Annalaura Torella
Annalaura Torella
UniversitÓ degli studi della Campania “Luigi Vanvitelli”
Verified email at
Cited by
Cited by
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
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
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
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
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
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
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
Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism
L Perillo, A Monsurr˛, E Bonci, A Torella, M Mutarelli, V Nigro
Journal of dental research 94 (4), 569-576, 2015
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R SchŘle, M Synofzik, A T÷pf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
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
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
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
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
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
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinctá…
G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ...
Genetics in Medicine 22 (11), 1838-1850, 2020
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
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
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
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
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review
E Agolini, ML Dentici, E Bellacchio, V Alesi, FC Radio, A Torella, ...
Clinical Genetics 93 (3), 675-681, 2018
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