Loredana F. Boccone

Cagliari, Italy

Last Updated: 09/26/2026

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Found 17 publications

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 31, 2019

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Journal: Italian journal of pediatrics

Published: February 01, 2019

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.

Journal: Parkinsonism & related disorders

Published: November 14, 2018

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

Journal: Annals of neurology

Published: April 21, 2017

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Journal: Parkinsonism & related disorders

Published: January 25, 2016

Respiratory sleep disorders in Jeune syndrome: a case description.

Respiratory sleep disorders in Jeune syndrome: a case description.

Journal: Archives italiennes de biologie

Published: January 09, 2016

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 12, 2015

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

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

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 10, 2015

ELOVL5 mutations cause spinocerebellar ataxia 38.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Journal: American journal of human genetics

Published: March 12, 2014

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Journal: Human mutation

Published: December 23, 2013

Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.

Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.

Journal: European journal of medical genetics

Published: August 03, 2012

A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.

A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.

Journal: Gene

Published: April 23, 2012

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Last Updated: 09/26/2026