0e9db651a3b1a2b0b4dd7e
https://doi.org/10.1016/j.parkreldis.2018.02.033

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G08 An italian study to estimate the frequency of the intermediate triplet length in the huntingtin gene: 1/20 subject carries an allele with 27–35 cag

Autor: Alessia Mongelli, Anna Castaldo, Caterina Mariotti, Cinzia Gellera, Elena Rizzo, Elena Salvatore, Lorenzo Nanetti, Franco Taroni

Publikováno v: Genetic testing and counselling.

Background Huntington disease (HD) is an autosomal dominant disorder caused by CAG repeat expansions in the huntingtin gene (≥40). Alleles with repeat number slightly below the pathological threshold are defined as intermediate (IAs), and are assoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::628c0785e5ba15cbec0e7eec826adb3f
https://doi.org/10.1136/jnnp-2018-ehdn.181

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