Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy

Autor: Francesca Condino, Elvira Valeria De Marco, Donatella Civitelli, Ferdinanda Annesi, Maurizio Morelli, Aldo Quattrone, Francesca E. Rocca, Giovanni Provenzano, Demetrio Messina, Grazia Annesi, Fabiana Novellino, Giuseppe Nicoletti, Sara Carrideo, Innocenza Claudia Cirò Candiano, Patrizia Tarantino

Publikováno v: Movement disorders 23 (2008): 460–463. doi:10.1002/mds.21892
info:cnr-pdr/source/autori:De Marco EV, Annesi G, Tarantino P, Rocca FE, Provenzano G, Civitelli D, Cirò Candiano IC, Annesi F, Carrideo S, Condino F, Nicoletti G, Messina D, Novellino F, Morelli M, Quattrone A./titolo:Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy./doi:10.1002%2Fmds.21892/rivista:Movement disorders/anno:2008/pagina_da:460/pagina_a:463/intervallo_pagine:460–463/volume:23

Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af08f4f2caa6609a68b38d925dbe3477
https://doi.org/10.1002/mds.21892

Gene dosage influences the age at onset of SCA2 in a family from southern Italy

Autor: Ferdinanda Annesi, Patrizia Tarantino, EV De Marco, Maria Liguori, Donatella Civitelli, Sara Carrideo, Nunzio Cutuli, Grazia Annesi, S Giuffrida, I.C. Cirò Candiano, Aldo Quattrone, Patrizia Spadafora

Publikováno v: Clinical genetics 72 (2007): 381–383.
info:cnr-pdr/source/autori:Spadafora P, Annesi G, Liguori M, Tarantino P, Cutuli N, Carrideo S, Ciro Candiano IC, De Marco EV, Civitelli D, Annesi F, Giuffrida S, Quattrone A/titolo:Gene dosage influences the age at onset of SCA2 in a family from southern Italy/doi:/rivista:Clinical genetics/anno:2007/pagina_da:381/pagina_a:383/intervallo_pagine:381–383/volume:72

Spinocerebellar ataxia type 2 (SCA2) is the most common form of autosomal dominant cerebellar ataxia in southern Italy (1). The expansion of a CAG trinucleotide repeat in exon 1 of the SCA2 gene, located on chromosome 12q23-24.1, is responsible for t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e399e87659968b0146424c330d9f2152
https://doi.org/10.1111/j.1399-0004.2007.00868.x

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy

Autor: Sara Carrideo, Ferdinanda Annesi, Donatella Civitelli, Aldo Quattrone, Elvira Valeria De Marco, Paola Forabosco, Innocenza Claudia Cirò Candiano, Grazia Annesi, Antonio Gambardella, Patrizia Tarantino, Angelo Labate

Publikováno v: Epilepsy research 74 (2007): 70–73.
info:cnr-pdr/source/autori:De Marco EV; Gambardella A; Annesi F; Labate A; Carrideo S; Forabosco P; Civitelli D; Candiano IC; Tarantino P; Annesi G; Quattrone A/titolo:Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy./doi:/rivista:Epilepsy research/anno:2007/pagina_da:70/pagina_a:73/intervallo_pagine:70–73/volume:74

Purpose Mutations in the genes encoding the alfa 2 , alfa 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor (nAChR) play a causative role in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Moreover, variations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de0e19d46d24b53b00161bd96e1c08a
https://publications.cnr.it/doc/50046

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

Autor: Enzo Wanke, Raffaella Rusconi, Rosanna Chifari, Raffaele Canger, Angelo Labate, Aldo Quattrone, Grazia Annesi, Antonio Gambardella, Emanuele Schiavon, Rita Restano Cassulini, Silvana Franceschetti, Sara Carrideo, Ferdinanda Annesi, Maria Paola Canevini, Massimo Mantegazza

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America 102 (2005): 18177–18182.
info:cnr-pdr/source/autori:Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A./titolo:Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures./doi:/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2005/pagina_da:18177/pagina_a:18182/intervallo_pagine:18177–18182/volume:102

Febrile seizures (FS) affect 5–12% of infants and children up to 6 years of age. There is now epidemiological evidence that FS are associated with subsequent afebrile and unprovoked seizures in ≈7% of patients, which is 10 times more than in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d74e0e4a01a564bfbd03892dafc520
http://hdl.handle.net/10281/29091

Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study

Autor: Antonio Gambardella, Donatella Civitelli, Patrizia Tarantino, Mario Zappia, Elvira Valeria De Marco, Pierfrancesco Pugliese, Patrizia Spadafora, Aldo Quattrone, Sara Carrideo, Giuseppe Nicoletti, Ferdinanda Annesi, Grazia Annesi, Innocenza C. Cirò-Candiano, Gennarina Arabia, Demetrio Messina

Publikováno v: Archives of neurology (Chic.) 62 (2005): 601–605. doi:10.1001/archneur.62.4.601
info:cnr-pdr/source/autori:Zappia M; Annesi G; Nicoletti G; Arabia G, Annesi F; Messina D; Pugliese P; Spadafora P; Tarantino P; Carrideo S; Civitelli D; De Marco EV; Ciro-Candiano IC; Gambardella A; Quattrone A./titolo:Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study./doi:10.1001%2Farchneur.62.4.601/rivista:Archives of neurology (Chic.)/anno:2005/pagina_da:601/pagina_a:605/intervallo_pagine:601–605/volume:62

Background Several factors, both clinical and genetic, may account for the risk of developing levodopa-induced peak-dose dyskinesias (PDD) in patients with Parkinson disease, but it is unclear how these factors interact for modulating the individual

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d4b7abc85473b90bbe4cb08fdb991e
https://pubmed.ncbi.nlm.nih.gov/15824260