Publications by authors named "Marcello Scala"

33Publications

Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome.

Neurosurg Rev 2020 Sep 21. Epub 2020 Sep 21.

Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s10143-020-01393-1DOI Listing
September 2020

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth Defects Res 2020 Aug 27;112(14):1085-1092. Epub 2020 May 27.

UOC Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/bdr2.1711DOI Listing
August 2020

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

J Neurol Sci 2020 Jul 7;414:116826. Epub 2020 Apr 7.

Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306150PMC
July 2020

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Neurogenetics 2019 08 2;20(3):165-172. Epub 2019 Jul 2.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1007/s10048-019-00582-5DOI Listing
August 2019

mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

J Genet 2019 06;98(2)

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, UK.

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June 2019

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

J Genet 2019 06;98(2)

Laboratorio di Citogenetica, Istituto Giannina Gaslini, 16147 Genova, Italy.

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June 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2019.05.011DOI Listing
July 2019

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Pediatr Blood Cancer 2019 09 27;66(9):e27831. Epub 2019 May 27.

Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/pbc.27831DOI Listing
September 2019

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Am J Med Genet A 2018 03 5;176(3):663-667. Epub 2018 Jan 5.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38593DOI Listing
March 2018