Publications by authors named "Sabina Barresi"

39Publications

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Clin Genet 2019 12 4;96(6):585-589. Epub 2019 Sep 4.

Dipartimento Pediatrie Specialistiche, U. O. Reumatologia, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13632DOI Listing
December 2019

POGZ-related epilepsy: Case report and review of the literature.

Am J Med Genet A 2019 08 28;179(8):1631-1636. Epub 2019 May 28.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61206
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http://dx.doi.org/10.1002/ajmg.a.61206DOI Listing
August 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 04 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
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http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

Acta Derm Venereol 2019 02;99(2):238-239

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital-IRCCS, Piazza S. Onofrio 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3046DOI Listing
February 2019

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
September 2017

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Am J Med Genet A 2017 Jul 7;173(7):1965-1969. Epub 2017 May 7.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38255DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Eur J Paediatr Neurol 2017 May 30;21(3):450-456. Epub 2016 Nov 30.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.005DOI Listing
May 2017

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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http://dx.doi.org/10.5966/sctm.2015-0303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922854PMC
July 2016

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Eur J Paediatr Neurol 2016 Mar 28;20(2):323-330. Epub 2015 Nov 28.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.006DOI Listing
March 2016

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Biochem Biophys Res Commun 2015 Apr 12;459(2):179-183. Epub 2014 Dec 12.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.12.033DOI Listing
April 2015

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014 May 19;108(4):811-5. Epub 2014 Feb 19.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.02.009DOI Listing
May 2014

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Neurogenetics 2013 Nov 24;14(3-4):247-50. Epub 2013 Aug 24.

Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-013-0371-zDOI Listing
November 2013

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Eur J Paediatr Neurol 2013 Jul 11;17(4):361-5. Epub 2013 Jan 11.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 400165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.12.006DOI Listing
July 2013

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Proc Natl Acad Sci U S A 2012 Sep 21;109(36):14514-9. Epub 2012 Aug 21.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1207488109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437887PMC
September 2012