Annalaura Torella

Annalaura Torella

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Annalaura Torella

Annalaura Torella

Publications by authors named "Annalaura Torella"

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49Publications

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Expansion of the phenotype of lateral meningocele syndrome.

Am J Med Genet A 2020 Mar 6. Epub 2020 Mar 6.

Department of Translational Medicine, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61536DOI Listing
March 2020

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Int J Mol Sci 2019 Dec 20;21(1). Epub 2019 Dec 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.3390/ijms21010086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982348PMC
December 2019

A new family with transportinopathy: increased clinical heterogeneity.

Ther Adv Neurol Disord 2019 9;12:1756286419850433. Epub 2019 Jun 9.

TIGEM (Telethon Institute of Genetics and Medicine), University at Campania, Naples, Italy.

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http://dx.doi.org/10.1177/1756286419850433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558532PMC
June 2019

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

Acta Myol 2019 Jun 1;38(2):33-36. Epub 2019 Jun 1.

Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598412PMC
June 2019

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Acta Paediatr 2019 03 27;108(3):564-565. Epub 2018 Nov 27.

Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.

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http://doi.wiley.com/10.1111/apa.14633
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http://dx.doi.org/10.1111/apa.14633DOI Listing
March 2019

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Eur J Paediatr Neurol 2018 May 18;22(3):541-543. Epub 2017 Dec 18.

Laboratory of Neurogenetics and Neuroscience, Institute G.Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.12.005DOI Listing
May 2018

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Am J Med Genet A 2018 Mar 28;176(3):722-726. Epub 2017 Dec 28.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38589DOI Listing
March 2018

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Am J Med Genet A 2017 Oct 2;173(10):2743-2746. Epub 2017 Aug 2.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38367DOI Listing
October 2017

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Ann Neurol 2017 10;82(4):650-651

Department  of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ana.25058DOI Listing
October 2017

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Eur J Hum Genet 2017 05 8;25(5):651-655. Epub 2017 Mar 8.

Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2017.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392360PMC
May 2017

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscul Disord 2016 Apr-May;26(4-5):292-9. Epub 2016 Feb 17.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862961PMC
January 2017

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

GYG1 gene mutations in a family with polyglucosan body myopathy.

Neurol Genet 2015 Oct 24;1(3):e21. Epub 2015 Sep 24.

Department of Neurosciences (M.F.), University of Padova; Department of Biochemistry, Biophysics and General Pathology (A.T., M.S., V.N.), Second University of Naples; Telethon Institute of Genetics and Medicine (A.T., M.S., V.N.), Naples; and Fondazione San Camillo Hospital IRCCS (C.A.), Venice, Italy.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809457PMC
October 2015

Incomplete penetrance in limb-girdle muscular dystrophy type 1F.

Muscle Nerve 2015 Aug 7;52(2):305-6. Epub 2015 Jun 7.

Department of Neurosciences, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/mus.24539DOI Listing
August 2015

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immun Ageing 2014 26;11(1):19. Epub 2014 Nov 26.

IRCCS Multimedica, Milan, Italy ; Dipartimento di Medicina e Chirurgia, Università degli Studi di Salerno, Via Giovanni Paolo II, 132, 84084 Fisciano Salerno, Italy.

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http://dx.doi.org/10.1186/s12979-014-0019-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251685PMC
December 2014

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathol Commun 2014 Sep 11;2:100. Epub 2014 Sep 11.

Laboratorio di Genetica Medica, Dipartimento di Biochimica, Biofisica e Patologia generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

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http://dx.doi.org/10.1186/s40478-014-0100-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172906PMC
September 2014

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Clin Chem 2008 Jun 10;54(6):973-81. Epub 2008 Apr 10.

Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Naples.

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http://dx.doi.org/10.1373/clinchem.2007.097881DOI Listing
June 2008