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Annalaura Torella
Annalaura Torella
Università degli studi della Campania “Luigi Vanvitelli”
Email verificata su unicampania.it
Titolo
Citata da
Citata da
Anno
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ...
European Journal of Human Genetics 28 (11), 1602-1614, 2020
2862020
Adult cardiac stem cells are multipotent and robustly myogenic: c-kit expression is necessary but not sufficient for their identification
C Vicinanza, I Aquila, M Scalise, F Cristiano, F Marino, E Cianflone, ...
Cell Death & Differentiation 24 (12), 2101-2116, 2017
1552017
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
1172016
Interpreting genetic variants in titin in patients with muscle disorders
M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ...
JAMA neurology 75 (5), 557-565, 2018
982018
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European Journal of Human Genetics 29 (9), 1325-1331, 2021
912021
Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism
L Perillo, A Monsurrò, E Bonci, A Torella, M Mutarelli, V Nigro
Journal of dental research 94 (4), 569-576, 2015
852015
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
M Savarese, G Di Fruscio, M Mutarelli, A Torella, F Magri, FM Santorelli, ...
Acta neuropathologica communications 2, 1-13, 2014
852014
Kitcre knock-in mice fail to fate-map cardiac stem cells
C Vicinanza, I Aquila, E Cianflone, M Scalise, F Marino, T Mancuso, ...
Nature 555 (7697), E1-E5, 2018
842018
The genetic landscape of dystrophin mutations in Italy: a nationwide study
M Neri, R Rossi, C Trabanelli, A Mauro, R Selvatici, MS Falzarano, ...
Frontiers in genetics 11, 131, 2020
832020
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ...
PloS one 8 (5), e63536, 2013
832013
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene
A Taglia, R Petillo, P D'AMBROSIO, E Picillo, A Torella, C Orsini, M Ergoli, ...
Acta Myologica 34 (1), 9, 2015
722015
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
G Piluso, M Dionisi, F Del Vecchio Blanco, A Torella, S Aurino, ...
Clinical chemistry 57 (11), 1584-1596, 2011
662011
TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy
A Sferra, G Baillat, T Rizza, S Barresi, E Flex, G Tasca, A D’amico, ...
The American Journal of Human Genetics 99 (4), 974-983, 2016
602016
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies
M La Verde, L De Falco, A Torella, G Savarese, P Savarese, R Ruggiero, ...
BMC medical genomics 14, 1-11, 2021
572021
Genotype–phenotype correlations in recessive titinopathies
M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ...
Genetics in Medicine 22 (12), 2029-2040, 2020
562020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
A Torella, M Zanobio, R Zeuli, F del Vecchio Blanco, M Savarese, ...
PLoS One 15 (8), e0237803, 2020
532020
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ...
European Journal of Human Genetics 27 (8), 1254-1259, 2019
532019
Clinical and genetic findings in children with neurofibromatosis type 1, Legius syndrome, and other related neurocutaneous disorders
T Giugliano, C Santoro, A Torella, F Del Vecchio Blanco, A Grandone, ...
Genes 10 (8), 580, 2019
522019
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct …
G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ...
Genetics in Medicine 22 (11), 1838-1850, 2020
492020
Streptozotocin-induced type 1 and 2 diabetes mellitus mouse models show different functional, cellular and molecular patterns of diabetic cardiomyopathy
F Marino, N Salerno, M Scalise, L Salerno, A Torella, C Molinaro, ...
International journal of molecular sciences 24 (2), 1132, 2023
452023
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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