Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Elisabetta Solla"'
Autor:
Robert A. Hegele, Nicola Carboni, Elisabetta Fadda, Elisabetta Solla, Adam D. McIntyre, Rachele Piras, Francesco Brancati, Giovanna Lattanzi, Maria Rosaria D'Apice, Marco Mura, Maria Antonietta Maioli, Giovanni Marrosu, Eleonora Cocco, Maria Giovanna Marrosu, Giuseppe Novelli, Anna Mateddu
Publikováno v:
Muscle & Nerve. 49:928-930
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2e9fbe133ad6d831a58932abb1a183f
https://doi.org/10.1002/mus.24157
https://doi.org/10.1002/mus.24157
Autor:
Eleonora Cocco, Nicola Carboni, Matteo Floris, M. Valentini, Marco Mura, Giovanni Marrosu, Anna Mateddu, Maria Antonietta Maioli, Elisabetta Solla, Maria Giovanna Marrosu
Publikováno v:
SRX Biology. 2010:1-7
Laminopathies are a heterogeneous group of LMNA gene alteration-related disorders including muscular dystrophies, peripheral neuropathies, progeria, lipodystrophies, mandibuloacral dysplasia and restrictive dermopathy. We recently identified a family
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f7474f7de5ecbd182d3834b40b2b5df
https://doi.org/10.3814/2010/301679
https://doi.org/10.3814/2010/301679
Autor:
Nicola, Carboni, Luisa, Politano, Matteo, Floris, Anna, Mateddu, Elisabetta, Solla, Stefania, Olla, Lorenzo, Maggi, Maria, Antonietta Maioli, Rachele, Piras, Eleonora, Cocco, Giovanni, Marrosu, Maria, Giovanna Marrosu
Publikováno v:
Acta Myologica
Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8b0af35658142b027cf95504e965edf
https://pubmed.ncbi.nlm.nih.gov/23853504
https://pubmed.ncbi.nlm.nih.gov/23853504
Autor:
Eleonora Cocco, Maria Giovanna Marrosu, Giovanni Marrosu, Claudia Sardu, Franco Isola, Elisabetta Solla, Nicola Carboni, Maria Antonietta Maioli, Rachele Piras, Anna Mateddu, Giancarlo Coghe, Lai C, Vincenzo Nissardi, Valentina Oppo, Rosa C. Manzi
Publikováno v:
Musclenerve. 46(2)
Introduction: LMNA gene mutations are associated with cardiac and skeletal muscle alterations. Methods: A cohort of 21 mutated individuals was assessed with clinical and instrumental investigations over the years. Results: The median observation peri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b33c81cd94a036d2d362d2a088db1d75
https://pubmed.ncbi.nlm.nih.gov/22806367
https://pubmed.ncbi.nlm.nih.gov/22806367
Autor:
Nicola Carboni, Rachele Piras, Elisabetta Solla, Anna Mateddu, Maurizio Porcu, Giovanni Marrosu, Eleonora Cocco, Valentina Oppo, Maria Antonietta Maioli, Maria Giovanna Marrosu
Publikováno v:
Musclenerve. 44(5)
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy. To our knowledge, cardiac impairment has never bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b16b13fffe43e2bfc55e4e94e73c172
https://pubmed.ncbi.nlm.nih.gov/22006699
https://pubmed.ncbi.nlm.nih.gov/22006699
Autor:
Eleonora Cocco, Rinaldo Aste, Stefano Marini, Matteo Floris, Maria Giovanna Marrosu, Maria Antonietta Maioli, Anna Mateddu, Nicola Carboni, Maurizio Porcu, Elisabetta Solla, Marco Mura, Giovanni Marrosu, Rachele Piras
Publikováno v:
Musclenerve. 43(5)
Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. Methods: A family affected by cardiac abnormalities, either isolated or v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2082497fc3eeb0bbd8132cbc5cf9e7bf
https://pubmed.ncbi.nlm.nih.gov/21462202
https://pubmed.ncbi.nlm.nih.gov/21462202
Autor:
Maria Antonietta Maioli, Stefano Marini, Eleonora Cocco, Anna Mateddu, Elisabetta Solla, Marco Mura, Giovanni Marrosu, Rachele Piras, Maria Giovanna Marrosu, Maurizio Porcu, Giuseppe Mercuro, Giorgio Mallarini, Nicola Carboni
Publikováno v:
Musclenerve. 41(4)
Laminopathies are a heterogeneous group of LMNA-gene-mutation-related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging. Leg muscle imaging investigations were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e638592f9b13edf6faf7bd87423449b7
https://pubmed.ncbi.nlm.nih.gov/19882644
https://pubmed.ncbi.nlm.nih.gov/19882644
Autor:
Pierpaolo Orrù, Maurizio Porcu, Stefania Tranquilli, Elisabetta Solla, Marco Mura, Maria Antonietta Maioli, Giovanni Marrosu, Eleonora Cocco, Nicola Carboni, Maria Giovanna Marrosu
Publikováno v:
Musclenerve. 41(1)
The aim of this study is to report the evolution of a phenotype in members of a single family carrying the heterozygous exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation. All mutated family members underwent neurological and cardiological assessments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3931cb1efc724c07c975515e9610cc66
https://pubmed.ncbi.nlm.nih.gov/19768759
https://pubmed.ncbi.nlm.nih.gov/19768759
Autor:
Gavino Pala, Mario Maioli, Margherita Chessa, Stanislao Lostia, Elisabetta Fadda, Gianna Costa, Maria Antonietta Secci, Elisabetta Solla, Valeria Orrù, Cristina Mancosu, Adolfo Pacifico, Rossella Ricciardi, Paola Frongia, Federico Santoni, Maria Antonietta Zedda, Annalisa Nucaro, Lucia Schirru, Stefania Tranquilli, Raffaele Murru, Stefania Cuccu, Daniela Murru, Loredana Moi, Novella Landis, Maria Cristina Melis, Elisabetta Deidda, Daniela Corongiu, Magdalena Zoledziewska, Patrizia Zavattari, Marcella Rolesu, Marcella Devoto, Michael B. Whalen, Anna Franca Milia, M Lai, Maristella Pitzalis, Rosanna Lampis, Anna Maria Marinaro, Costantino Motzo, Maria Giovanna Marrosu, Daniela Contu, Francesco Cucca
Publikováno v:
BMC Med Genet, vol. 9, pp. 3
BMC Medical Genetics
BMC Medical Genetics, Vol 9, Iss 1, p 3 (2008)
BMC Medical Genetics
BMC Medical Genetics, Vol 9, Iss 1, p 3 (2008)
Background The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50a47628e7b89a39191854434f95b34
https://serval.unil.ch/resource/serval:BIB_B731D83E9943.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_B731D83E9943.P001/REF.pdf
Autor:
Elisabetta Solla, Maria Giovanna Marrosu, Giorgio Mallarini, Stefano Marini, Maria Antonietta Maioli, Mohammad Ahmad, Eleonora Cocco, Anna Mateddu, Vincenzo Nissardi, Marco Mura, Jessica Frau, Nicola Carboni, Giuseppe Mercuro, Giovanni Marrosu
Publikováno v:
Neuromuscular disorders : NMD. 18(4)
The case of a family in which several members displayed conduction defects inherited as a dominant trait is reported. The proband was a young woman with a 1st degree atrio-ventricular block and high serum creatine kinase. Several members of the famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7dd71214b86830aa436747cc97f6efc
https://pubmed.ncbi.nlm.nih.gov/18337098
https://pubmed.ncbi.nlm.nih.gov/18337098